Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome

Pediatr Dermatol. 2013 Nov-Dec;30(6):e278-80. doi: 10.1111/j.1525-1470.2012.01728.x. Epub 2012 Apr 4.

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder characterized by oculocutaneous albinism, a hemorrhagic diathesis due to platelet dysfunction, and lysosomal ceroid accumulation that can cause a Crohn's-like granulomatous colitis and pulmonary fibrosis. We report peristomal and vulvar cutaneous involvement of the granulomatous colitis in HPS.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Crohn Disease / etiology*
  • Crohn Disease / pathology*
  • Female
  • Hermanski-Pudlak Syndrome / complications*
  • Hermanski-Pudlak Syndrome / pathology*
  • Humans
  • Skin / pathology
  • Skin Ulcer / etiology*
  • Skin Ulcer / pathology*
  • Vulva / pathology