Keratitis–ichthyosis–deafness syndrome

Autosomal dominant - en

Keratitis–ichthyosis–deafness syndrome (KID syndrome) is a rare genetic disorder characterized by the triad of keratitis, ichthyosis, and deafness. It is typically inherited in an autosomal dominant manner and is caused by mutations in the GJB2 gene, which encodes the protein connexin 26.

Clinical Features

Individuals with KID syndrome present with a combination of the following symptoms:

• **Keratitis**: Inflammation of the cornea leading to photophobia, corneal opacities, and potential vision loss.
• **Ichthyosis**: Thickened, scaly skin that may be present at birth or develop in early childhood. The skin changes are often most prominent on the face, scalp, and extremities.
• **Deafness**: Sensorineural hearing loss that is typically present from birth.

Genetics

KID syndrome is caused by mutations in the GJB2 gene, which is located on chromosome 13q11-q12. The GJB2 gene encodes the protein connexin 26, which is involved in the formation of gap junctions that facilitate cell-to-cell communication. Mutations in this gene disrupt normal cellular communication, leading to the clinical manifestations of the syndrome.

Diagnosis

The diagnosis of KID syndrome is based on clinical findings and can be confirmed by genetic testing to identify mutations in the GJB2 gene. Ophthalmologic and audiologic evaluations are essential for assessing the extent of keratitis and hearing loss, respectively.

Management

Management of KID syndrome is multidisciplinary and may include:

• **Ophthalmologic care**: Regular monitoring and treatment of keratitis to prevent vision loss.
• **Dermatologic care**: Use of emollients and keratolytic agents to manage ichthyosis.
• **Audiologic care**: Hearing aids or cochlear implants to address hearing loss.
• **Genetic counseling**: For affected individuals and their families to understand the inheritance pattern and implications.

Prognosis

The prognosis for individuals with KID syndrome varies depending on the severity of the symptoms. Early diagnosis and appropriate management can improve the quality of life for affected individuals.

Related Pages

• Keratitis
• Ichthyosis
• Deafness
• GJB2
• Connexin 26
• Autosomal dominant