Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

Hermansky-Pudlak syndrome.

We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon. In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infectio...

Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome.

A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of the triad phenotype of hypopigmentation, p...

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...