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Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Loredana Asztalos, Manuela; Schafernak, Kristian T; Gray, Jayla; Berry, Adam; Paller, Amy S; Mancini, Anthony J.
Afiliação
  • Loredana Asztalos M; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Schafernak KT; Department of Pediatrics, Pathology and Laboratory Medicine , Northwestern University, Chicago, IL, USA.
  • Gray J; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
  • Berry A; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Paller AS; Department of Pediatrics, Pathology and Laboratory Medicine , Northwestern University, Chicago, IL, USA.
  • Mancini AJ; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Pediatr Dermatol ; 34(6): 638-646, 2017 Nov.
Article em En | MEDLINE | ID: mdl-29044644
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluation and follow-up.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Hermanski-Pudlak / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Hermanski-Pudlak / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article