Skip to Main Content

At a glance

It is a rare disease associated with ectodermal dysplasia characterized by inflammation of the corneae (keratitis), erythrokeratoderma, skin scaling (ichthyosis) especially the palms of the hands and sole of the feet, and sensorineural deafness.

Synonyms

There are two different forms that are associated with different names:

  • Autosomal Dominant Form: Senter Syndrome; Ichthyosiform Erythroderma with Corneal Involvement and Deafness.

  • Autosomal Recessive Form: Desmons Syndrome; Desmons-Britton Syndrome.

Incidence

Exact incidence of either type unknown. Approximately 100 cases of the autosomal dominant form have been reported in the literature. The autosomal recessive form is less common and about 35 cases have been described thus far. Collectively, in general term, ichthyoses affect more than 1,000,000 people in the United States.

Genetic inheritance

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.

Keratitis Ichthyosis Deafness (KID) Syndrome: Erythematous skin changes with scaly patches and lichenification in the face of a newborn with keratitis ichthyosis deafness (KID) Syndrome.

Pathophysiology

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.

Diagnosis

Clinical presentation and genetic connexin-26 testing (C-26 laboratory test).

Clinical aspects

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.

Precautions before anesthesia

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 ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.