Literature DB >> 7636828

Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

J P Ellis1, A Gray, F Richards.   

Abstract

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.

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Year:  1995        PMID： 7636828      PMCID： PMC1295210     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


  5 in total

1.  Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.

Authors:  F HERMANSKY; P PUDLAK
Journal:  Blood       Date:  1959-02       Impact factor: 22.113

2.  The platelet defect associated with albumism.

Authors:  R M Hardisty; D C Mills; K Ketsa-Ard
Journal:  Br J Haematol       Date:  1972-12       Impact factor: 6.998

3.  Studies of platelets in a variant of the Hermansky-Pudlak syndrome.

Authors:  J G White; J R Edson; S J Desnick; C J Witkop
Journal:  Am J Pathol       Date:  1971-05       Impact factor: 4.307

4.  A familialdefect in platelet function associated with imapired release of adenosine diphosphate.

Authors:  H J Weiss; P A Chervenick; R Zalusky; A Factor
Journal:  N Engl J Med       Date:  1969-12-04       Impact factor: 91.245

5.  Identification of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky-Pudlak syndrome.

Authors:  J M Gerrard; D Lint; P J Sims; T Wiedmer; R D Fugate; E McMillan; C Robertson; S J Israels
Journal:  Blood       Date:  1991-01-01       Impact factor: 22.113
  5 in total
  1 in total

1.  Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Authors:  J Oh; L Ho; S Ala-Mello; D Amato; L Armstrong; S Bellucci; G Carakushansky; J P Ellis; C T Fong; J S Green; E Heon; E Legius; A V Levin; H K Nieuwenhuis; A Pinckers; N Tamura; M L Whiteford; H Yamasaki; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025
  1 in total

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