| 词条 | Erythrokeratodermia variabilis |
| 释义 |
| synonyms = Progressive symmetric erythrokeratodermia, Gottron type | name = Erythrokeratodermia variabilis | image = Autosomal dominant - en.svg | alt = Erythrokeratodermia variabilis is inherited in an autosomal dominant manner(rarely autosomal recessive)[1] | caption = Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance | pronounce = | field = | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",[2]{{rp|509}} "Mendes da Costa syndrome",[3] "Mendes da Costa type erythrokeratodermia", and "progressive symmetric erythrokeratoderma") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life.[4] To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes.[5] One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.[2][6]{{rp|565}} It can be associated with GJB3[7] and GJB4.[8] It was characterized in 1925.[9] See also
References1. ^{{cite web|title=OMIM Entry - # 133200 - ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1|url=https://omim.org/entry/133200|website=omim.org|accessdate=3 September 2017|language=en-us}} {{Medical resources2. ^1 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 3. ^{{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=}} 4. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 497. McGraw-Hill. {{ISBN|0-07-138076-0}}. 5. ^Richard, Gabriela. (2000). Exp Dermatol. Page 77-96. ISSN 0906-6705. 6. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 7. ^{{cite journal |vauthors=Richard G, Smith LE, Bailey RA, etal |title=Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis |journal=Nat. Genet. |volume=20 |issue=4 |pages=366–9 |date=December 1998 |pmid= 9843209| doi=10.1038/3840}} 8. ^{{cite journal |vauthors=Macari F, Landau M, Cousin P, etal |title=Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis |journal=Am. J. Hum. Genet. |volume=67 |issue=5 |pages=1296–301 |date=November 2000 |pmid=11017804 |pmc=1288569 |doi=10.1016/S0002-9297(07)62957-7 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62957-7}} 9. ^Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925. | DiseasesDB = | ICD10 = Q82.8 | ICD9 = | ICDO = | OMIM = 133200 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsName = | Orphanet = 316 }}{{Channelopathy}}{{genetic-disorder-stub}} 3 : Genodermatoses|Palmoplantar keratodermas|Rare diseases |
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