Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context

Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

A 45-year-old woman from Puerto Rico presented to the emergency department with progressively worsening dyspnea over a 3to 4-day period. She had been diagnosed with type 1 Hermansky-Pudlak syndrome complicated by pulmonary fi brosis 4 years earlier. Previous renal biopsy demonstrated nephrosclerosis secondary to HermanskyPudlak syndrome. A brother also had Hermansky-Pudlak syndrome complicated ...

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

Inherited platelet function disorders (IPFDs) encompass a heterogeneous group of haemorrhagic diseases caused by congenital defects of platelets function affecting various elements of the platelet physiology (membrane receptors, intraplatelet signalling proteins, granules), and leading to different clinical manifestations (1–3). Platelets have three types of secretory granules that differ in th...