Keratitis-Ichthyosis-Numbness Syndrome

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Classification according to ICD-10
Q80.8 Other congenital ichthyosis
H90.5 Hearing loss due to sensorineural disorders, unspecified
ICD-10 online (WHO version 2019)

The keratitis-ichthyosis deafness syndrome with the main criteria of keratinizing skin redness ( erythrokeratoderma ), inner ear hearing loss and a scarring corneal inflammation (vascularizing keratitis ), is a rare genetic disease that can be counted as ichthyosis hystrix .

Synonyms are: Ichthyosis hystrix Rheydt; Erythrokeratodermia Progressive Burns; Ichthyosis hystrix gravior, Rheydt type; Keratitis ichthyosis deafness syndrome; Keratitis-Ichthyosis-Deafness / Hystrix-like Ichthyosis-Deafness; KID / HID syndrome; Senter Syndrome; English keratitis-ichthyosis-deafness syndrome; KID syndrome KID

The first description was made in 1915 by the American dermatologist Frederick S. Burns.

Cause and mode of inheritance

Mutations in the genes GJB2-GJB6 on the long arm of chromosome 13 (13q11-q12) were found to be the cause of the disease . Both an autosomal - dominant and autosomal recessive inheritance is described, in many cases a new mutation is based.

Symptoms

At corneal changes occur corneal opacity linked up with photophobia and impaired vision. Possible changes to the skin are cornification disorders , hives , reddening of the skin , rashes, thin or missing eyebrows and eyelashes, thinning, fine hair up to balding, thickened or hypoplastic fingernails and toenails, decreased sweating . In addition, abnormalities of the lining of the tongue , gums, and oral mucosa can occur.

The changes in the central nervous system can consist of agenesis or hypoplasia of the cerebellum with absent or reduced reflexes and hemiplegia as well as inner ear hearing loss .

Other possible changes are testicular ectopia or cryptorchidism , megacolon ( Hirschsprung's disease ) and short stature.

Differential diagnosis

The following are to be distinguished:

Individual evidence

  1. ↑ Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 400
  2. ↑ Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 865
  3. ↑ a b KID syndrome. In: Orphanet (Rare Disease Database).
  4. ^ FS Burns: A case of generalized congenital keeratoderma. In: Journal of Cutaneous Diseases , Vol. 33, 1915, pp. 255-260.
  5. ↑ Keratitis-Ichthyosis-Deafness Syndrome.  In: Online Mendelian Inheritance in Man . (English).
  6. ↑ Keratitis-Ichthyosis-Deafness Syndrome.  In: Online Mendelian Inheritance in Man . (English)

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