Contributors: Lee T. Du,, Michael P. Vrabec, and George J. Florakis.
The KID (Keratitis, Ichthyosis, Deafness) syndrome (keratitis-ichthyosis-deafness syndrome) is a congenital syndrome of ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium and the inner ear. The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous feature and not all patients have keratitis early in the course. Hence, the authors suggest that this syndrome should be included under the general heading of congenital ectodermal defects as a keratodermatous ectodermal dysplasia.
Most cases have an autosomal dominant mode of inheritance and are due to mutations in the GJB2 gene. All have cutaneous and auditory abnormalities, and 95% also have ophthalmologic defects. The most frequent clinical features are neurosensory deafness 90%, erythrokeratoderma 89%, vascularizing keratitis [keratitis - vascularizing] 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%. All of these findings constitute the major criteria for the diagnosis. Gender distribution approximately equal.
Other features include pannus formation and hypotrichosis. Symptoms develop during childhood or early adolescence, and are usually progressive. Patients initially present photophobia, repeated episodes of conjunctivitis, corneal abrasions, different degrees of keratitis, and corneal opacity. Typical vascularizing keratitis develop later, leading to severe visual loss.
Systemic retinoids have been used in severely affected patients with controversial results. Oral isotretinoin was reported to be associated with an exacerbation of corneal vascularization [neovascularization - cornea].