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A form of ectodermal dysplasia characterized by inflammation of the corneae (keratitis), skin scales, and deafness.

Keratitis ichthyosis deafness (KID) syndrome

Erythermatous skin changes with scaly patches and lichenification in the face of a newborn with keratitis ichtyosis deafness (KID) syndrome.

Keratitis ichthyosis deafness (KID) syndrome

Skin lesions in keratitis ichthyosis deafness (KID) syndrome extend to the rest of the head and lead to alpecia and hyperkeratosis.

Autosomal Dominant Form: Senter Syndrome; Ichthyosiform Erythroderma with Corneal Involvement and Deafness. Autosomal Recessive Form: Desmons Syndrome; Desmons-Britton Syndrome.

Exact incidence of either type unknown. Approximately 70 cases of the autosomal dominant form have been reported. The autosomal-recessive form is less common (approximately 35 cases have been described.)

The dominant form of KID is caused by heterozygous missense mutations in the connexin-26 gene GJB2 (“gap junction beta 2”). A deletion in the GJB6 gene, which is very close to GJB2, can also be responsible for the disorder (especially the recessive form). Sporadic cases are frequent.

Dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, resulting in erythrokeratoderma, sensorineural hearing loss, and keratitis. The GJB2 protein allows the creation of gap junctions between cells. The absence of these channels prevents potassium flux between cells of the inner ear, a process necessary for normal hearing.

Clinical picture and genetic testing (Cx26 test).

Common characteristics of both types of this syndrome include hyperkeratotic skin lesions, congenital sensorineural hearing deficits, and corneal opacity often requiring corneal transplant. The skin lesions start as erythematous, scaly patches on the face, ears, extensor surfaces of the limbs, palms, and soles, which later become brownish-yellow plaques. Ectodermal dysplasia is another major manifestation of KID syndrome. Most patients have partial alopecia, fragile and malformed nails, and small, malformed teeth. The recessive form also presents with hepatic cirrhosis, which may progress to the point of requiring liver transplantation by middle age, short stature, and mental retardation. Epidermal glycogen deposits were present in some patients with the recessive form.

Check mouth opening in the presence of perioral skin lesions. Check liver function in patients affected by the autosomal recessive form and also obtain a complete blood count (thrombocytopenia secondary to hypersplenism). Mental retardation may limit patient cooperation, and sedative/anxiolytic premedication as well as the presence of the primary caregiver for induction of anesthesia may be helpful.

Perioral hyperkeratotic plaques may limit mouth opening, making glottic visualization difficult. Hyperkeratotic, erythematous skin may prevent ECG electrodes or tape from adhering to the skin, thus making the securing of endotracheal tubes and IV catheters difficult. Needle electrodes, sutures, and/or rolls of gauze dressing to secure devices ...

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