Camisa disease
| Camisa disease | |
|---|---|
| Classification and external resources | |
| OMIM | 604117 |
| DiseasesDB | 33316 |
| eMedicine | article/1108458 |
Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome, characterized by ichthyosis and normal hearing.[1]:507,513
It is associated with loricrin.[2][3]
It was characterized in 1984[4] and 1988.[5]
See also
References
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ Matsumoto K, Muto M, Seki S, et al. (October 2001). "Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby". Br. J. Dermatol. 145 (4): 657–60. doi:10.1046/j.1365-2133.2001.04412.x. PMID 11703298.
- ↑ Korge BP, Ishida-Yamamoto A, Pünter C, et al. (October 1997). "Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis". J. Invest. Dermatol. 109 (4): 604–10. doi:10.1111/1523-1747.ep12337534. PMID 9326398.
- ↑ Camisa C, Rossana C (October 1984). "Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin". Arch Dermatol. 120 (10): 1323–8. doi:10.1001/archderm.120.10.1323. PMID 6237617.
- ↑ Camisa C, Hessel A, Rossana C, Parks A (1988). "Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase". Dermatologica. 177 (6): 341–7. doi:10.1159/000248604. PMID 2976687.
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