Hermansky‐Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations

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...

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Bibliographic Details
Published in:Pediatric dermatology 2017-11, Vol.34 (6), p.638-646
Main Authors: Loredana Asztalos, Manuela, Schafernak, Kristian T., Gray, Jayla, Berry, Adam, Paller, Amy S., Mancini, Anthony J.
Format: Article
Language:English
Subjects:
adaptor protein 3
beta 1 subunit
biogenesis of lysosome‐related organelles complex
Blood Platelets - pathology
chediak‐higashi syndrome
Diagnosis, Differential
dystrobrevin binding protein 1
Fibrosis
griscelli syndrome
Hereditary diseases
Hermanski-Pudlak Syndrome - diagnosis
Hermanski-Pudlak Syndrome - genetics
Hermanski-Pudlak Syndrome - therapy
Hermansky-Pudlak syndrome
Humans
Immunodeficiency
Infant
Lung diseases
Lysosomes
lysosome‐related organelles
Male
Melanosomes
Membrane Proteins - genetics
Mutation
oculocutaneous albinism
platelet dense granules
Pulmonary fibrosis
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13266