| H01906 | |
| H number | H01906 |
| Name | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis |
| Description | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contractures especially involve the ankles and feet and cause gait disturbance. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract. |
| Category | Congenital malformation |
| Network | - |
| Gene | FAM111B [HSA:374393] [KO:K24275] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC10 ICD-10: L81.6 OMIM: 615704 |
| Reference | PMID:27748098 AUTHORS Mercier S, Kury S, Barbarot S TITLE Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis JOURNAL GeneReviews (1993) PMID:24268661 AUTHORS Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM TITLE Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. JOURNAL Am J Hum Genet 93:1100-7 (2013) DOI:10.1016/j.ajhg.2013.10.013 |