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)

KID is a rare ectodermal syndrome of unknown etiology. It is characterized by vascular keratitis (K), congenital ichthyosis (I) and neurosensorial deafness (D). We report the cases of three patients with KID syndrome who all had typical vascular keratitis responsible for photophobia and impaired visual acuity, and severe meibomian dysfunction associated with hyperkeratotic lid borders. The authors believe that meibomian dysfunction plays an important role in the pathogenesis of ocular lesions. Consequently, patients were treated with oral minocycline, topical steroids and artificial tears. This treatment proved to significantly reduce ocular discomfort.
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PMID:[KID syndrome: pathogenesis of ocular lesions]. 1597 20

Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the GJB2 gene. In addition to the classical features of vascularizing keratitis, erythrokeratoderma and congenital deafness, our patient presented a follicular occlusion triad with hidradenitis suppurativa (HS, alias acne inversa), acne conglobata and dissecting cellulitis of the scalp, leading to cicatricial alopecia and disfiguring, inflammatory vegetations of his scalp. Conservative therapy such as a keratolytic, rehydrating and antiseptic external therapy, antibiotic, antimycotic and retinoids were only of moderate benefit, so we finally chose the curative possibility of surgery therapy of the axillar papillomas and of the scalp. The inflammatory papillomatous regions of the axillae and of the scalp were radically debrided. Clean granulation was awaited and covered in a second session with a mesh graft from the thigh, achieving a satisfactory result. To our knowledge, only one case of KID syndrome occurring in association with follicular occlusion triad has been reported before.
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PMID:Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 1617 43

A 26-year-old Japanese woman was referred to our hospital with generalized hyperkeratosis associated with keratitis and a hearing defect. The patient was born from nonconsanguineous parents. Her skin was moderately hyperkeratotic at birth. During childhood, the thickness of the skin increased progressively. Bilateral sensorineural deafness was recognized at the age of 3 years. Visual disturbance was noted in later childhood, and corneal transplantations to the right eye were performed twice at the age of 16 and 25 years, but did not improve her visual acuity. There was no family history of similar disease. On physical examination, the patient showed erythematous, keratotic, scaly plaques on the cheeks, auricles, and perioral area (Fig. 1a). A grainy, spiculated, hyperkeratotic papillomatosis was particularly marked on the palms and the edge of the feet (Fig. 1b,c). The nails were slight hypertrophic, but not dystrophic. Ophthalmologic examination revealed the loss of eyebrows and eyelashes and hyperkeratotic lesions of the eyelids (Fig. 1d). Corneal opacification was observed in the right eye. Conjunctivitis and blepharitis with photophobia were also observed in both eyes (Fig. 1d,e). A skin biopsy specimen from the right lower thigh showed basket-wave hyperkeratosis and papillomatosis of the epidermis. Hyperkeratotic plugs were not observed (Fig. 1f). Laboratory data, including complete blood cell count, sedimentation rate, immunoglobulins and transaminases, urea, cholesterol, and triglycerides were normal. With informed consent, genomic DNA was extracted from blood samples. The complete open reading frame of the GJB2 gene was polymerase chain reaction amplified and sequenced. A transition mutation (148G --> A) was detected, resulting in a putative amino acid change from aspartic acid to asparagine at codon 50 (Fig. 2). The mutation was not present in her parents or two siblings. These clinical, pathologic, and genetic data supported the diagnosis of keratitis-ichthyosis-deafness syndrome.
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PMID:A case of keratitis-ichthyosis-deafness (KID) syndrome. 1744 83

Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease. Most of the cases caused by GJB2 mutations are sporadic, but dominant transmission has also been described. To date, the rare lethal form of the disease has been only observed in two Caucasian sporadic patients with the GJB2 mutation, with the p.Gly45Glu (G45E) arising de novo. We have reported an African family with dizygotic twins suffering from a lethal form of KID. The dizygosity of the twins was confirmed by microsatellite markers. The two patients were heterozygous for the G45E mutation of GJB2, whereas the mutation was not detected in the two parents. The unusual transmission of the disease observed in this family could be explained by the occurrence of a somatic or more probably a germinal mosaic in one of the parents.
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PMID:A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. 1802 54

KID syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We have described a 4-year-old girl who is treated with bland emollients and topical keratolytics such as urea and surprisingly observed marked improvement in skin hyperkeratosis and palmoplantar keratoderma. We think that along with urgent ophthalmologic and otolaryngologic measures, simple topical therapies may improve skin condition in KID syndrome precluding the possible hazards of systemic retinoid therapy.
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PMID:KID syndrome. 1831 8

Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene. It is characterized by the association of ichthyosis-like skin lesions, hearing loss, and vascularizing keratitis. We report the clinical and molecular findings in a 5-year-old girl with keratitis ichthyosis deafness syndrome. DNA sequencing in our patient revealed a p.Ser17Phe mutation in GJB2. Besides the typical clinical features of keratitis ichthyosis deafness syndrome, a peculiar intriguing finding not previously described in the literature in this condition was that polarizing light microscopy of the scalp hair in our patient revealed striking bright and dark bands as seen in trichothiodystrophy. Amino acid analysis of the hair sample also disclosed a reduced cysteine index. We emphasize that it would be of great benefit to examine hair shafts in other patients with keratitis ichthyosis deafness syndrome for trichothiodystrophy-like abnormalities.
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PMID:Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome. 1878 90

Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis-ichthyosis-deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias.
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PMID:A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 1895 Mar 94

The Keratitis-Ichthyosis-Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle. The association of KID syndrome with DWM has been reported a few times, but thought to be coincidental. We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology.
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PMID:Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. 1979 13

KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. KID syndrome is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26). Cx26 is a component of gap junction channels in the epidermis and in the stria vascularis of the cochlea. These channels play a role in the coordinated exchange of molecules and ions occurring in a wide spectrum of cellular activities. In this paper we describe two patients with Cx26 mutations cause cell death by the alteration of protein trafficking, membrane localization and probably interfering with intracellular ion concentrations. We discuss the pathogenesis of both the hearing and skin phenotypes.
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PMID:Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. 2030 1

Keratitis-ichthyosis-deafness (KID) syndrome is an autosomal dominant congenital ectodermal defect characterized by the association of skin lesions, hearing loss and keratitis. Most of the cases appear to be sporadic. KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. Recently, a lethal form of the disease during the first year of life has been reported in two unrelated Caucasian patients. This rare lethal form is caused by the G45E mutation of GJB2 gene. We here report the first pre-natal molecular genetic diagnosis of the lethal form of KID syndrome relating to a G45E mutation. In the same family, the occurrence of this condition in three other siblings born to African non-consanguineous healthy parents lead to perform pre-natal diagnosis for this last pregnancy. Molecular analysis confirms the diagnosis of the lethal form of KID for the fetus. These results establish the role of germline mosaicism in KID syndrome and warrant careful genetic counseling. Furthermore, analysis of our cases and the literature allowed us to define a characteristic severe neonatal phenotype including facial dysmorphy, severe cornification with massive focal hyperkeratosis of the skin with erythroderma, dystrophic nails, complete atrichia and absence of foreskin.
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PMID:Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form. 2041 16


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