GTR Home > Conditions/Phenotypes > Hermansky-Pudlak syndrome

Disease characteristics

Excerpted from the GeneReview: Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis or granulomatous colitis. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals.

Available tests

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Clinical features

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  • Freckling
  • Gingival bleeding
  • Prolonged bleeding time
  • Abnormality of the hair
  • Freckles in sun-exposed areas
  • Nystagmus
  • Epistaxis
  • Renal insufficiency
  • Bruising susceptibility
  • Melanocytic nevus
  • Albinism
  • Ocular albinism
  • Severe visual impairment
  • Cardiomyopathy
  • Abdominal pain
  • Inflammation of the large intestine
  • Restrictive lung disease
  • Pulmonary fibrosis
  • Hematochezia
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