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Hermansky‐Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings
Author(s) -
Husain Sameera,
Marsh Elizabeth,
SaenzSantamaria M. Carmen,
McNutt N. Scott
Publication year - 1998
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.1998.tb01762.x
Subject(s) - hermansky–pudlak syndrome , pathology , ultrastructure , immunohistochemistry , lipofuscin , von willebrand factor , medicine , biology , platelet , immunology , pulmonary fibrosis , fibrosis
We report a 38‐year‐old female of Puerto Rican descent with Hermansky‐Pudlak syndrome and decreased levels of von Wille‐brand factor. Histologic and ultrastuctural findings of non‐sun‐exposed skin showed melanocytes with short dendritic processes and decreased numbers of melanosomes. Ultrastructutal examination of platelets revealed greatly reduced numbers of delta granules. Recognition of this syndrome is important because skin neoplasms, ceroid deposition and hemorrhagic manifestations can be causes of morbidity and of potential death in patients affected with this syndrome.