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

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.

An Unusual Case of Deep Localized Scleroderma in a Patient with Chronic Kidney Disease.

Localized scleroderma (LS) is a rare fibrosing disorder of skin and underlying tissues. Although it can affect all races, it has a higher prevalence in whites. Deep LS is the least common among seven LS variants, representing less than 5% of cases, and typically affects areas of pressure such as the hips and waist. We report a unique clinical case of bilateral lower extremity deep LS in a 51-year-old Puerto Rican woman with chronic kidney disease (CKD). In patients with CKD, it is important to distinguish LS from nephrogenic systemic fibrosis (NSF). Both can present with skin fibrosis and contractures over joints yet have significantly differing treatment approaches and prognosis. Our case report is unique due to the patient's Puerto Rican ethnicity, CKD history, and isolated anterior lower extremity involvement. In this report, we highlight key clinical and histopathological findings of LS, and how they differ from that of NSF.