Hermansky-Pudlak syndrome
-
Austin B. Ambur
and
Timothy A. Nyckowski
A 58 year-old man from Puerto Rico presented to our clinic in September 2018 for multiple nonhealing wounds on the face and scalp. Physical examination was remarkable for bright blue eyes, numerous lentigines, actinic damage, and decreased pigmentation of the skin, hair, eyebrows, and eyelashes (Figures 1 –3). The patient stated that his hair and skin have been lightly pigmented since birth and began developing brown pigmented lesions during childhood. His past medical history was also remarkable for multiple nonmelanoma skin cancers, easy bruising, nystagmus, and a diagnosis of pulmonary fibrosis in his late 40s that required lung transplantation. Given the patients physical examination findings, he was diagnosed with Hermansky-Pudlak syndrome (HPS). Chemoprevention with nicotinamide was initiated, and he was monitored with regular skin examinations every 3 months thereafter. He was advised to avoid aspirin and NSAIDs given the high risk of platelet dysfunction associated with his condition. The patient was closely followed by our clinic and treated for multiple cutaneous squamous cell carcinomas over the following 2 years, but he was then lost to follow-up.
Blue eyes and decreased pigmentation of the skin, hair, eyebrows, and eyelashes. There are numerous coalescing brown macules and erythematous scaly papules in sun-exposed regions of the face and chest.
Decreased pigmentation of the skin, hair, eyebrows, and eyelashes. There are numerous coalescing brown macules and erythematous scaly papules in sun-exposed regions of the face.
Blue eyes and decreased pigmentation of the eyebrows and eyelashes.
HPS is an autosomal recessive multisystemic disorder characterized by oculocutaneous albinism, bleeding diathesis, and the involvement of various internal organs [1]. HPS is seen with higher frequency in Puerto Rican patients, which is believed to be due to a founder effect [2]. Genetic mutations in HSP result in defective biogenesis of melanosomes and lysosome-related organelles [1]. Systemic complications may include granulomatous colitis, pulmonary fibrosis, and cardiomyopathy as a result of lysosomal ceroid accumulation. Bleeding diathesis is due to a platelet storage pool defect and may manifest as ecchymoses, nosebleeds, and menorrhagia. Platelets will classically demonstrate an absence of dense bodies on electron microscopy. Ocular findings may include pale irides and early nystagmus. Cutaneous malignancies are common. The most common cause of death is pulmonary fibrosis, with a life expectancy of 30–50 years [3]. Frequent skin examinations, annual pulmonary function tests beginning at age 20, and avoidance of aspirin or NSAIDs are an essential aspect of the long-term management [3].
-
Research funding: None reported.
-
Author contributions: Both authors provided substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; both authors drafted the article or revised it critically for important intellectual content; both authors gave final approval of the version of the article to be published; and both authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
-
Competing interests: None reported.
-
Informed consent: The patient described in this report provided written informed consent.
References
1. Huizing, M, Helip-Wooley, A, Westbroek, W, Gunay-Aygun, M, Gahl, WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genom Hum Genet 2008;9:359–86. https://doi.org/10.1146/annurev.genom.9.081307.164303.Search in Google Scholar PubMed PubMed Central
2. Toro, J, Turner, M, Gahl, WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol 1999;135:774–80. https://doi.org/10.1001/archderm.135.7.774.Search in Google Scholar PubMed
3. El-Chemaly, S, Young, LR. Hermansky-Pudlak syndrome. Clin Chest Med 2016;37:505–11. https://doi.org/10.1016/j.ccm.2016.04.012.Search in Google Scholar PubMed PubMed Central
© 2022 the author(s), published by De Gruyter, Berlin/Boston
This work is licensed under the Creative Commons Attribution 4.0 International License.
Articles in the same Issue
- Frontmatter
- Editorial
- Paralympic golf movement: the links between inclusion and treating the whole person to regain function
- General
- Original Article
- The effects of wearing a mask on an exercise regimen
- Medical Education
- Original Articles
- Promoting cultural competency and osteopathic medicine awareness among premedical students through a summer premedical rural enrichment program
- The effect of postgraduate osteopathic manipulative treatment training on practice: a survey of osteopathic residents
- Musculoskeletal Medicine and Pain
- Original Article
- Optimizing chronic pain management through patient engagement with quality of life measures: a randomized controlled trial
- Pediatrics
- Original Article
- Asthma medications in schools: a cross-sectional analysis of the Asthma Call-back Survey 2017-2018
- Public Health and Primary Care
- Review Article
- Thoracic outlet syndrome: a review for the primary care provider
- Clinical Image
- Hermansky-Pudlak syndrome
- Letter to the Editor
- Comments on “Mini-medical school programs decrease perceived barriers of pursuing medical careers among underrepresented minority high school students”
Articles in the same Issue
- Frontmatter
- Editorial
- Paralympic golf movement: the links between inclusion and treating the whole person to regain function
- General
- Original Article
- The effects of wearing a mask on an exercise regimen
- Medical Education
- Original Articles
- Promoting cultural competency and osteopathic medicine awareness among premedical students through a summer premedical rural enrichment program
- The effect of postgraduate osteopathic manipulative treatment training on practice: a survey of osteopathic residents
- Musculoskeletal Medicine and Pain
- Original Article
- Optimizing chronic pain management through patient engagement with quality of life measures: a randomized controlled trial
- Pediatrics
- Original Article
- Asthma medications in schools: a cross-sectional analysis of the Asthma Call-back Survey 2017-2018
- Public Health and Primary Care
- Review Article
- Thoracic outlet syndrome: a review for the primary care provider
- Clinical Image
- Hermansky-Pudlak syndrome
- Letter to the Editor
- Comments on “Mini-medical school programs decrease perceived barriers of pursuing medical careers among underrepresented minority high school students”
