Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.
Cases of Hermansky-Pudlak syndrome may present to the dermatologist, ophthalmologist or haematologist. Classically the diagnosis rests on the triad of oculocutaneous albinism, a bruising tendency and the presence of characteristic pigmented-containing cells in the bone marrow. Specific tests of platelet function can, however, suggest the diagnosis without recourse to invasive techniques. We describe the disease in two young sisters.
Ellis
J P
JP
Princess Margaret Hospital, Swindon, Wilts, UK.
Gray
A
A
Richards
F
F
D000244:Adenosine Diphosphate / Q000097:blood; D000255:Adenosine Triphosphate / Q000097:blood; D016115:Albinism, Oculocutaneous / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001792:Blood Platelets / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D003288:Contusions / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D010974:Platelet Aggregation
D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate