About keratitis ichthyosis deafness syndrome
What is keratitis ichthyosis deafness syndrome?
Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known as the ichthyoses. KID syndrome is inherited as an autosomal dominant trait.
What are the symptoms for keratitis ichthyosis deafness syndrome?
Defective corneas symptom was found in the keratitis ichthyosis deafness syndrome condition
KID syndrome is present at birth. Nearly all cases have skin involvement, which includes red, rough, thickened Plaques that are sometimes scaling, as well as sensorineural Deafness or severe hearing impairment.
Most patients develop eye findings, predominantly keratitis (superficial defects of the cornea), which may result in the eyes being very sensitive to light (photophobia), small blood vessels growing from the iris over the cornea (neovascularization), and progressive decline of vision. A small percentage of patients may have recurrent or Chronic Inflammation of the mucous membrane of the eye (conjunctivitis).
Sparse hair or areas of baldness (alopecia) are relatively common, while a complete lack of hair is rare. The palms of the hands and soles of the feet have thickened hardened skin in most patients, while a smaller percentage may have absent or abnormal nails.
There is a whole spectrum of other associated symptoms, including recurrent infections, abnormal teeth, reduced sweating, and an increased risk for developing squamous cell carcinoma of the skin or mucous membranes, which may occur in some but not many patients. A very small percentage of patients encounter life-threatening infections during the neonatal period.
What are the causes for keratitis ichthyosis deafness syndrome?
KID syndrome is a genetic disorder and can be transmitted from a parent to a child in an autosomal dominant fashion. That means that each individual affected with the disease will have one abnormal gene for the disease and one normal gene. When, by chance, the abnormal gene copy is passed on to the offspring, the child will be affected. When the normal gene copy is transmitted, the child will be unaffected. The risk for an adult with KID syndrome to have an affected child is 50% for each pregnancy. Nevertheless, approximately nine out of ten patients carry a new, spontaneously occurring mutation that is not present in either parent.
The gene whose mutation causes KID syndrome is called gap junction protein beta 2 (GJB2) and is located on the long arm of human chromosome 13 (13q11-q12). This gene encodes the structural protein “connexin-26” (Cx26), which forms gap junction channels that connect neighboring cells and permit the exchange of small molecules and ions. The impairment of this connection and exchange may affect direct cell-to-cell communication in the skin and other tissues, such as the cornea and inner ear. Very rarely, KID syndrome with congenital absence of hair, may be caused by mutations in the gene GJB6 encoding the gap junction protein beta 6, also known as “connexin-30,” which fulfills similar functions as connexin-26.
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 13q11-q12” refers to bands 11-12 on the long arm of chromosome 13. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
What are the treatments for keratitis ichthyosis deafness syndrome?
Individuals with KID syndrome usually require multidisciplinary treatment due to the involvement of several organ systems and the potential impairment of hearing, speech, and sight.
The skin symptoms of KID syndrome can be treated by applying skin softening emollients. This can be particularly effective after bathing while the skin is still moist. Lotions containing alpha-hydroxy acids can be an effective treatment for scaling skin. Cholesterol or ceramide containing emollients may also improve the scaling.
Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
What are the risk factors for keratitis ichthyosis deafness syndrome?
Keratitis ichthyosis deafness (KID) syndrome is an unusual, multi-system illness caused by a genetic mutation.
- KID syndrome is an autosomal dominant condition that is inherited.
- It is a genetic condition that can be passed down from parent to child in an autosomal dominant manner. That means that each person affected by the disease will have one defective gene and one normal gene.
- The kid will be affected if the faulty gene copy is accidentally transmitted on to the progeny.
- The child will be unaffected if the usual gene copy is delivered.
- Each pregnancy, an adult with KID syndrome has a 50% chance of having an affected kid. Nonetheless, about 9 out of 10 patients have a new, spontaneously arising mutation that neither parent has.
- Females appear to be affected slightly more frequently than males by KID syndrome.
- The illness is extremely rare, with only 100 examples described in the medical literature. The ichthyoses collectively affect over 1,000,000 persons in the United States.
Symptoms
Superficial defects of the cornea, which may result in the eyes being very sensitive to light (photophobia), small blood vessels growing from the iris over the cornea (neovascularization), and progressive decline of vision,A small percentage of patients may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis)
Conditions
Keratitis,Photophobia,Neovascularization,Reduced visual acuity,Thick, hard skin on the hand and feet,Erythrokeratoderma,Ichthyosis
Drugs
NA
Is there a cure/medications for keratitis ichthyosis deafness syndrome?
Keratitis ichthyosis deafness (KID) syndrome is distinguished by corneal surface defects (keratitis), red, rough, thicker skin plaques (erythrokeratoderma), and sensorineural deafness or acute hearing disability.
Treatment
- Individuals with KID syndrome typically require multidisciplinary treatment because to the involvement of many organ systems and the potential for hearing, speech, and vision impairment.
- Skin softening emollients can be used to treat the skin signs of KID syndrome. This is especially effective after showering because the skin is still moist. Alpha-hydroxy acid lotions can be a successful therapy for scaling skin. Emollients containing cholesterol or ceramides may also help with scaling.
- Affected families and individuals may benefit from genetic counseling.
- Other forms of treatment include symptomatic and supportive.
Symptoms
Superficial defects of the cornea, which may result in the eyes being very sensitive to light (photophobia), small blood vessels growing from the iris over the cornea (neovascularization), and progressive decline of vision,A small percentage of patients may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis)
Conditions
Keratitis,Photophobia,Neovascularization,Reduced visual acuity,Thick, hard skin on the hand and feet,Erythrokeratoderma,Ichthyosis
Drugs
NA
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