Keratosis palmoplantaris with mutations in connexin 26Q87.8
Synonym(s)
HistoryThis section has been translated automatically.
Burns, 1915; the term KID was coined by Skinner in 1981.
DefinitionThis section has been translated automatically.
Very rare autosomal dominant genodermatosis characterized by connatal keratitis, connatal erythrodermic ichthyosis with verrucous hyperkeratosis, and sensorineural hearing loss.
Recent studies demonstrate the genetic identity of keratitis-ichthyosis-deafness syndrome (KID) and hystrix-like-ichthyosis-deafness syndrome (HID).
Occurrence/EpidemiologyThis section has been translated automatically.
Very rare, about 100 cases have been described in the literature. There is both an autosomal dominant and recessive form. However, most cases occur sporadically.
EtiopathogenesisThis section has been translated automatically.
In most diseases, a new mutation is present in the GJB2 gene, which is located on chromosome 13q11-q12. This gene encodes connexin 26. In individual cases, a mutation in the 30/GJB6 mutation can also be detected.
Connexins are responsible for cell-cell channels(gap junctions). If the gap junctions are defective, the regulation of cell growth and cell differentiation is disturbed. This leads to a reduced immune defence and an increased carcinogenic potential.
Clinical featuresThis section has been translated automatically.
Congenital or acquired erythrokeratoderma, which in the face and extremities changes into flat, sharply defined, partly psoriasiform, partly verrucous brown-reddish plaques. A delicate ichthyosiform scaling is usually found on the trunk. Palmoplantar keratoses are also regularly observed.
Furthermore: lack or absence of body hair, nail dystrophies and incomplete tooth anomalies.
Other criteria of the disease are neurosensory hearing loss and vascularizing keratitis which can lead to blindness. Photophobia, blepharoconjunctivitis and corneal ulcerations can also occur.
There is an increased tendency to infections (bacterial and mycotic infections).
Squamous cell carcinoma has been described as a long-term complication (11% of patients).
Differential diagnosisThis section has been translated automatically.
Other cornification anomalies. Dermatologically and clinically,"Ichthyosis follicularis with alopecia and photophobia" (IFAP) is a possible treatment (no numbness, no palmoplantar keratoses).
TherapyThis section has been translated automatically.
Interdisciplinary approach. Symptomatic therapy is in the foreground. An experiment with acitretin in a medium dosage may have a beneficial effect on the skin changes. S.u. Ichthyosis vulgaris, autosomal dominant. Topical retinoids and kertolytics show only moderate success.
LiteratureThis section has been translated automatically.
- Burns FS (1915) A case of generalzied congenital keratoderma with unusual involvement of the eyes, ears, and nasal buccal mucous membranes. J Cutan Dis 33: 255
- Janecke AR et al (2005) GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A 133A: 128-131
- Langer K et al (1990) Keratitis, ichthyosis and deafness (KID) syndromes: report of three cases and a review of the literature. Br J Dermatol 122: 689-697
- Messmer EM et al (2005) Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 112: e1-e6
- Reinholz M et al.(2016) A case ofcutaneous vegetating candidiasis in a patient with keratitis-Ichthyosis-Deafness Syndrome. J Eur Acad Dermatol Venereol 30:537-539.
- Sahoo B et al (2002) KID syndrome: response to acitretin. J Dermatol 29: 499-502
- Skinner BA et al (1981) The keratitis, ichthyosis and deafness (KID) syndrome. Arch Dermatol 117: 285-289
- Yamashita C et al(2016) Keratitis-ichthyosis-deafness syndrome with recurrent pneumonia but no mucocutaneous infection. J Dermatol 43:1386-1387.