Which cutaneous findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Patients with Hermansky-Pudlak syndrome commonly have blond hair and pale skin, as demonstrated in the image below. Some have brown hair and brown eyes.

The face of a Puerto Rican girl with Hermansky-Pud The face of a Puerto Rican girl with Hermansky-Pudlak syndrome. Note the blond hair and the pale skin.

Melanocytic nevi with dysplastic features, acanthosis nigricans–like lesions in the axillae and the neck, and trichomegaly have been reported to occur.

Metastatic skin involvement of granulomatous colitis in Hermansky-Pudlak syndrome has been reported. [32]


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