词条 | Schöpf–Schulz–Passarge syndrome |
释义 |
| name = Schöpf–Schulz–Passarge syndrome | synonyms = | image = | alt = | caption = | pronounce = | field = | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Schöpf–Schulz–Passarge syndrome (also known as "eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis") is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12.[1]{{rp|513}}[2] In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas). Patients may also develop syringofibroadenoma and squamous cell carcinomas.[3] It was characterized in 1971.[4] It has been associated with WNT10A.[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 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=778 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}} 3. ^{{Cite book|title=Mckee's Pathology of the Skin: With Clinical Correlations|last=Calonje|first=Eduardo|publisher=Elsevier/Saunders|year=2012|isbn=|location=|pages=|via=}} 4. ^{{cite journal |vauthors=Schöpf E, Schulz HJ, Passarge E |title=Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait |journal=Birth Defects Orig. Artic. Ser. |volume=7 |issue=8 |pages=219–21 |date=June 1971 |pmid=4281327 |doi= |url=}} 5. ^{{cite journal |vauthors=Bohring A, Stamm T, Spaich C, etal |title=WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes |journal=Am. J. Hum. Genet. |volume=85 |issue=1 |pages=97–105 |date=July 2009 |pmid=19559398 |pmc=2706962 |doi=10.1016/j.ajhg.2009.06.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00237-7}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|Q|82|8|q|82}} | ICD9 = | ICDO = | OMIM = 224750 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsName = }}{{DEFAULTSORT:Schopf-Schulz-Passarge syndrome}}{{Cutaneous-condition-stub}} 2 : Palmoplantar keratodermas|Syndromes |
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