Hermansky-Pudlak-Syndrom
Metabolic and
storage lung diseases: spectrum of imaging appearances. A 53-year-old man with Hermansky-Pudlak syndrome. a, b HRCT images show reticulation (arrowheads) and traction bronchiectasis (arrows) on a background of diffuse ground-glass opacity
Hermansky-Pudlak
syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report. a Chest X-ray at the first visit of the patient to our hospital. Chest high-resolution computed tomography (HRCT) findings in the b upper and c lower lung fields at the first visit to our hospital. d Chest X-ray 2 years after the first visit to our hospital. Chest HRCT findings in the e upper and f lower lung fields 2 years after the first visit to our hospital
Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:
- oculocutaneous hypopigmentation (albinism)
- platelet dysfunction
- abnormal storage of autofluorescent pigment (ceroid or lipofuscin)
- typically occurs within lysosomal organelles of the cells of multiple organs and the reticuloendothelial system
Epidemiology
There is a recognized regional predilection with increased incidence around the Swiss alps region and in Puerto Rico .
Pathology
Genetics
The condition is a genetically transmitted autosomal recessive disorder. At least six distinct genetic forms (HPS1 through HPS6) have been identified resulting in somewhat different clinical manifestations.
Complications
- pulmonary fibrosis
- considered a frequent complication
- incidence and severity of fibrosis is greatest in patients with HPS1 and HPS4
- slowly progressive lung fibrosis occurs in individuals aged 20-40 years
- granulomatous colitis
- patients with HPS can occasionally develop granulomatous colitis similar to Crohn disease
- believed to be a result of an accumulation of ceroid or lipofuscin in the bowel wall
- small bowel involvement is only rarely involved
History and etymology
It was initially described by F Hermansky and P Pudlak in 1959 .
See also
- Chédiak-Higashi syndrome, similar syndrome but has:
- recurrent childhood infection
- peripheral and central neuropathy
- accelerated phase
Siehe auch:
Assoziationen und Differentialdiagnosen zu Hermansky-Pudlak-Syndrom:
