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.
The main characteristics of this condition are poikiloderma, tendon contractures and progressive pulmonary fibrosis.
Other features include
Skin
Tendon contractures affecting the
Other
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.
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.
This diagnosis is made by sequencing the FAM111B gene.
There is presently no curative treatment. Management is supportive.
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.
This condition was first described in 2006.