Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
 | This article includes a list of general references, but it lacks sufficient corresponding inline citations. (June 2019) |
| Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis | |
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| 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.[1] It is also known as POIKTMP syndrome.
Presentation
[edit]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
[edit]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
[edit]This diagnosis is made by sequencing the FAM111B gene.[citation needed]
Differential diagnosis
[edit]Management
[edit]There is presently no curative treatment. Management is supportive.[citation needed]
Epidemiology
[edit]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
[edit]This condition was first described in 2006.[3]
References
[edit]- ^ Mercier S, Küry S, Barbarot S (2016) Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, (editors). GeneReview
- ^ Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C33, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S (2015) Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis 10:135
Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.
- ^ Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM, Bateman ED (2006) Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Br J Dermatol 155(5):1057-1061
