Camisa disease

Camisa disease
This condition is inherited in an autosomal dominant manner

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

  1. ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.


Classification
External resources


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