Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3

Abstract

Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients are at a significant risk of developing a variety of skin complications and little is known about the prevalence of dermatologic diagnoses in this population. Objectives To report dermatologic manifestations in patients with Hermansky–Pudlak syndrome (HPS). Secondary aims include skin concerns, sun protection habits, barriers to dermatologic care, and skin cancer knowledge. Methods Cross-sectional study with twenty-nine Puerto Rican patients who carried a clinical diagnosis of HPS type 1 or type 3 through a telephonic questionnaire. Results Twenty-nine patients participated with a mean (SD) age of 37.3 (16.8) years and the majority were female (69%). The most common diagnoses were skin cancer (34.5%), acne (34.5%), bacterial skin infections (34.5%), warts (24%), urticaria (17.2%), and psoriasis (17.2%). The most common skin concerns were dry skin (62.1%), hair loss (58.9%), redness (34.5%), moles (31%), and rash (31%). The most common sun protection behavior was wearing a shirt that covers the shoulders (93.1%, often or always) and the least common was wearing a hat (24.1%, often or always). Higher income was significantly associated with being more likely to use sunscreen often or always (OR = 3.38, 95% CI 1.02–11.18, p = 0.04). Those in northern urban areas were significantly less likely to report barriers to dermatologic care (OR = 0.13, 95% CI 0.02–0.76, p = 0.02). Conclusions This study provides an important overview of the most common self-reported skin manifestations in patients with HPS. Unfortunately, a high prevalence of cutaneous malignancy was reported. The results stress the need for adequate care and potential interventions to promote sun protection behaviors and skin cancer prevention.

Interdisciplinary approach to diagnosis of life-threatening form of albinism: Germanic-Pudlac syndrome case type 1

“…Распространенность заболевания колеблется от 1 до 9 новорожденных на 1 млн населения [6]. Самая высокая распространенность синдрома зарегистрирована на северо-западе Пуэрто-Рико -около 1:1800 [7].…”