Schöpf–Schulz–Passarge syndrome

Schöpf–Schulz–Passarge syndrome
Other namesEyelid cysts, Palmoplantar keratoderma, Hypodontia, and Hypotrichosis
SpecialtyMedical genetics 
Edit this on Wikidata

Schöpf–Schulz–Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the 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 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

References

  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 978-1-4160-2999-1.
  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 2706962. PMID 19559398.


This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.