| H01906 | |
| H番号 | H01906 |
| 名称 | 腱性拘縮・ミオパチー・肺線維症を伴う遺伝性線維化多形皮膚萎縮症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FAM111B [HSA:374393] [KO:K24275] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC10 ICD-10: L81.6 OMIM: 615704 |
| 文献 | PMID:27748098 著者 Mercier S, Kury S, Barbarot S タイトル Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 雑誌 GeneReviews (1993) PMID:24268661 著者 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 タイトル Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. 雑誌 Am J Hum Genet 93:1100-7 (2013) DOI:10.1016/j.ajhg.2013.10.013 |