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

Virginia D. Dimotta, Servicio de Dermatología, Hospital Interzonal Especializado en Agudos y Crónicos San Juan de Dios de La Plata, La Plata, Argentina
M. Eugenia Amoreo, Servicio de Dermatología, Hospital Interzonal Especializado en Agudos y Crónicos San Juan de Dios de La Plata, La Plata, Argentina
M. Clara Mancinelli, Servicio de Dermatología, Hospital Interzonal Especializado en Agudos y Crónicos San Juan de Dios de La Plata, La Plata, Argentina
Lucía M. Córdoba, Servicio de Dermatología, Hospital Interzonal Especializado en Agudos y Crónicos San Juan de Dios de La Plata, La Plata, Argentina
M. Alejandra Verea, Servicio de Dermatología, Hospital Interzonal Especializado en Agudos y Crónicos San Juan de Dios de La Plata, La Plata, Argentina

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.

Keywords: Hermansky-Pudlak syndrome. Oculocutaneous albinism. Bleeding diathesis.