Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we provide compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene, GJB2. In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26. One of these mutations was detected in six unrelated sporadic case subjects and also segregated in one family with vertical transmission of KID. These results indicate the presence of a common, recurrent mutation and establish its autosomal dominant nature. Cx26 and the closely related Cx30 showed differential expression in epidermal, adnexal, and corneal epithelia but were not significantly altered in lesional skin. However, mutant Cx26 was incapable of inducing intercellular coupling in vitro, which indicates its functional impairment. Our data reveal striking genotype-phenotype correlations and demonstrate that dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID. Decreased host defense and increased carcinogenic potential in KID illustrate that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis.
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PMID:Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 1191 10

Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.
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PMID:A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. 1191 23

Keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of unknown etiology in which increased susceptibility to viral, bacterial, and mycotic infections has been observed. We report an infant with KID syndrome who died from overwhelming systemic infection. To date, investigations into the immune function of patients with this syndrome have not revealed a common underlying systemic immune deficit. However, the severity of infections and multiplicity of organisms observed in this syndrome suggest that a primary immunodeficiency is present in addition to an impaired cutaneous barrier to microorganisms.
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PMID:Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. 1204 43

KID syndrome is rare. We report a 17-year-old girl who presented with universally ichthyotic red hue on the face, trunk, and extremities along with deafness and keratitis since childhood. She was diagnosed with KID syndrome. Treatment with acitretin cleared the hyperkeratotic ichthyotic lesions with little effect on the cornea or hearing. Acitretin seems to be a promising new treatment in KID syndrome.
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PMID:KID syndrome: response to acitretin. 1222 83

An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.
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PMID:Keratitis, ichthyosis, and deafness (KID) syndrome. 1528 13

We report the case of a 30-year-old woman with KID (keratitis ichthyosis deafness) syndrome consulting for massive corneal neovascularization. She had already undergone two unsuccessful penetrating keratoplasties in her left eye. Visual acuity was limited to no more than light perception because of the opacity and neovascularization of the graft. In the light of this case of limbal cell deficiency, we discuss the ophthalmologic manifestations of KID syndrome as well as its clinical characteristics, physiopathology, and mode of transmission.
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PMID:[Limbal stem cell deficiency associated with KID syndrome, about a case]. 1252 32

Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder that causes erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. We report a form of this syndrome in a patient with no evidence of keratitis. In addition this individual had clinical and biochemical evidence of carotenaemia. Carotenaemia occurring in association with KID syndrome has not been reported previously.
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PMID:Keratitis-ichthyosis-deafness syndrome and carotenaemia. 1282 2

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder that exhibits marked hyperkeratosis of the skin. We successfully treated cutaneous lesions on the soles of a patient with KID syndrome using hydrocolloid dressing.
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PMID:Marked hyperkeratosis of the soles in keratitis-ichthyosis-deafness syndrome: treatment with hydrocolloid dressing. 1453 35

We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through Xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.
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PMID:A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. 1533 80

Keratitis-ichthyosis-deafness syndrome (KID; MIM 148210) is a rare congenital disorder characterized by vascularizing keratitis, sensorineural hearing loss (HL), and progressive erythrokeratoderma. Clinical variability including a fatal course of KID in the first year of life has been reported. Germline missense mutations in GJB2, encoding connexin-26, were recently found to cause KID in 14 unrelated juvenile and adult patients. We identified a de novo GJB2 mutation G45E in a patient displaying the fatal form of the disease. No mutations were detected in five other connexin and mitochondrial genes. The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL. This finding suggests different modes of action of the same GJB2 mutation depending on the genetic background. This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in GJB2.
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PMID:GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 1563 93


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