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Inheritance

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Medical Information

KID Syndrome

Background and History

Skin disease, eye disease and deafness are the hallmarks of this rare inherited disorder.  The KID acronym is based on the three major manifestations: Keratitis, Ichthyosis, and Deafness.  It is uncertain whether KID syndrome is a single disorder or perhaps represents a collection of several diseases.

Clinical Correlations

The skin often has patchy areas of redness and scaling, especially pronounced in the neck, groin, and in the armpits (axillae).  It is usually more diffuse at birth.  Cancers of the skin, mouth and scalp have been reported.  The deafness is of the neurosensory type and may be profound.

Some patients may develop severe liver disease as middle aged adults but it is uncertain if this occurs in everyone.  The liver may become enlarged and scarred.  Short stature and mental retardation have been reported in rare individuals.

The surface of the cornea (window of the eye) is normally covered by several layers of epithelial cells.  In the KID syndrome, these are defective and may erode repeatedly causing severe pain, light sensitivity, and profuse tearing.  This results in inflammation with dense scarring which eventually reduces vision.

Genetics

A gene mutation in single dose has been identified in several families, in which the disorder is passed directly from parent to child with a 50% probability, suggesting autosomal dominant inheritance.  However, many other individuals do not have a family history of it.  In still other families there is consanguinity among the parents and the pattern suggests autosomal recessive inheritance but no mutation has been found in these.

Diagnosis and Prognosis

The diagnosis is based on the physical findings and may require a dermatologist, an ophthalmologist and a pediatrician.  The natural history has not been fully delineated but at least some patients live to middle age.  Lifelong surveillance is necessary because of the risk of liver disease and skin cancer.

Many of the symptoms of the corneal erosions can be relieved with moisturizing eye drops.  However, the scarring is not always preventable and corneal transplantation might be necessary.