Hailey-Hailey Disease

Path Quiz Case- 29

Dr Sampurna Roy MD

Case history and images:

click on the images

April 2008

Normal Histology of Skin

Glossary

Gross examination of the skin specimen

Reporting of biopsies taken for Inflammatory Skin Diseases

Lichenoid (Interface)Tissue Reaction Pattern

Psoriasiform Reaction Pattern

Vesiculobullous Reaction Pattern

Spongiform Reaction Pattern

Vasculopathic Reaction Pattern

Lichen planus-like lesions

Bullous Pemphigoid

Dermatitis Herpetiformis

Drug related cutaneous lesions

Cutaneous lesion in graft-
versus host disease

Site created by

Dr Sampurna Roy MD

http://www.histopathology-india.net/dermpath.htm

Skin Tumours

Skin Adnexal (Appendage) Tumours

Benign Sweat Gland Tumours

Apocrine/Eccrine Hidocystoma

Hamartomas

Chondroid syringoma

Syringoma

Syringocystadenoma Papilliferum

Hidradenoma Papilliferum

Papillary Eccrine Adenoma

Apocrine Adenoma

Classification of Malignant Sweat Gland Tumours

Mucinous carcinoma

Porocarcinoma

Extramammary Paget's disease

Digital papillary adenocarcinoma

Microcystic adnexal carcinoma

Apocrine carcinoma

Adenoid cystic carcinoma

Hidradenocarcinoma

Spiradenocarcinoma

Syringomatous ca

Eccrine ductal carcinoma

Clear cell carcinoma

Tumours of the Hair Follicle

Folliculosebaceous Cystic Hamartoma

Sebaceous Hyperplasia

Sebaceoma

Sebaceous Adenoma

Sebaceous Carcinoma

Primary Cutaneous Lymphoma

Hailey-Hailey disease (familial benign chronic pemphigus)) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae.

It is caused by mutations in the ATP2C1 gene encoding a novel Ca(2+) pump.

The blistering dermatitis is characterized by acantholytic cells present in foci throughout at least half of the thickness of the epidermis.

Site: Predominantly involve the neck, groin , inframammary, perianal and axillary regions. Rarely oral, ocular, esophageal and vaginal cases have been reported

Age: Usually occurs in the second or third decade of life.

Clinical presentation: Usually presents as well demarcated plaques. Rare variants: Papular, annular, verrucous, and vesiculopustular variants.

Course: This chronic disease is characterized by spontaneous remission with subsequent exacerbation.

Histopathological features: Image Link1 ; Image Link2 ; Image Link3; Image Link4.

Histologically Hailey-Hailey Disease has a characteristic 'dilapidated brick wall appearance'.

Early:

Superficial perivascular infiltrate of mainly lymphocytes ; Changes are located in focal areas in the lower half of the epidermis ; Vacuoles are present between basal cells and spinous cells and between spinous cells .

Fully developed:

Moderately dense perivascular and interstitial infiltrate of lymphocytes ; Edema of the papillary dermis ; Acanthosis ; Suprabasal blister ; Acantholytic dyskeratotic cells, some with polygonal outlines, above the basal layer either singly or in clumps lining the clefts ; Present throughout at least the lower half of the epidermis ; Infundibular epidermis and epithelial structures of adnexa spared by the acantholytic process ; Scale-crusts ; Neutrophils are sometimes numerous within the vesicle or in the surface crust.

Late:

All the features of fully developed lesions with the addition of a mixed-cell infiltrate, acantholytic cells increasingly dyskeratotic, and more prominent scale-crusts.

Differential diagnosis:

Hailey-Hailey variant of Grover's disease: Narrow vesicle involving not more than a few rete ridges. Hailey-Hailey disease is more florid e.g., more confluence, more markedly thickened epidermis, more acantholytic cells, more dyskeratotic cells with polygonal outlines, more vesiculation, and more scale-crusts.

Pemphigus vulgaris: Less acantholysis & acantholytic cells are confined to the suprabasal region; some cells show more prominent dyskeratosis ; epidermis of relatively normal thickness ; infundibular epidermis and epithelial structures of adnexa are involved by the process ; there are no scale-crusts.