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

Patrícia E C Daldon1, Marcela Baraldi Moreira, Sabrina R Talarico

  • 1Ambulatório de Dermatologia da Pontifícia Universidade Católica de Campinas - Campinas (SP), Brasil.

Dermatology Online Journal
|December 6, 2011
PubMed

Insights

Lipoid proteinosis, a rare genetic disorder, causes skin thickening and hoarseness due to hyaline material deposition. This case highlights typical clinical and histopathological findings in a 12-year-old boy.

Area of Science:

  • Genetics
  • Dermatology
  • Pathology

Background:

  • Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder.
  • It results from mutations in the EMC1 gene, leading to hyaline material deposition.
  • Clinical features include hoarseness and skin infiltration starting in early childhood.

Observation:

  • A 12-year-old boy presented with hoarse voice and characteristic skin changes.
  • Manifestations included thickened skin with yellowish papules on the eyelids, tongue, and lip infiltration, and varicella-like scars.
  • Histopathology confirmed PAS-positive, diastase-resistant hyaline deposition at the dermoepidermal junction and around vessels.

Findings:

  • Histopathological examination revealed characteristic hyaline deposition.
  • Ultrastructural analysis showed thickened basal lamina of vessels and amorphous material in the dermis.
  • Genetic analysis was not performed in this case.

Implications:

  • This case illustrates the typical clinical and histopathological presentation of lipoid proteinosis.
  • Understanding these features aids in diagnosing this rare mucocutaneous disorder.
  • Further research into EMC1 gene mutations and therapeutic strategies is warranted.

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