Hermansky-Pudlak syndrome: health care throughout life.

[oculocutaneous albinism]

Hermansky-Pudlak syndrome (HPS ) is a rare autosomal recessive disease that displays genetic heterogeneity ; there are 9 known subtypes . HPS is characterized by oculocutaneous albinism , a platelet storage pool deficiency and resultant bleeding diathesis , and lysosomal accumulation of ceroid lipofuscin . Patients with HPS , specifically those with the genotypes HPS -1 , HPS -2 , or HPS -4 , are predisposed to interstitial lung disease . In addition , some patients with HPS develop granulomatous colitis . Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome .

Diseases
Validation

Diseases presenting "colitis" symptom

dracunculiasis

familial mediterranean fever

kindler syndrome

oculocutaneous albinism

omenn syndrome

severe combined immunodeficiency

typhoid

This symptom has already been validated