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 (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

Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2. The heterozygous mutation in codon 42, AAC>AAG, changes asparagine to lysine (N14K). Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. Instead, there is a clear phenotypic overlap with syndromes associated with connexin26 or 30 mutations. Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease.
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PMID:A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 1524 27

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

Gap junctions are intercellular channels that allow the passage of water, ions, and small molecules. They are involved in quick, short-range messaging between cells and are found in skin, nervous tissue, heart, and muscle. An increasing number of hereditary skin disorders appear to be caused by mutations in one of the genes coding for the constituent proteins of gap junctions, known as connexins. In this review, the currently known connexin disorders that feature skin abnormalities are described: keratitis-ichthyosis deafness syndrome, erythrokeratoderma variabilis, Vohwinkel's syndrome, and a novel disorder called hypotrichosis-deafness syndrome. What is known about the pathogenesis of these disorders is discussed and related to gap junction physiology.
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PMID:Gap junction diseases of the skin. 1546 69

Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. We report here a novel GJB2 mutation N54K segregating in a family with BPS, which was not detected in 110 control individuals of Northern European ancestry. This non-conservative missense mutation lies within a cluster of pathogenic GJB2 mutations affecting the evolutionary conserved first extracellular loop of Cx26 important for docking of connexin hemichannels and voltage gating. Immunostaining of Cx26 in lesional palmar and knuckle skin was weak or absent, although its adnexal expression appeared normal and the punctate membrane staining of Cx26 and other epidermal connexins was not altered. Nevertheless, the widespread immunostaining of Cx30 throughout the spinous cell layers suggested a compensatory overexpression. Our results emphasize that pleiotropic GJB2 mutations are responsible for at least 5 overlapping dermatological disorders associated with syndromic hearing loss and cover a wide range of severity and organ involvement.
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PMID:Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 1548 71

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

Classical Cogan's syndrome is a disease of the inner ear with participation of the eyes, typically involving keratitis. If no objectively assessable optical symptoms are present, a diagnosis is difficult. Additional nonspecific symptoms can, combined with inner ear participation, suggest Cogan's syndrome. Between 2001 and 2003, we documented the course of two patients with Cogan's syndrome. As indicated in the literature, organ related symptoms could be related to a generalized vascular illness. In addition to the usual otological symptoms with cochleovestibular dysfunction and symptoms of typical and atypical ocular manifestations, other non-specific changes were found. Interstitial keratitis was diagnosed in one patient while in the second objective ophthalmological symptoms failed. The symptoms could be improved by systemic and local administration of corticosteroids and immunosuppressive therapy, however, progression of inner ear deafness could not be stopped in one patient and a cochlear implant was necessary.
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PMID:[Cogan's syndrome: a diagnostic challenge]. 1614 46

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

The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.
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PMID:Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. 1667 58


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