GTR Home > Conditions/Phenotypes > Keratitis-ichthyosis-deafness syndrome, autosomal dominant

Summary

Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be ... life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe. [from GHR] more

Associated genes

  • Also known as: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
    Summary: gap junction protein, beta 2, 26kDa

Clinical features

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  • Corneal scarring
  • Hypohidrosis
  • Recurrent bacterial skin infections
  • Sparse eyelashes
  • Nail dysplasia
  • Furrowed tongue
  • Sensorineural hearing impairment
  • Recurrent corneal erosions
  • Sparse eyebrow
  • Photophobia
  • Blindness
  • Hyperkeratosis
  • Keratoconjunctivitis sicca
  • Trichiasis
  • Pes cavus
  • Oral leukoplakia
  • Squamous cell carcinoma
  • Elbow flexion contracture
  • Knee flexion contracture
  • Ichthyosis
  • Nail dystrophy
  • Abnormality of corneal stroma
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