Pathology of Lipoid Proteinosis

Dr Sampurna Roy MD                     2022

Lipoid proteinosis (LP) is a very rare, autosomally recessive, inherited disease.

It is also known as Urbach Wiethe disease or Hyalinosis cutis et mucosa.  

It is characterized by a hoarse voice, warty skin infiltration and scarring.

Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, papular eruption in the axillary area and tuberous nodules on the elbows.

Mutations within the extracellular matrix protein 1 (ECM1) gene cause lipoid proteinosis.

Lipoid proteinosis mainly involves skin and mucosal membranes of upper aerodigestive tract as well as central nervous system, lung, lymph nodes and striated muscles.

Histologically, there is diffuse deposition of a hyaline-like substance in the superficial dermis and submucosal connective tissue.

Images of Dermatopathology Case 126:  

Initially,PAS-positive diastase resistant hyaline material is demonstrated around small blood vessels and at the periphery of eccrine sweat glands. 

In advanced cases deposits around blood vessels may have a onion-skin appearance.

Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis.

Bilateral selective amygdala calcifications: lipoid proteinosis.

Lipoid proteinosis with bilateral amygdalae calcifications, headache, and cognitive impairments.

Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology.

Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.

Prominent corneal nerves: a novel sign of lipoid proteinosis.

Lipoid proteinosis in the eastern Mediterranean region of Turkey.

[Lipoid proteinosis of Urbach-Wiethe: a case report].

Lipoid proteinosis: case report and review of the literature.