Schöpf–Schulz–Passarge syndrome
| Schöpf–Schulz–Passarge syndrome | |
|---|---|
| Other names | Eyelid cysts, Palmoplantar keratoderma, Hypodontia, and Hypotrichosis |
| Specialty | Medical genetics  |
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
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ 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.
- ↑ Calonje, Eduardo (2012). Mckee's Pathology of the Skin: With Clinical Correlations. Elsevier/Saunders.
- ↑ 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.
- ↑ 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.
External links
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