Cutaneous adnexal tumor with an unusual presentation--discussion of a potential
diagnostic pitfall. Am J Dermatopathol. 2009 May;31(3):278-81.
The clinical presentation of skin adnexal tumors is nonspecific, and
histologically; the differential diagnosis between primary cutaneous adnexal
malignant carcinomas and metastatic tumors with a visceral origin can be
challenging. We report a patient with history of invasive ductal carcinoma of the
breast who presented with a 1-cm erythematous palpable lesion on her right calf.
The biopsy showed an intradermal proliferation of malignant epithelioid cells
with ductal differentiation, histologically compatible with metastatic breast
carcinoma. However, the tumor cells labeled strongly and diffusely not only for
pancytokeratin and cytokeratin (CK7) but also with p63 and CK5/6;
carcinoembryonic antigen highlighted the ductal structures. No labeling was seen
for mammoglobin, estrogen/progesterone, Her2-neu, S-100 protein, CK20, thyroid
transcription factor-1 (TTF-1), and CDX-2. Based on the p63 and CK5/6 positivity,
the differential diagnosis also included the possibility of a primary adnexal
neoplasm and a complete excision was advised. The reexcision specimen revealed
residual infiltrating dermal tumor and an overlying intraepithelial component
with marked cytologic atypia and focal duct formation, diagnostic of a primary
cutaneous adnexal tumor with ductal differentiation (porocarcinoma).
Immunohistochemical studies (like p63 and CK5/6) can help to differentiate a
primary cutaneous neoplasm from a metastatic lesion. This discrimination is of a
paramount importance because a diagnostic error can result in profound
implications for patient's assumed prognosis and subsequently applied therapy.
Basal cell carcinoma and pilomatrixoma mirror human follicular embryogenesis as
reflected by their differential pattern of SOX9 and beta-catenin. Br J Dermatol. 2010 Jan 22
SUMMARY Background: The current classification schemes of adnexal tumors are
predominantly based on morphological and immunophenotypical similarities to adult
skin structures, whereas a link between the embryology of the skin and the
histogenesis of adnexal tumors has been largely neglected. Objective: To describe
the expression pattern of two proteins with proven relevance for hair follicle
homeostasis (SOX9 and beta-catenin) during human cutaneous embryogenesis and to
compare the findings with the expression in basal cell carcinoma (BCC) and
pilomatrixoma. Methods: Immunohistochemical evaluation of embryonic and adult
human scalp skin, BCC and pilomatrixoma with monoclonal antibodies against SOX9
and beta-catenin. Results: We found that the expression pattern of SOX9 and
beta-catenin during human hair follicle embryogenesis mirrors that of BCC and
pilomatrixoma in regard to its spatial distribution within the various follicular
subcompartments. Beginning with the hair peg stage, nucleocytoplasmic
immunoreactivity of beta-catenin is exclusively confined to the emerging matrix
(comparable to pilomatrixoma), whereas SOX9 is restricted to the primordial outer
root sheath (comparable to BCC). Conclusions: An appropriate immunophenotyping
validated within the conceptual framework of cutaneous developmental biology
allows for a logical classification of adnexal neoplasms. Expanding this approach
further has the potential to revise the current classification schemes so that
not only BCC and pilomatrixoma but all adnexal tumors can be logically
categorized.
Infiltrating syringomatous eccrine adenoma of the nipple: a case report. Cases J. 2009 Nov 30;2:9118.
BACKGROUND: Differential diagnosis for a nodule in the nipple or subareolar area
of woman includes both primary neoplasms of breast as well as those from skin and
adnexae. CASE PRESENTATION: A 32-year-old woman presented with a painless 0.5 cm
subareolar nodule of her left nipple that she had noticed for several months,
with no associated nipple discharge. A biopsy revealed an infiltrating adnexal
neoplasm with features similar to those seen in syringomas commonly occurring in
locations such as upper face and pubis. The infiltrating syringomatous adenoma of
the nipple occurs almost exclusively in women of all ages and is cured by simple
excision. Microscopic appearance of such a rare benign infiltrating neoplasm of
eccrine duct origin occurring in woman's breast should not be misinterpreted as
more common infiltrating primary breast carcinoma. CONCLUSION: Infiltrating
eccrine syringomatous adenoma should be included in the differential diagnosis of
a nipple or subareolar nodule occurring in woman.
Fine needle aspiration cytology of pilomatrixoma and differential diagnoses. Acta Cytol. 2009;53(6):683- 8.
OBJECTIVE: To review the cytologic features of pilomatrixoma to allow a
definitive diagnosis at the time of aspiration and correct patient management.
STUDY DESIGN: Three patients each presented with a mass lesion and on fine needle
aspiration were diagnosed as either having pilomatrixoma or a benign skin adnexal
tumor. The diagnosis was confirmed on histology. A retrospective analysis of the
cytology was performed. RESULT: The most consistent and predominant features for
diagnosis were basaloid cells, anucleate squamous cells and calcification in an
inflammatory background, often with giant cells. Only focal evidence of true
shadow or "ghost" cells was seen in one case on the Diff-Quik smear. Therefore,
lack of shadow cells does not preclude correct diagnosis in the presence of the
other relevant cytologic features. If all the major components of pilomatrixoma
are present in an aspirate, the diagnosis should not be problematic. However, if
one component predominates, this may lead to an erroneous diagnosis of other
benign and malignant lesions. CONCLUSION: Knowledge of the cytologic features of
pilomatrixoma will allow correct patient diagnosis and management.
Cytologic features of trichoblastoma in fine needle aspiration biopsies. Acta Cytol. 2009;53(6):679-82.
OBJECTIVE: To review the cytologic features of trichoblastoma in order to define
criteria that may aid in identification of these tumors at the time of aspiration
and allow a definitive diagnosis. STUDY DESIGN: A 58-year-old male presented with
a mass lesion on the thigh. On fine needle aspiration, the patient was diagnosed
as having a benign skin adnexal tumor. Histology showed the presence of a
trichoblastic fibroma, and a retrospective analysis of the cytology was
performed. RESULTS: The cytologic features of trichoblastoma resembled a cellular
fibroadenoma/phyllodes tumor on aspiration, not previously described in the
literature. If the cytomorphology of a skin or subcutaneous aspirate appears to
resemble that of a fibroadenoma, the diagnosis of a trichoblastoma should be
entertained. Peripheral palisading of nuclei at the edges of the basaloid cell
sheets and squamous eddy formation are clues to the diagnosis but may be very
focal and could be overlooked. If the tumor occurs in the region of the breast,
distinction from a fibroadenoma would be difficult if these additional features
were not prominent. CONCLUSION: Knowledge of the cytologic features of
trichoblastoma will allow correct management of the patient and prevent
misdiagnosis as other benign or malignant tumors.
Squamoid Eccrine Ductal Carcinoma: A Case Report and Review of the Literature.Am J Dermatopathol. 2009 Dec 14.
Eccrine ductal carcinoma is a rare adnexal tumor. Squamoid eccrine ductal
carcinoma (SEDC) represents an exceptionally rare variant with only 6 cases
reported to date. This neoplasm is deeply infiltrative and may provide a
diagnostic challenge in superficial shave biopsies of skin. We present a case of
SEDC in an immunocompromised patient, who, after an initial shave biopsy for
diagnostic purposes, underwent a complete excision of his tumor by Mohs
micrographic surgery. A combined histologic and immunohistochemical approach is
necessary to identify and confirm the unique characteristics of SEDC. Because
this cancer is very rare and little is known about its biologic behavior, optimal
diagnostic and treatment guidelines need to be developed.
Lymphoepitelioma-like carcinoma of the skin: report of three cases. J Cutan Pathol. 2009 Nov 18.
Primary cutaneous lymphoepithelioma-like carcinoma (LELC) is an extremely rare
cutaneous neoplasm with histopathological features similar to those seen in the
undifferentiated subtype of nasopharyngeal carcinoma. Microscopically, the tumor
is well circumscribed and is composed of irregular nests of malignant epithelial
cells in a background of reactive lymphoid cells including mature plasma cells.
Its histogenesis remains unknown although an adnexal or epidermic origin has been
proposed, and despite its poorly differentiated histology, the LELC prognosis is
relatively good. We describe three new cases of this entity that support an
epidermic origin.
Extramammary Paget's disease of the scrotum associated with hepatocellular
carcinoma. J Chin Med Assoc. 2009 Oct;72(10):542-6.
Extramammary Paget's disease (EMPD) is a rare cutaneous carcinoma of epidermal
origin. The diagnosis is frequently delayed, and the disease tends to be
associated with an underlying adnexal or internal malignancy. There have been
several reports of EMPD associated with carcinoma of the bladder, prostate,
kidney, and colon. The association of hepatocellular carcinoma (HCC) with EMPD
appears to be exceedingly rare; to our knowledge, it has been reported only once
in the English literature. Herein, we report an unusual case of EMPD of the
scrotum associated with HCC. EMPD was diagnosed 1 year after the appearance of an
erythematous plaque, and HCC was noted 19 months after the diagnosis of EMPD.
From our experience and literature review, in patients with nonspecific skin
lesions that are unresponsive to conventional treatment, EMPD should be
considered and skin biopsy performed. Long-term follow-up is needed to watch for
the appearance of adnexal carcinoma or internal malignancy.
Microcystic adnexal carcinoma: Mohs micrographic surgery as the treatment of
choice. Actas Dermosifiliogr. 2009 Oct;100(8):693-9.
INTRODUCTION AND OBJECTIVES: Microcystic adnexal carcinoma is a rare and
aggressive tumor that manifests clinically as a subcutaneous nodule located on
the head or neck. The tumor can be confused clinically and histologically with
other benign and malignant skin lesions, often leading to inappropriate initial
treatment. The chief concern with microcystic adnexal carcinoma is the elevated
morbidity and the high rate of recurrence after wide local excision. Recent
preliminary studies point to higher cure rates with Mohs micrographic surgery.
MATERIAL AND METHODS: We reviewed the medical histories of 6 consecutive patients
with microcystic adnexal carcinoma who underwent Mohs micrographic surgery in our
dermatology department between 1995 and 2007. RESULTS: In all cases, lesions were
located on the head and were primary tumors. Seventy percent of the tumors were
wrongly diagnosed initially as basal cell carcinoma. Perineural invasion was not
detected in any patient, and all were free of recurrence after between 1 and 12
years of postoperative follow-up. CONCLUSIONS: The absence of perineural
involvement and substantial cell atypia can be attributed to the lesions being
primary tumors. This would provide a rationale for definitive radical treatment
of the primary tumor from the outset to avoid the complications associated with
recurrence. The site and the absence of recurrence in all our patients who
underwent Mohs micrographic surgery support the use of this technique as the
treatment of choice in microcystic adnexal carcinoma.
Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of
a new name unifying porokeratotic eccrine ostial and dermal duct nevus and
porokeratotic eccrine and hair follicle nevus.J Am Acad Dermatol. 2009 Dec;61(6):1060.e1-14.
Porokeratotic eccrine ostial and dermal duct nevus and a similar condition,
porokeratotic eccrine and hair follicle nevus, are rare disorders of
keratinization with eccrine and hair follicle involvement. We describe the
clinical features in 5 patients, all of whom had widespread skin involvement
following the lines of Blaschko. Two patients presented with erosions in the
newborn period as the initial manifestation of their disease; one had an
associated structural anomaly, unilateral breast hypoplasia; and one adult had
malignant transformation in the nevus with development of multifocal squamous
cell carcinomas. Three patients had histologic involvement of both acrosyringia
and acrotrichia. Based on the observation of overlapping histologic features, we
propose the name "porokeratotic adnexal ostial nevus" to incorporate the
previously described entities porokeratotic eccrine ostial and dermal duct nevus
and porokeratotic eccrine and hair follicle nevus.
Atypical apocrine proliferation involving anogenital mammary-like glands of the
perianal region. J Cutan Pathol. 2009 Oct;36 Suppl 1:52-5.
Anogenital mammary-like glands (MLGs) are a normal constituent of the anogenital
area showing similarities to breast glands. MLGs are recognized to be the
possible origin for various neoplastic and reactive conditions that show homology
to their mammary counterparts. We report the case of an 85-year-old woman
presenting with 10 cm polypoid mass of the perianal region. Histopathological
examination of the excised lesion showed atypical apocrine proliferation arising
in a complex lesion with features of fibroadenoma, adenosis and hyperplastic and
cystic change. Normal MLGs were observed at the tumor periphery. There was no
recurrence after 3 years of follow up. This report represents an illustration of
the complexity of lesions developed from MLG.
Primary cutaneous cribriform apocrine carcinoma: a clinicopathologic and
immunohistochemical study of 26 cases of an under-recognized cutaneous adnexal
neoplasm. J Am Acad Dermatol. 2009 Oct;61(4):644-51.
BACKGROUND: Cribriform carcinoma is the histopathologic variant of cutaneous
apocrine carcinoma characterized by interconnected solid aggregations of
neoplastic cells that are punctuated by small round spaces. OBJECTIVE: To
describe the histopathologic and immunohistochemical characteristics of this
under-recognized cutaneous adnexal neoplasm. METHODS: Twenty-six cases of primary
cutaneous cribriform apocrine carcinoma were clinically, histopathologically, and
immunohistochemically studied. RESULTS: Seven neoplasms arose in males and 19 in
females. The median age of the patients was 47.8 years. The lower and upper limbs
were the most frequent sites. Histopathologically, the neoplasms consisted of
well-circumscribed dermal nodules composed of multiple, interconnected, solid
aggregations of basophilic epithelial cells that were punctuated by small round
spaces. Immunohistochemically, the neoplastic cells expressed immunoreactivity
for MNF116, AE1/AE3, Cam 5.2, cytokeratin 7, carcinoembryonic antigen, and
epithelial membrane antigen. LIMITATIONS: All specimens came from
dermatopathology laboratories, and some inherent selection bias may exist.
CONCLUSIONS: Primary cutaneous cribriform apocrine carcinoma is a distinctive but
little-known variant of cutaneous apocrine carcinoma.
Calcification and ossification in eccrine mixed tumors: underrecognized feature
and diagnostic pitfall. Am J Dermatopathol. 2009 Dec;31(8):772-7.
BACKGROUND: Eccrine mixed tumors of the skin are rare adnexal neoplasms, and
their morphological spectrum is not well established. OBJECTIVE: To highlight the
variation of the mesenchymal component of eccrine mixed tumors. METHODS: Among
70, 000 skin biopsies, 5 were diagnosed as eccrine mixed tumors. Cases were
studied for clinical, histopathological, and immunohistochemical features (S-100,
cytokeratin, epithelial membrane antigen, carcinoembryonic antigen, estrogen
receptors, and herceptin receptor (HER-2)). RESULTS: Lesions were
well-circumscribed dermal or subcutaneous nodules. Epithelial elements were small
round tubules, cords, and individual cell aggregations being larger at the
periphery and smaller toward the center. No signs of follicular or sebaceous
differentiation were seen. The stroma was mucinous and chondroid, calcification
ranging from little to extensive with bone formation in 3 examples giving the
impression of a chondroid or osseous neoplasm. S-100 stained epithelial and
chondroid stromal cells. Cytokeratin highlighted the silhouette of epithelial
elements. Estrogen receptors, EMA, carcinoembryonic antigen, and HER-2 were
negative. CONCLUSIONS: Eccrine mixed tumors are distinctive tumors that should
not be lumped together with their apocrine counterparts. Extensive ossification
and calcification may be present and may eclipse by far the epithelial elements.
Desmoplastic trichoepithelioma: a clinicopathological study, including a
comparison with morpheiform basal cell carcinoma.Ann Dermatol Venereol. 2009 Jun-Jul;136(6-7):501-7.
BACKGROUND: Desmoplastic trichoepithelioma (DTE) is an uncommon form of adnexal
tumour that was described for the first time as a separate clinicopathological
entity in 1976. We carried out a retrospective histopathological study of a large
series of cases of DTE in order to better characterise this tumour and compare it
with sclerodermiform basal cell carcinoma (BCC), which is in fact the most common
as well as the most complex type of differential diagnosis. PATIENTS AND METHODS:
We included in this study all cases of DTE diagnosed between 1979 and 2001 at our
dermatopathology laboratory. The clinical features were taken from the patient
files. Diagnosis was confirmed by two different examiners and all microscopic
elements were reviewed. The same clinical and demographic data were collected for
cases of BCC diagnosed over the same period. RESULTS: We included 68 cases of DTE
in 67 patients in our study, of whom 83.5% were women, and the mean age was 42.8
years. Lesions were found primarily on the head (98.5% of cases), mainly on the
cheeks (29.2% of cases) and forehead (23.1% of cases). The diagnosis was only
made by the clinician in four cases; in 38 cases the diagnosis made was BCC. In
all cases, histological examination revealed thin lines of basaloid epithelial
cells associated with small keratinising cysts. A common finding was granulomas
with foreign bodies and calcifications. In six cases (8.8%), a tumour combining
DTE with an intradermal naevus was observed. Mean clinical follow-up of 8 years
(1 to 23 years) in 29 patients showed absence of relapse or metastasis. Over the
same period, 662 cases of BCC were recorded in 499 patients, 58.9% of whom were
women. The mean age was 65.6 years. The principal location was the nose (34% of
cases). No cases of associated naevus were recorded. COMMENTS: DTE is a firm
plaque-like lesion, flesh coloured or yellowish, and generally with a depressed
centre; it is seen primarily in middle-aged women and occurs principally on the
cheeks and forehead. There is a significant association with naevus, a singular
feature among adnexal tumours. On average, it is 10 times less common than BCC.
The size of our study groups shows for the first time distinguishing features
with regard to BCC, for which the age of onset is far higher and predominance
among women less marked. Further, the sites are different, with BCC being seen
predominantly on the nose while DTE is seen mainly on the cheeks. A suggested
clinical diagnosis is thus possible.
Spiradenocarcinoma arising from a spiradenocylindroma: unusual case with
lymphoepithelioma-like areas. J Cutan Med Surg. 2009 Jul-Aug;13(4):215-20.
BACKGROUND: Hybrid skin adnexal tumors are common, and spiradenocylindroma is
well described. OBJECTIVE: However, malignant transformation in this setting is
infrequent, especially resemblance to lymphoepithelioma-like carcinoma of skin,
which is not associated with Epstein-Barr virus. METHODS: A 65-year-old female
presented with ataxia and a skin nodule composed of a hybrid adnexal tumor
(spiradenoma and cylindroma) that transitioned into an undifferentiated carcinoma
with attendant lymphocytes and plasma cells. There was widespread dissemination
of the undifferentiated component to regional neck lymph nodes. RESULTS: The
undifferentiated component resembled a lymphoepithelioma-like carcinoma and
showed focal evidence of tubular and squamous differentiation. The tumor was
Epstein-Barr encoded RNAs (EBER) negative by in situ hybridization. No evidence
of neuroendocrine differentiation was seen in the tumor, despite the patient
having symptoms of paraneoplastic ataxia that improved after surgery. CONCLUSION:
This case highlights the transition of a benign hybrid tumor
(spiradenocylindroma) into a spiradenocarcinoma that resembled
lymphoepithelioma-like carcinoma of skin. It also highlights two unusual
features: widespread lymph node dissemination and presentation with
paraneoplastic syndrome-associated ataxia.
Malignant proliferating trichilemmal cyst: a case report with review of
literature. Malays J Pathol. 2009 Jun;31(1):71-6.
Proliferating trichilemmal cyst is a rapidly growing large cutaneous adnexal
neoplasm occurring on the head and neck region of elderly women. Malignant
transformation has rarely been reported in these lesions. We describe here a
85-year-old lady who presented with a large ulcerated growth over the scalp for
one year duration. Incisional biopsy revealed proliferating trichilemmal cyst
with malignant transformation. She underwent wide local excision of this growth.
She is alive and without evidence of disease after 14 months of follow up.
Because of limited number of cases reported in literature, management of
malignant proliferating trichilemmal cyst is controversial. Treatment mainly
entails wide local surgical excision. Many other adjuvant modalities have been
tried. This paper presents the diagnosis and management of one case of malignant
proliferating trichilemmal cyst followed by review of the literature.
Mucoepidermoid (adenosquamous) carcinoma, trichoblastoma, trichilemmoma,
sebaceous adenoma, tumor of follicular infundibulum and syringocystadenoma
papilliferum arising within 2 persistent lesions of nevus sebaceous: report of a
case. Am J Dermatopathol. 2009 Oct;31(7):658-63.
Nevus sebaceous of Jadassohn (SNJ) is a congenital, hamartoma of multiple skin
structures and may classically evolve through several stages of maturation. Many
neoplasms have been reported to arise in association with SNJ, most commonly
trichoblastoma and syringocystadenoma papilliferum. The coexistence of 3 or more
tumors arising simultaneously within 1 lesion of SNJ is very rare. We report a
case of a 66-year-old woman with a coexistence of trichoblastoma, trichilemmoma,
sebaceous adenoma, tumor of follicular infundibulum, syringocystadenoma
papilliferum, and mucoepidermoid or adenosquamous carcinoma arising in 2 separate
and persistent SNJ exhibiting on her face with subsequent parotid node
metastasis. This report illustrates an extraordinary case of adnexal neoplasms
displaying diverse lines of differentiation arising within lesions of SNJ. We
also reported the second instance of mucoepidermoid arising within the lesion of
SNJ and also added sebaceous adenoma to the list of sebaceous tumors arising
within this lesion. Prophylactic excision or at least close clinical surveillance
for sudden development of new growths is warranted.
Chondroid syringoma diagnosed by fine needle aspiration cytology. Diagn Cytopathol. 2010 Jan;38(1):38-40.
Chondroid syringoma is a rare benign skin adnexal tumor of eccrine/apocrine
origin affecting commonly the head and neck region. It used to be previously
called as mixed tumor of skin because of the presence of both the epithelial and
mesenchymal components. There are only few case reports describing the fine
needle aspiration cytologic features of chondroid syringoma for diagnosis. We
studied a 20-year-old male case from Taplejung district of Nepal came to
Otorhinolaryngology out patient department with the complaints of painless,
progressively enlarging swelling on the dorsum of nose. On examination, 2.0 x 2.0
cm, firm, non-tender swelling was seen on the right side of dorsum of nose.
Overlying skin was normal, and the swelling was fixed to the skin but freely
mobile over underlying structure. A clinical diagnosis of dermoid cyst was
entertained, and the case was subjected to FNAC. FNA yielded mucoid material
which on microscopy showed clusters of round cells with moderate to abundant
cytoplasm embedded in chondromyxoid ground substance. The nuclei were
monomorphic, centrally to eccentrically located and had fine chromatin. On the
basis of these cytologic features, a diagnosis of chondroid syringoma was made.
We concluded that Chondroid syringoma may be considered as a rare differential
diagnosis in the swelling of head and neck region and the diagnosis can be easily
confirmed or ruled out by means of fine needle aspiration cytology.
Trichogerminoma.Am J Dermatopathol. 2009 Jul;31(5):480-3.
A case of distinctive benign follicular neoplasm previously reported under the
designation of trichogerminoma is described. A 45-year-old man presented with an
asymptomatic nodule on the scalp since 3 years. Histologically, the lesion
corresponded to a well-organized, symmetrical dermal nodule made up of basophilic
lobules included in a fibrocytic stroma. The lesion had the characteristics of
hair germ tumors; however, most lobules depicted a distinctive pattern of rounded
nests of concentrically arranged clear cells. Small follicle bulb-like basophilic
structures, foci of sebaceous differentiation, and areas of infundibulocystic,
isthmic, and outer sheath keratinization were also seen. This neoplasm and the
other tumors with hair germ differentiation such as trichoblastoma and
panfolliculoma seem to represent the same spectrum of hair follicle neoplasms
only distinguishable by their degree of differentiation.
Scrotal syringocystadenoma papilliferum: case report. Can J Urol. 2009 Jun;16(3):4684-6.
Syringocystadenoma papilliferum (SCAP) is a benign rare adnexal skin neoplasm,
which in a third of cases arises from a nevus sebaceous and is most commonly
found on the head and neck and in very rare instances found on the genitalia. We
report on a 59-year-old man with SCAP on the scrotum. The clinical scenario and
histopathological findings are outlined. Following excision and histological
confirmation of a noninfiltrative process, the patient remains asymptomatic. To
our knowledge, only three other cases of such a lesion on the scrotum have been
reported in the literature.
Rippled-pattern trichoblastoma with apocrine differentiation arising in a nevus
sebaceus: report of a case and review of the literature.J Cutan Pathol. 2009 Nov;36(11):1200-5.
A 36-year-old man developed a papular growth in a portion of a nevus sebaceus on
the post-auricular scalp. Excision showed typical histologic changes of nevus
sebaceus including epidermal papillomatosis with reduced numbers of hair
follicles as well as numerous sebaceous glands high in the dermis that focally
emptied directly to the overlying epidermis. Histologic sections of the papular
growth at the superior pole of the nevus sebaceus showed a proliferation of
cytologically bland basaloid epithelial tumor lobules both in the superficial
dermis, with multiple connections to the epidermis, and within the deeper dermis
in a nodular growth pattern demonstrating papillary mesenchymal bodies. Ductal
structures with apocrine-type decapitation secretion were present. There was
prominent palisading of nuclei in rows parallel to one another, alternating with
bands of homogenous eosinophilic stromal material forming a ripple pattern
resembling the Verocay bodies of schwannoma. The histologic features resembled
those of rippled-pattern trichoblastoma with apocrine differentiation arising in
a nevus sebaceus, an association not previously described. We discuss this case
as well as review the literature on rippled-pattern trichoblastoma.
Clear cells in cutaneous squamous cell carcinoma. Actas Dermosifiliogr. 2009 May;100(4):307-16.
INTRODUCTION: Although few cases of squamous cell carcinoma (SCC) with clear
cells have been published, we believe that these cells are often present in SCC.
MATERIAL AND METHODS: We studied 249 SCCs, analyzing a number of clinical and
histological variables. Various immunohistochemical techniques (immunoperoxidase
method) were used to determine whether adnexal differentiation was present.
RESULTS: There were 96 SCCs with a proportion of clear cells of over 25 %.
Advanced or established SCCs and SCCs associated with Bowen disease contained a
larger proportion of clear cells. We defined 2 histological patterns: a) clear
cells around the keratin pearls of SCCs arising from pre-existing actinic
keratosis and with indirect signs of human papilloma virus infection in hair
follicles; and b) clear cells that simulate adnexal differentiation in lesions
arising on pre-existing Bowen disease lesions. There were also 19 carcinomas with
true adnexal differentiation. DISCUSSION: Clear cells are frequently observed in
SCC, though large numbers of clear cells are present only in certain SCCs. The
appearance of clear cells in SCCs is progressive and they are only present in
more advanced SCC. The presence of clear cells is suggestive of adnexal
differentiation; however, in the majority of cases, their presence is due to
infiltration of normal adnexal structures by the cells of pagetoid Bowen disease.
True adnexal differentiation exists only in a small percentage of cases (7.6 % in
our study). The histological pattern described as clear cells around keratin
pearls practically rules out this differentiation.
Clear-cell hidradenoma in a child: a diagnostic dilemma for the cytopathologist. Diagn Cytopathol. 2009 ;37(7):531-3.
Primary cutaneous tumors are infrequently subjected to fine needle aspiration
cytology. As a result, the cytological reports of skin adnexal tumors like
hidradenoma are scarce in the available literature. A young boy with a painless
nodule on forehead underwent fine needle aspiration. The smears showed clusters
of epithelial cells containing blue cytoplasm, some of which had vacuolated
cytoplasm with mild nuclear pleomorphism and occasional larger hyperchromatic
nucleus. The cytological features, in conjunction with the clinical examination,
suggested a skin appendageal tumor. Though nuclear pleomorphism and occasional
larger nucleus posed a cytological diagnostic challenge, a diagnosis of benign
appendageal tumor was suggested, considering the young age of the patient. This
was later confirmed as a clear-cell hidradenoma on excision biopsy. The
cytopathologist should consider skin appendageal tumors during evaluation of
cutaneous nodules. An accurate diagnosis requires a close clinico-pathologic
correlation.
Cutaneous granular cell tumor: a clinical and pathologic analysis of 34 cases. Actas Dermosifiliogr. 2009;100(2):126-32.
BACKGROUND: Granular cell tumor (GCT), also known as Abrikossoff tumor, is an
uncommon benign neoplasm, probably of neural origin derived from Schwann cells.
It presents clinically as a solitary asymptomatic nodule and its pathogenesis has
been the subject of much debate in the literature. OBJECTIVES: We aimed to
analyze the clinical, histologic, and immunohistochemical characteristics
associated with this tumor and to determine whether these findings correspond to
those reported to date in the literature. METHODS: In this retrospective study of
34 patients with histologic diagnosis of GCT, we analyzed clinical
characteristics (site, age, sex, duration, and suspected diagnosis), histological
findings (border, cell atypia and mitoses, involvement of adnexal structures,
pseudoepitheliomatous hyperplasia, and presence of the recently described
pustulo-ovoid bodies), and immunohistochemical findings (S-100 staining in 16
randomly selected cases). RESULTS: In total, 58.82 % were men and 41.18 % were
women, and the mean age was 31.74 years. The most common site was the oral cavity
(61.76 %). The most frequently suspected clinical diagnosis was fibroma (17.65
%). The lesion was poorly defined and diffuse in 85.29 %. Pseudoepitheliomatous
hyperplasia was present in 58.82 %. Nuclear atypia was found in 29.41 % and
mitoses in 20.59 %. One case was considered malignant (2.94 %) and 2 atypical
(5.88 %). Pustulo-ovoid bodies were present in 47.06 % of the cases and S-100
staining was positive in all cases analyzed. CONCLUSIONS: Our series confirms the
characteristics described previously for GCT, except for certain peculiarities,
and supports the presence of pustulo-ovoid bodies as an additional histologic
finding for diagnosis of this tumor.
Immunohistochemical study of calretinin in normal hair follicles and tumors with
follicular differentiation. Actas Dermosifiliogr. 2008 Jul-Aug;99(6):456-63.
BACKGROUND: Selective immunostaining for calretinin labels the innermost layer of
the outer root sheath of normal hair follicles, which is difficult to distinguish
with hematoxylin-eosin staining. OBJECTIVE: The aim of this study was to
determine whether immunohistochemistry for calretinin allows identification of
cutaneous adnexal tumors with follicular differentiation towards cells of the
outer root sheath. MATERIAL AND METHODS: We analyzed the staining pattern for
calretinin by immunohistochemistry in 49 biopsies of cutaneous adnexal tumors
with follicular differentiation. RESULTS: Fifteen biopsies corresponded to
trichilemmomas/inverted follicular keratosis and had staining for calretinin in
the epithelium of the most superficial areas of the lesions and in squamous
eddies. Ten were trichilemmal cysts, which displayed staining of the cyst wall.
Three were basal cell carcinomas with variable staining according to the type of
follicular differentiation in each variant. One was a panfolliculoma that had
focal staining. Two were folliculosebaceous cystic hamartomas with staining of
the excretory duct of the sebaceous glands. Two pilomatricomas and 3
proliferative trichilemmal tumors had positive staining in the cellular layers
close to the lumen of the cystic structures. Nine
trichoblastomas/trichoepitheliomas, 2 infundibular cysts, 1 dilated pore of
Winer, and 2 acanthomas of the follicular sheath were negative for calretinin.
CONCLUSION: Immunohistochemistry for calretinin allows identification of
cutaneous adnexal tumors of the hair follicle or a component of the follicle with
differentiation towards cells of the outer root sheath.
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human
papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. J Am Acad Dermatol. 2008 Aug;59(2):279-94.
BACKGROUND: The hamartoma nevus sebaceus (NS) presents at birth or early
childhood as a yellowish plaque characterized histologically by variable
acanthosis, papillomatosis, sebaceus hyperplasia, and proliferations of adnexal
structures. Clinically apparent human papillomavirus (HPV) infection is also
recognized by acanthosis and papillomatosis. OBJECTIVE: We sought to determine
the prevalence and physical state of HPV DNA in NS. METHODS: DNA was retrieved
from 44 formalin-fixed, paraffin-embedded samples of NS (22 with secondary tumors
[eg, trichoblastoma, verruca, syringocystadenoma papilliferum] and two epidermal
nevi [EN]). Nested polymerase chain reaction with multiple degenerate consensus
and type-specific primers and direct sequencing of polymerase chain reaction
products was performed. For selected cases, in situ hybridization using probes
specific for HPV 5 and 8 and for high-risk genital-mucosal HPV types was
performed. RESULTS: HPV DNA was detected in 82% of NS and both EN, and consisted
of genital-mucosal HPV types in 52% (HPV 6, 16, and 33) and a diverse variety of
epidermodysplasia verruciformis-associated HPV types in 61%, including well-known
epidermodysplasia verruciformis HPV types (5, 8, 15, 20, 22, 24, 36, 37, 38, and
80) and putatively novel epidermodysplasia verruciformis HPV types (DL285, DL287,
DL436, and alb-1, -2, -3, -5, -6, -7, -8, -10, -11, -12, and -13). HPV
coinfection was frequent, found in 48% (two HPV genotypes in 35% and 3 in 13%).
Of NS and EN, 42% had HPV genotypes associated with cancer (ie, HPV 5, 8, 16, 20,
33, and 38); the two most commonly identified HPV types where HPV 16 (39%) and
HPV 38 (18%). No differences were detected comparing frequency of HPV DNA
detected with respect to age or presence of a secondary tumor. Histologically,
all NS and EN showed HPV-associated cytopathic effects (ie, perinuclear halos,
altered keratohyaline granules). By in situ hybridization, 64% (18/28) were
positive, showing a low-intensity, punctate nuclear signal in epidermal and
adnexal keratinocytes, indicating viral integration and low viral genome copy
number. LIMITATIONS: Absence of adjacent, uninvolved normal-appearing skin
control samples. CONCLUSION: HPV DNA is prevalent in NS, and HPV 16, the most
frequently detected genotype, appears to be integrated into the host genome.
Whether HPV represents a commensal infection caused by localized cutaneous
predisposition, or is an essential factor in the pathogenesis of NS is unknown.
The high frequency of oncogenic HPV types implicates maternal transmission of HPV
and infection of an ectodermal stem cell leading to an epigenetic mosaic and
altered skin development manifested along Blaschko's lines.
Squamous cell carcinoma with clear cells: how often is there evidence of
tricholemmal differentiation? Am J Dermatopathol. 2008 Aug;30(4):333-9.
Clear-cell carcinoma of the skin was described by Kuo in 1980 as a cutaneous
tumor composed of clear cells that lacked cytoplasmic glycogen or evidence of
tricholemmal keratinization. Tricholemmal carcinoma (TC) is conventionally
considered to be a neoplasm derived from adnexal keratinocytes with glycogenated
clear cells and evidence of outer root sheath or tricholemmal differentiation.
The existence of TC has been questioned as it has been argued that without clear
immunohistochemical evidence of outer root sheath differentiation, TC cannot be
distinguished from clear-cell carcinoma of the skin. Our laboratory has not
routinely stained the cases that appear to be carcinomas with clear keratinocytes
to determine if glycogen is present and has not made the diagnosis of TC. We
sought to test whether the presence of glycogen, light microscopic features said
to be typical of TC, or immunohistochemical findings would delineate a group of
"true" TC among the cases that we have been recording as squamous cell carcinomas
with clear cells (SCC-C). 40 cases of SCC-C were evaluated for 7 histologic and
histochemical criteria (a lobular arrangement, peripheral palisading,
tricholemmal keratinization, folliculocentricity, evidence of a preexisting
tricholemmoma, the presence of intracytoplasmic glycogen, and a thickened
basement membrane) said to characterize TC. Selected cases were then stained for
immunohistochemical markers (CD34, CK17, and NGFR/p75) that have been used as
evidence for tricholemmal differentiation in some studies. Of the 40 cases, 38
(95%) SCC-C showed intracytoplasmic glycogen (periodic Schiff positivity
abolished by diastase) and 55% of cases showed foci of tricholemmal
keratinization. Overall, the carcinomas showed a spectrum of the above aggregated
criteria ranging from 0 to 5. None possessed all the criteria expected in an
ideal TC. In addition, the majority of the selected SCC-C in this study were
negative (85%) for antigens typically found in the outer root sheath epithelium
of the hair follicle. The glycogen-free clear-cell carcinoma described by Kuo
seems uncommon in our patient population. Rare cases of SCC-C met the majority of
Headington's criteria for TC or showed immunohistochemical evidence of
tricholemmal differentiation. Thus, we also conclude that well-differentiated TC
is rare and its description in the literature may overstate the case that it is a
well-characterized cutaneous neoplasm.
Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms:
insight into Muir-Torre syndrome.Cancer. 2008 Dec 15;113(12):3372-81.
BACKGROUND: Sebaceous tumors of the skin occurring in association with an
internal malignancy characterize Muir-Torre syndrome (MTS), a variant of
hereditary nonpolyposis colon cancer (Lynch syndrome). To the authors' knowledge,
only limited information exists regarding incidence patterns of sebaceous
carcinoma (SC), and no prior study has quantified risks of associated cancers.
METHODS: The authors calculated cutaneous SC incidence rates (IRs) and IR ratios
in 9 US Surveillance, Epidemiology, and End Results program registries
(1973-2003). Indirectly standardized incidence ratios and 95% confidence
intervals (95% CIs) were calculated for subsequent cancers among 2-month
survivors of SC and for subsequent SC after other primary cancers. RESULTS: Among
664 cases of cutaneous SC, nearly 90% were diagnosed among whites (IR, 0.11 per
100,000 person-years), with significantly lower IR noted among blacks (IR, 0.04).
Whereas eyelid SC IRs demonstrated no sex differences and stabilized in recent
years, IRs of noneyelid SC predominated in men and rose steadily over time.
Survivors of SC had a 43% (95% CI, 15%-76%) increased risk of subsequent cancer,
and risk of SC was elevated by 52% (95% CI, 24%-84%) among survivors of other
cancers. Whether before or after SC, the significant excesses of other primary
cancers were limited to noneyelid SC. Patterns suggestive of genetic
predisposition included >20-fold risks for early-onset (diagnosed in patients
aged <50 years) SC associated with colon, pancreatic, ovarian, or uterine corpus
cancers, whereas late-onset SC (diagnosed in patients aged > or =50 years)
predisposed to ureter cancer. CONCLUSIONS: This population-based study of
cutaneous SC revealed an association with a spectrum of early-onset cancers
consistent with MTS. Etiologic heterogeneity was suggested by differences between
eyelid and noneyelid SC in incidence patterns and associated cancer risks.
Perianal Paget's disease: five cases report.G Chir. 2008 Nov-Dec;29(11-12):469-74.
AIM: Extramammary Paget's disease is a rare neoplastic condition, often
associated with a synchronous or metachronous underlying skin or visceral
malignancies. The aim of this study was to evaluate retrospectively the results
we got in 5 cases of perianal Paget's disease and to revise what literature have
reported about this issue. PATIENTS AND METHODS: Five patients with perianal EMPD
were consecutively treated in our Division between March 1996 and December 2006.
In 3 cases the disease was limited to the epidermidis, in one case with multiple
recurrences there was dermal infiltration, and one patient had a low rectal
adenocarcinoma with pagetoid phenomenon. The surgical treatment we performed in
all patients was a wide perianal excision, followed by reconstruction with
cutaneous grafts; the resection of rectal adenocarcinoma was carried out using
the transanal approach. In two cases we performed a temporary stoma with the
sigmoid colon to help the wound healing. RESULTS: We didn't record any
complication neither postoperative nor at long time. Two patients developed a
local recurrence, but none of our patients showed distant metastases. Four
patients are alive and free from disease and one, who developed a multiple local
recurrences, died for heart failure. DISCUSSION: The studies available in
literature clearly distinguish between a primary EMPD
(intraepidermal/intradermal) and secondary disease which is associated with
anorectal adenocarcinomas and is thought to be a pagetoid phenomenon, while few
informations can derive from those cases in which the disease is associated with
an underlying cutaneous adnexal carcinoma. Disease tend to relapse even after a
radical surgery and can have metastatic spread, also in intraepidermal form.
CONCLUSIONS: Perianal EMPD is a complex disease, difficult to recognize and the
association with synchronous or metachronous malignancies imposes long term
clinical and instrumental follow up.
Extramammary Paget disease. Dermatol Online J. 2008 Oct 15;14(10):15.
A 59-year-old man presented with a well-demarcated, tender ulcer at the base of
the penile shaft that had been present for approximately five years. The ulcer
had been responsive neither to topical antibacterials, antifungals, and
glucocorticoids nor to oral acyclovir. A biopsy specimen showed an
intra-epidermal neoplasm consistent with extramammary Paget disease (EMPD) based
on light microscopy and immunohistochemistry. Patients with EMPD require
extensive medical evaluation because of its association with adnexal carcinoma
and visceral malignant conditions. Evaluation should include a full body skin and
lymph node examination, colonscopy, cystoscopy, and sex-specific studies
including pelvic and breast examinations, with imaging for women and prostate
examination with prostate specific antigen levels for men. Close monitoring after
treatment is important because of the recognized risk of recurrence and malignant
conditions.
Microcystic adnexal carcinoma: a diagnostic and therapeutic challenge. Dermatol Ther. 2008 Nov-Dec;21(6):452-8.
Microcystic adnexal carcinoma (MAC) is a rare cutaneous neoplasm that is often
diagnosed after having been present for a significant period of time. It appears
bland on histologic evaluation despite its locally aggressive behavior. Actual
skin involvement is significantly more extensive than can be determined
clinically and because of this, therapy is challenging. Though metastasis is
rare, there have been reports of both regional and distant metastatic disease.
Several treatment modalities have been used to date, including standard excision
(SE), Mohs micrographic surgery (MMS), irradiation, chemotherapy, and
observation. There has also been discussion in the literature regarding
techniques than can aid in assurance of clear margins with MMS. We review the
literature on MAC, including the various therapeutic options, addressing when one
modality may be preferable over others. In general, MMS offers the highest
likelihood of clear margins and cure with the fewest procedures.
Pilomatrix carcinoma presenting as an extra axial mass: clinicopathological
features. Diagn Pathol. 2008 Nov 29;3:47.
ABSTRACT: Pilomatrix carcinoma is the rare malignant counterpart of
pilomatrixoma, a skin adnexal tumour originating from hair matrix cells.
Pilomatrix carcinoma can arise as a solitary lesion de novo, or through
transformation of a pilomatrixoma. Pilomatrixoma was first described erroneously
as being of sebaceous gland origin but was later discovered to be derived from
hair matrix cells. They are rare, slow growing tumours of the skin found in the
lower dermis and subcutaneous fat and are predominantly found in the neck and the
scalp. While known to be locally aggressive, no malignant form was thought to
exist until it was described relatively recently. Since then, approximately
ninety cases of pilomatrix carcinoma have been reported.We report the case of a
41 year old mentally retarded male who had a longstanding lesion in the left neck
for approximately fifteen years previously diagnosed as a pilomatrixoma. He
presented with severe headache, falls and visual disturbance and a biopsy showed
pilomatrix carcinoma of the occipital region which, on computed tomography ( CT )
invaded the occipital bone, the cerebellum and the left temporal lobe. At his
initial presentation he had a craniotomy and subtotal excision of the lesion but
received no adjuvant therapy. After an early intracranial recurrence he had
further debulking and adjuvant external beam radiotherapy. He has had no further
intracranial recurrence after three and a half years of follow-up. Here we
present the pathological features of this uncommon tumour.
Current progress of immunostains in Mohs micrographic surgery: a review.Dermatol Surg. 2008 Dec;34(12):1621-36.
Mohs micrographic surgery is often considered the treatment of choice for a
variety of skin malignancies. In recent years, the application of immunostaining
techniques has facilitated the successful removal of a number of common and less
common cutaneous malignancies, including basal cell carcinoma, squamous cell
carcinoma, malignant melanoma, dermatofibrosarcoma protuberans, microcystic
adnexal carcinoma, sebaceous carcinoma, atypical fibroxanthoma, extramammary
Paget's disease, and even sarcomas. Immunostains highlight the tumor cells and
allow the Mohs surgeons to pinpoint and eliminate the residual tumor at the
surgical margin. It is especially helpful when a tumor presents with subtle or
nonspecific histologic features or when a tumor is masked in a pocket of dense
inflammation. However, the cost, the labor, and the time consumption are of
concern to many of our peers, as are the diversity of antigens, which may
overwhelm some. This article serves as a review of the literature on current uses
of immunostaining in Mohs micrographic surgery and as a summary of their
realistic applications in the dermatologic surgeon's practice. We conclude that
immunohistochemical technique has played an important role in Mohs surgery
advancement. With greater use and more cost-effective staining methods, we
believe that the use of immunostains in a Mohs practice will become routine.
Mucinous carcinoma of the skin: evaluation of lymphatic invasion with D2-40.Am J Dermatopathol. 2008;30(5):504-8.
Primary cutaneous mucinous carcinoma is a rare adnexal sweat gland neoplasm that
mainly affects elderly people. Differential diagnosis includes mammary and
gastrointestinal metastatic mucinous carcinoma (MC) and secondary cutaneous
involvement by underlying neoplasms. An 83-year-old woman presented with an
8-year history of slow-growing infiltrate plaque in her right hemithorax, with
ulceration on supraclavicular area, right upper limb edema and palpable axillary
lymphadenopathies. She underwent partial excision of the tumor and local
radiotherapy. Imaging studies showed widespread cutaneous dissemination with
enlargement of ipsilateral axillary lymph nodes but without evidence of
underlying breast cancer. Histopathological examination showed large amounts of
mucin in the dermis including small islands of epithelial cells. They stained
positive for cytokeratin 7, carcinoembryonic antigen, epithelial membrane
antigen, gross cystic disease fluid protein-15, and c-erbB-2. Lymphatic invasion
was demonstrated by D2-40-immunostained sections. A diagnosis of primary
cutaneous mucinous carcinoma was made. Our aim was to reevaluate the differential
clinical, histopathological, and immunohistochemical criteria for distinguishing
primary cutaneous mucinous carcinoma from skin metastases of visceral mucinous
carcinoma, especially those arising in breast. We also propose D2-40 as a
reliable marker to detect lymphatic invasion that indicates a strong aggressive
trend with shorter recurrence-free and predicts nodal metastases.
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