Arthrogryposis–renal dysfunction–cholestasis syndrome
| Arthrogryposis–renal dysfunction–cholestasis syndrome | |
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| Other names: ARC syndrome[1] | |
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| 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). | |
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| Specialty | Dermatology |
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
- ↑ 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.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
External links
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