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

Orphanet J Rare Dis. 2022 Jul 30;17(1):305. doi: 10.1186/s13023-022-02464-w.


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.

Keywords: Albinism; Genetics; Hermansky–Pudlak syndrome; Medical dermatology; Rare disease.

MeSH terms

  • Adult
  • Albinism*
  • Cross-Sectional Studies
  • Female
  • Hemorrhagic Disorders
  • Hermanski-Pudlak Syndrome* / diagnosis
  • Hermanski-Pudlak Syndrome* / epidemiology
  • Humans
  • Male
  • Skin Neoplasms* / complications

Supplementary concepts

  • Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells