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A form of ectodermal dysplasia characterized by
inflammation of the corneae (keratitis), skin scales, and deafness.
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Autosomal Dominant Form: Senter Syndrome; Ichthyosiform Erythroderma with Corneal
Involvement and Deafness. Autosomal Recessive Form: Desmons Syndrome; Desmons-Britton Syndrome.
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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.)
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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.
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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.
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Clinical picture and genetic testing (Cx26 test).
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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.
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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.
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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 ...