| Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis | |
|---|---|
 | |
| ROSAH syndrome is inherited via an autosomal dominant manner | |
| Causes | Mutation in FAM111B gene |
Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis is a rare genetic syndrome characterised by poikiloderma, tendon contractures and progressive pulmonary fibrosis. It is also known as POIKTMP syndrome.
Presentation
The main characteristics of this condition are poikiloderma, tendon contractures and progressive pulmonary fibrosis.
Other features include
Skin
- Facial telangiectasia
- Mottled hypo- and hyperpigmentation
- Papules
- Epidermal atrophy
- Scanty hair
Tendon contractures affecting the
- Digits
- Ankles
Other
- Exocrine pancreatic insufficiency
- Liver impairment
- Growth retardation
Magnetic resonance imaging shows muscle atrophy and fatty infiltration of the muscles. Muscle biopsy shows fibrosis and fatty infiltration. Skin biopsy shows fibrosis and alterations of the elastic network.
Genetics
This condition is caused by mutations in the (FAM111B) gene. This gene is located on the long arm of chromosome 11 (11q12.1).
The inheritance of this condition is autosomal dominant.
Diagnosis
This diagnosis is made by sequencing the FAM111B gene.
Differential diagnosis
Management
There is presently no curative treatment. Management is supportive.
Epidemiology
The prevalence is not known but this is considered to be a rare disease. About fifty cases have bene described in the literature up to 2019.
History
This condition was first described in 2006.
