词条 | Camisa disease |
释义 |
| name = Camisa disease | synonyms = | image = Autosomal dominant - en.svg | alt = | caption = This condition is inherited in an autosomal dominant manner | pronounce = | field = | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome, characterized by ichthyosis and normal hearing.[1]{{rp|507,513}} It is associated with loricrin.[2][3] It was characterized in 1984[4] and 1988.[5] See also
References1. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 2. ^{{cite journal |vauthors=Matsumoto K, Muto M, Seki S |title=Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby |journal=Br. J. Dermatol. |volume=145 |issue=4 |pages=657–60 |date=October 2001 |pmid=11703298 |doi= 10.1046/j.1365-2133.2001.04412.x|url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=2001&volume=145&issue=4&spage=657|display-authors=etal}}{{dead link|date=February 2019|bot=medic}}{{cbignore|bot=medic}} 3. ^{{cite journal |vauthors=Korge BP, Ishida-Yamamoto A, Pünter C |title=Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis |journal=J. Invest. Dermatol. |volume=109 |issue=4 |pages=604–10 |date=October 1997 |pmid=9326398 |doi= 10.1111/1523-1747.ep12337534|url=|display-authors=etal}} 4. ^{{cite journal |vauthors=Camisa C, Rossana C |title=Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin |journal=Arch Dermatol |volume=120 |issue=10 |pages=1323–8 |date=October 1984 |pmid=6237617 |doi= 10.1001/archderm.120.10.1323|url=http://archderm.ama-assn.org/cgi/pmidlookup?view=long&pmid=6237617}} 5. ^{{cite journal |vauthors=Camisa C, Hessel A, Rossana C, Parks A |title=Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase |journal=Dermatologica |volume=177 |issue=6 |pages=341–7 |year=1988 |pmid=2976687 |doi= 10.1159/000248604|url=}} External links{{Medical resources| DiseasesDB = 33316 | ICD10 = | ICD9 = | ICDO = | OMIM = 604117 | MedlinePlus = | eMedicineSubj = article | eMedicineTopic = 1108458 | MeshID = | GeneReviewsName = | Orphanet = 79395 }}{{Cutaneous-condition-stub}} 1 : Palmoplantar keratodermas |
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