Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Meike HengstLutz NaehrlichPoornima MahavadiJoerg Grosse-OnnebrinkSuzanne Terheggen-LagroLars Høsøien SkankeLuise A SchuchFrank BraschAndreas GuentherSimone ReuJulia Ley-ZaporozhanMatthias Griese

Published in: Orphanet journal of rare diseases (2018)

HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.

Keyphrases

interstitial lung disease
systemic sclerosis
rheumatoid arthritis
idiopathic pulmonary fibrosis
case report
early life
childhood cancer
young adults