Acrokeratosis verruciformis
| Acrokeratosis verruciformis | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q82.8 |
| OMIM | 101900 |
| DiseasesDB | 3467 |
| eMedicine | article/1055892 |
| MeSH | D007644 |
Acrokeratosis verruciformis (also known as "Acrokeratosis verruciformis of Hopf"[1] is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits.[2][3] However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene.[4] however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.[5]
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Dhitavat J, Macfarlane S, Dode L, et al. (February 2003). "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease". J. Invest. Dermatol. 120 (2): 229–32. doi:10.1046/j.1523-1747.2003.t01-1-12045.x. PMID 12542527.
- ↑ Gupta, A.; Sharma, Y.K.; Vellarikkal, S.K.; Jayarajan, R.; Dixit, V.; Verma, A.; Sivasubbu, S.; Scaria, V. (January 2015). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis". Journal of the European Academy of Dermatology and Venereology: n/a>n/a. doi:10.1111/jdv.12983.