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Ichthyosiform erythroderma-deafness-keratitis

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Also listed as: KID syndrome, Keratitis ichthyosis deafness
Related terms
Background
Signs and symptoms
Diagnosis
Complications
Treatment
Integrative therapies
Prevention
Author information
Bibliography
Causes
Risk factors
Types of the disease

Related Terms
  • Connexin 26, connexin 30, corneal transplant, dry eye, dysplastic nails, ectodermal dysplasia, erythrokeratoderma, fish-skin disease, GJB2 gene, ichthyosiform erythroderma corneal involvement and deafness syndrome, ichthyosis, keratectomy, keratitis, keratitis ichthyosis deafness syndrome, KID syndrome, palmoplantar hyperkeratosis, squamous cell carcinoma, tarsorrhaphy.

Background
  • Ichthyosiform erythroderma-deafness-keratitis, also known as keratitis ichthyosis deafness or KID syndrome, is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These genetic disorders can be inherited in an autosomal dominant manner.
  • Symptoms of KID syndrome include problems with the eyes, specifically, gradual destruction of the lens and cornea, possibly leading to blindness; problems with the skin, which becomes red and scaly; and hearing deficits, including deafness or severe hearing loss.
  • Most cases of KID syndrome are caused by a mutation or defect in the GJB2 gene, which provides instructions for making the connexin 26 and connexin 30 proteins. Connexin 30 has been associated with some forms of deafness. Connexin 30 is located in the epidermis, which may explain some of the skin symptoms associated with KID syndrome. The GJB2 gene also encodes for the protein connexin 26, which is associated with disorders of the skin and with deafness.
  • KID syndrome usually occurs as the result of a spontaneous mutation in the egg or sperm cells or in the developing embryo.
  • When it is inherited, or passed down among family members, KID syndrome follows a dominant pattern of inheritance, meaning that only one copy of the defective gene must be inherited for the disease to occur.
  • KID syndrome is extremely rare, with fewer than 100 known cases reported in the scientific literature. Its exact incidence is unknown. There is no cure for KID syndrome. Treatment aims to reduce symptoms and prevent complications.

Signs and symptoms
  • General: Symptoms of ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, include problems with the eyes, specifically, a gradual destruction of the lens and cornea, possibly leading to blindness; problems with the skin, which becomes red and scaly; and hearing deficits, including deafness or severe hearing loss.
  • Eyes: People with KID syndrome tend to have several types of problems with the eyes. Keratitis, or inflammation of the corneas, is the most common eye symptom. Even if treated, this condition can lead to blindness. In addition, the eyes may be dry, and patches of thick skin on the eyelids or around the eyes may be observed.
  • Hair: As in many forms of ectodermal dysplasia, KID syndrome is associated with sparse or absent hair on the scalp. In addition, hair may be sparse or absent on the eyebrows, eyelashes, and other parts of the body.
  • Hearing: Hearing loss associated with KID syndrome can range from mild to severe. This may worsen over time.
  • Nails: The nails on the fingers and toes may be poorly developed, thick, or otherwise abnormal.
  • Skin: One of the most striking features of KID syndrome is the condition of the skin. Ichthyosis is a skin condition that causes severe dryness and the appearance of scales. It is often referred to as "fish-skin" disease. In addition, erythrokeratoderma (thick, rough, reddish patches) and palmoplantar hyperkeratosis (thickening of the skin on the palms of the hands and soles of the feet) may be observed. Thickening of the skin may also occur in the folds of the knees. Additional features may include redness and irritation at the corners of the mouth.

Diagnosis
  • General: Diagnosis of ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, is generally made after observation of the physical characteristics of the skin and eyes. In addition, a complete physical and thorough family history should be completed.
  • Audiogram: A hearing test, also known as an audiogram, may help diagnose hearing loss. During an audiogram, the patient wears headphones and is exposed to various sounds of varying pitches and frequencies. The patient is asked to indicate each time a sound is heard. The audiologist may also say various words aloud to evaluate the patient's hearing ability.
  • Biopsy: In a biopsy, a small sample of tissue is taken for analysis in a lab. To confirm a diagnosis of KID syndrome, a skin biopsy may be taken. A clinician will examine the sample for the characteristic conditions associated with the disorder, including the red, scaly patches that may occur.
  • Eye exam: An eye exam may be performed to assess the health of the eye. Using an ophthalmoscope, which is a microscope tailored to examine the eyes, an ophthalmologist can view the surface and inside of the eyes. The lens and cornea of individuals with KID syndrome may deteriorate, leading to blindness.
  • Genetic testing: If KID syndrome is suspected, a cytogenetic test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the GJB2 gene. If this defect is detected, a positive diagnosis is made.
  • Prenatal DNA testing: If there is a family history of KID syndrome, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can be used to diagnose KID syndrome. However, because there are serious risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional.
  • During amniocentesis, a long, thin needle is inserted through the abdominal wall and into the uterus. A small amount of amniotic fluid is removed from the sac surrounding the fetus. Cells in the fluid are then analyzed for normal and abnormal chromosomes. This test is performed after 15 weeks of pregnancy. The risk of miscarriage is about one in 200-400 patients. Some patients may experience minor complications, such as cramping, leaking fluid, or irritation where the needle was inserted.
  • During chorionic villus sampling (CVS), a small piece of tissue (chorionic villi) is removed from the placenta between the ninth and 14th weeks of pregnancy. CVS may be performed through the cervix or through the abdomen. The cells in the tissue sample are then analyzed for the mutation in the GJB2 gene. Miscarriage occurs in about 0.5-1% of women who undergo this procedure.

Complications
  • Blood infections: Blood conditions associated with ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, may cause the patient to be prone to infection by bacteria, viruses, and fungi.
  • Hearing loss: People who have KID syndrome tend to have hearing loss that ranges from mild to severe and worsens over time. However, deafness has also been reported to be present at birth.
  • Skin infections: Skin conditions associated with KID syndrome may cause the patient to be prone to infection by bacteria, viruses, and fungi.
  • Squamous cell carcinoma: People who have KID syndrome are at increased risk of developing squamous cell carcinoma, a type of skin cancer that develops on the outer layer of skin and may spread to other areas of the body.
  • Vision loss: Depending on the severity of defects in the corneas, people with KID syndrome may experience a range of vision loss from mild decreases in visual acuity, or sharpness, to total blindness.

Treatment
  • General: There is no cure for ichthyosiform erythroderma-deafness-keratitis, or KID syndrome. Instead, treatment aims to reduce symptoms and prevent or treat complications.
  • Antibiotics: People with KID syndrome may develop recurrent infections from skin conditions associated with the disorder. Antibiotics taken by mouth or applied to the skin may be prescribed to fight these infections.
  • Artificial tears: Patients who experience dry eye can rehydrate the eyes with artificial tears. These help lubricate and moisturize the surface and the lining of the eye and are available without a prescription.
  • Cancer treatment: If not detected and treated early, squamous cell carcinoma can be very difficult to treat. Treatment is chosen based on the location, type, and size of the cancer, as well as the wishes of the patient and clinician. In many cases, skin cancer can be removed in the doctor's office under local anesthesia. If the cancer is more extensive, it may require radiation therapy.
  • Drugs: Over-the-counter and prescription drugs may also be used to treat the skin conditions of ichthyosis, specifically the red, scaly skin and palmoplantar hyperkeratosis, which is the thickening of the skin on the palms of the hands and soles of the feet. Skin softeners such as petroleum or mineral oil and retinoids, derivatives of vitamin A, may improve the appearance and texture of skin. The use of oral retinoids requires regular blood tests to monitor liver function. In addition, women who are pregnant or planning to become pregnant should not use retinoids, because of a risk of birth defects.
  • Eye surgery: Different types of eye surgery may be required if damage to the eyes is severe. Potential procedures may include keratectomies, in which keratotic lesions, or calluses that develop as a result of friction, are removed from the surface of the eye; tarsorrhaphy, in which parts of the eyelids are sewn together to narrow the opening of the eye; and corneal transplantation, in which a cornea from a donor replaces the damaged cornea of the patient. As with all organ transplants, corneal transplant is associated with a risk of rejection. Immune-suppressing drugs are therefore given to the patient to decrease this risk.
  • Hearing aids: Patients with KID syndrome who experience hearing loss may benefit from hearing aids. These battery-operated devices are available in three basic styles: behind the ear, in the ear, and inside the canal. Patients should talk to their healthcare provider to determine the type of hearing aid that is best for them. A behind-the-ear device is used for mild-to-profound hearing loss. The device is worn behind the ear and is attached to a plastic ear mold inside the outer ear. In-the-ear hearing aids are worn inside the outer ear and are used for mild-to-severe hearing loss. Canal hearing aids are smaller hearing aids that fit inside the patient's ear canal. These are used for mild-to-moderately severe hearing loss.
  • If hearing loss is severe, patients may benefit from cochlear implants. These electronic devices are surgically implanted inside of the ears. Unlike a hearing aid, which amplifies sound, a cochlear implant compensates for damaged parts of the inner ear.
  • Speech-language therapy: Hearing loss in patients with KID syndrome may cause impaired or delayed speech patterns and patients may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
  • Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start off simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
  • On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment be started early to ensure the best possible outcome for the patient.

Integrative therapies
  • Currently there is a lack of scientific evidence on the use of integrative therapies for the treatment or prevention of ichthyosiform erythroderma-deafness-keratitis, or KID syndrome.

Prevention
  • General: Ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, is caused by a genetic mutation or defect, so there are no known ways to prevent this disease.
  • Genetic testing and counseling: Individuals who have KID syndrome may meet with a genetic counselor to discuss the risks of having children with the disease. Genetic counselors can explain the options and the associated risks of various tests, including preimplantation genetic diagnosis (PGD), amniocentesis, and chorionic villus sampling (CVS).
  • Preimplantation genetic diagnosis (PGD) may be used with in vitro (artificial) fertilization. In PGD, embryos are tested for the defective GJB2 gene, and only the embryos that are not affected may be selected for implantation. Because KID syndrome can be detected in a fetus, parents may choose whether to continue the pregnancy. Genetic counselors may assist parents with these difficult decisions.

Author information
  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography
  1. Ahmadi S, McKenna K. Keratitis-ichthyosis-deafness syndrome and carotenaemia. Clin Exp Dermatol. 2003 Jul;28(4):394-6.
  2. Conrado LA, Marques SA, Lastoria JC, et al. Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. Int J Dermatol. 2007 Apr;46(4):403-6.
  3. Ectodermal Dysplasia Society. .
  4. Jonard L, Feldman D, Parsy C, et al. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation. Eur J Med Genet. 2008 Jan-Feb;51(1):35-43.
  5. Landau M, Cohen-Bar-Dayan M, Hohl D, et al. Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol. 2002 Jul-Aug;19(4):285-92.
  6. Messmer EM, Kenyon KR, Rittinger O, et al. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005 Feb;112(2):e1-6.
  7. National Foundation for Ectodermal Dysplasias. .
  8. Natural Standard: The Authority on Integrative Medicine. .
  9. Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002;70: 1341-8.
  10. Van Everdingen JJ, Rampen FH, van der Schaar WW. Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. Acta Derm Venereol. 1982;62(1):76-8.
  11. Van Geel M, van Steensel MA, Kuster W, et al. HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol. 2002 Jun;146(6):938-42.
  12. Watanabe D, Zako M, Tamada Y, et al. A case of keratitis-ishthyosis-deafness (KID) syndrome. Int J Dermatol. 2007 Apr;46(4):400-2.
  13. Rycroft RJ, Moynahan EJ, Well RS. Atypical ichthyosiform erythrodernam deafness and keratitis. A report of two cases. Br J Dermatol. 1976 Feb;94(2):211-7.
  14. Zhang X, He Y, Zhou H, et al. Severe ichthyosis-related disorders in children: response to acitretin. J Dermatolog Treat. 2007;18(2):118-22.

Causes
  • Random occurrence: Ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, is caused by a mutation in the GJB2 gene, which provides the instructions for making the connexin 30 protein. Connexin 30 has been associated with some forms of deafness. Connexin 30 is located in the epidermis, which may explain some of the skin symptoms associated with KID syndrome. This gene also encodes for the protein connexin 26, which is associated with disorders of the skin and with deafness. Most cases of KID syndrome occur in individuals with no family history of the disorder, usually as the result of a spontaneous mutation in the egg, sperm cells, or developing embryo. Individuals who have KID syndrome may pass on the disorder to their children.
  • Autosomal dominant inheritance: Individuals receive two copies of most genes, one from the mother and one from the father. When KID syndrome is passed down among family members, it follows an autosomal dominant pattern of inheritance, meaning that only one copy of the defective GJB2 gene is necessary for the disease to occur. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.

Risk factors
  • Ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, is caused by a genetic mutation. Most cases of the disease are caused by a spontaneous mutation or defect in the egg, sperm cells, or developing embryo. In fewer cases, KID syndrome is inherited, or passed down among family members. Therefore, the only known risk factor is a family history of the disorder. The incidence of inheritance of KID syndrome is unknown. When it is inherited, KID syndrome is passed on as an autosomal dominant trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to occur, only one copy of the defective GJB2 gene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.

Types of the disease
  • There have been reports of a form of ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, that is fatal during the first year of life. Death occurs as the result of severe skin problems and a serious bacterial blood infection.
  • A condition called hystrix-like ichthyosis-deafness (HID) syndrome, which has symptoms and complications similar to those of KID syndrome, may be a related disorder. However, this remains the subject of some controversy.

Copyright © 2011 Natural Standard (www.naturalstandard.com)


The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

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