Keratosis palmoplantaris with mutations in Connexin 26
Last Updated: 2019-08-26
ICD11: -
Last Updated: 2019-08-26
Author(s): Anzengruber F., Navarini A.
ICD11: -
Vohwinkel 1929
Keratosis palmoplantaris mutilans
Keratosis palmoplantaris mutilans Vohwinkel
Keratitis - Ichthyosis - Deafness (KID) - Syndrome
Palmoplantar keratosis caused by a mutation of connexin 26.
Autosomal - dominant mutation in gene GJB2 coding for connexin 26.
Skin:
Ear:
Anamnesis.
Clinic.
Genetic examination.
ENT - medical examination.
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