Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis is a rare genetic syndrome characterised by poikiloderma, tendon contractures and progressive pulmonary fibrosis.^[1] It is also known as POIKTMP syndrome.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis
ROSAH syndrome is inherited via an autosomal dominant manner
Causes	Mutation in FAM111B gene

Presentation

The main characteristics of this condition are poikiloderma, tendon contractures and progressive pulmonary fibrosis.

Other features include^[2]

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).^{[citation needed]}

The inheritance of this condition is autosomal dominant.^{[citation needed]}

Diagnosis

This diagnosis is made by sequencing the FAM111B gene.^{[citation needed]}

Differential diagnosis

• Poikiloderma of Weary

Management

There is presently no curative treatment. Management is supportive.^{[citation needed]}

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.^{[citation needed]}

History

This condition was first described in 2006.^[3]