Schöpf–Schulz–Passarge syndrome

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Schöpf–Schulz–Passarge syndrome
Classification and external resources
Specialty medical genetics
ICD-10 Q82.8
OMIM 224750

Schöpf–Schulz–Passarge syndrome (also known as "Eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis") is an autosomal recessive condition with diffuse symmetric palmoplantar keratoderma, with the palmoplantar keratoderma and fragility of the nails beginning around age 12.[1]:513[2] In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hydrocystomas). Patients may also develop syringofibroadenomas and squamous cell carcinomas.[3]

It was characterized in 1971.[4]

It has been associated with WNT10A.[5]

See also[edit]

References[edit]

  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 778. ISBN 1-4160-2999-0. 
  3. ^ Calonje, Eduardo (2012). Mckee's Pathology of the Skin: With Clinical Correlations. Elsevier/Saunders. 
  4. ^ Schöpf E, Schulz HJ, Passarge E (June 1971). "Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait". Birth Defects Orig. Artic. Ser. 7 (8): 219–21. PMID 4281327. 
  5. ^ Bohring A, Stamm T, Spaich C, et al. (July 2009). "WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes". Am. J. Hum. Genet. 85 (1): 97–105. doi:10.1016/j.ajhg.2009.06.001. PMC 2706962Freely accessible. PMID 19559398.