Arthrogryposis–renal dysfunction–cholestasis syndrome

Arthrogryposis–renal dysfunction–cholestasis syndrome
Other names: ARC syndrome[1]
A–D: Person AB. Aged (A) 3 years and (B) 5 years. Hyperkeratosis and lichenification of palm of right hand (C) and sole of left foot (D). E–I: Person CD. Facies aged 3 (E); in plaster after corrective hip surgery (F). Hyperkeratosis, dorsum of right foot (G). Radiographs of right foot showing vertical talus (H) and of pelvis showing hip dislocation (I).
SpecialtyDermatology

Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene.[2] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years.

See also

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome". www.orpha.net. Archived from the original on 30 July 2017. Retrieved 18 May 2019.
  2. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
Classification
External resources


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