Skip to Main Content

++

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

++ ++ ++
Keratitis ichthyosis deafness (KID) syndrome
Graphic Jump Location

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
Graphic Jump Location

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 ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

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