Abstract
BackgroundHermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.MethodsSix children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded.ResultsPulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia.ConclusionsHPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.
Highlights
Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes
The syndrome is characterized by oculocutaneous albinism, a bleeding diathesis due to platelet storage deficiency [1, 2], and other manifestations which may include neutropenia, a granulomatous colitis, or pulmonary fibrosis
Honeycombing and cysts were newly detectable in 3 patients after an observation time of 5.2 years
Summary
Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. Hermansky Pudlak syndrome is a rare hereditary multisystem disorder first described in 1959. The syndrome is characterized by oculocutaneous albinism, a bleeding diathesis due to platelet storage deficiency [1, 2], and other manifestations which may include neutropenia, a granulomatous colitis, or pulmonary fibrosis. HPS-1 is the most common subtype and characteristically develops a severe and progressive pulmonary fibrosis in almost all cases. Middle-aged adults and rarely late adolescents are affected by fibrosis; so far, children are not described [2,3,4]. HPS-4 has been documented in less than 10 patients, few of which had pulmonary fibrosis [5, 6]
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