Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Manuela Loredana AsztalosKristian T SchafernakJayla GrayAdam BerryAmy S PallerAnthony J ManciniPublished in: Pediatric dermatology (2017)
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.
Keyphrases
- pulmonary fibrosis
- deep learning
- machine learning
- induced apoptosis
- genome wide
- case report
- copy number
- clinical practice
- cell cycle arrest
- oxidative stress
- palliative care
- early onset
- intellectual disability
- gene expression
- signaling pathway
- transcription factor
- cell death
- autism spectrum disorder
- high resolution
- pi k akt
- genome wide identification
- clinical evaluation
- genome wide analysis