Keratosis palmoplantaris with mutations in connexin 26
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: -
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: -
Vohwinkel 1929
Keratosis palmoplantaris mutilans
Keratosis palmoplantaris mutilans Vohwinkel
Keratitis – Ichthyosis – Deafness (KID) – Syndrome
Palmoplantar keratosis, which is caused by a mutation of connexin 26.
Autosomal – dominant mutation in the gene GJB2, which codes for connexin 26.
Skin:
Ear:
Anamnesis.
Clinical.
Genetic examination.
HNO – medical examination.
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