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Diagnostic delay in Hermansky-Pudlak syndrome: report of a case

Year: 2024

Type: article

Abstract: Hermansky-Pudlak syndrome is a heterogeneous group of rare, autosomally recessively inherited disorders that are expressed with oculocutaneous albinism, hemorrhagic diathesis and systemic manifestations due to the accumulation of lysosomal ceroid material. Its definitive diagnosis is based on clinical characteristics and decrease in dense platelet granules observed by transmission electron microscopy. Currently there is no definitive treatment and it is based on multidisciplinary management of its complications. We present the clinical case of a patient with confirmed diagnosis of Hermansky-Pudlak syndrome, an entity little documented in the literature.

Source: Revista Medicina Cutánea Ibero-Latino-Americana

DOI: 10.24875/mcute.m24000026

Authors: Virginia D. Dimotta, M. Eugenia Amoreo, M. Clara Mancinelli, Lucía M. Córdoba, M. Alejandra Verea

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403726749

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