| 词条 | Juvenile hyaline fibromatosis |
| 释义 |
| name = Juvenile hyaline fibromatosis | synonyms = | image = Autosomal recessive - en.svg | alt = | caption = Autosomal recessive pattern is the inheritance manner of this condition | pronounce = | field = dermatology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"[1] "Murray–Puretic–Drescher syndrome"[1]) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from early childhood to adulthood, and presents as slow-growing, pearly white or skin-colored dermal or subcutaneous papules or nodules on the face, scalp, and back, which may be confused clinically with neurofibromatosis.[2] PresentationThis condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement. Clinical features include extreme pain at minimal handling in a newborn, gingival hypertrophy, subcutaneous nodules, painful joint stiffness and contractures, muscle weakness and hypotonia. GeneticsThis condition is due to mutations in the anthrax toxin receptor-2 (ANTXR2) gene. This gene is also known as capillary morphogenesis protein-2. This gene is located on the long arm of chromosome 4 (4q21.21). ManagementThere is no presently known curative treatment for this condition.{{citation needed|date=November 2018}} Management is supportive PrognosisThis is very poor with a median age at death of 15 months. Epidemiology84 cases have been reported as of 2018.[3] See also
References1. ^1 {{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}} 2. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. {{ISBN|0-07-138076-0}}. 3. ^Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A (2018) Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Hum Mutat doi: 10.1002/humu.23638 External links{{Medical resources| ICD10 = M72.8 | ICD9 = | ICDO = | OMIM = 228600 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = D057770 | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 2028 }}{{Dermal-growth-stub}} 1 : Dermal and subcutaneous growths |
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