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)

39 patients (Group A) with ocular onchocerciasis in the Sudan-savanna of north Cameroon were given 4-6 g of suramin and followed in detail over 1-2 years. 39 other patients (Group B) received suramin followed 2 weeks later by a 6-7 day course of diethylcarbamazine (DEC). A further 18 patients (Group C) received placebo injections and were followed in the same way by the same observers. Suramin caused serious general reactions among the 100 patients who started the course - 1 case of stomatitis, 1 exfoliative dermatitis, and several cases of severe prostration, among which 2 ended fatally. These reactions underline the urgency for further studies on the toxicity of suramin, which is without doubt an efficient macro- and micro-filaricidal drug. Changes which occurred in the ocular lesions are described in detail. There was an initial aggravation of punctate and sclerosing keratitis, and sometimes a serious aggravation or development of anterior uveitis, corresponding to the peak microfilaricidal effect of the drug. The possibility of a simultaneous adverse effect on the optic disc is discussed. Despite these reactions, which might have been avoided by prior elimination of microfilariae by DEC, the eyes were in general quieter at 3 months and thereafter than before treatment. However, no posterior segment lesion improved after suramin, and the majority remained unchanged. The findings at the end of the trial were as follows: No. of lesions (see article).
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PMID:Effects of suramin on ocular onchocerciasis. 98 47

Two patients with ichthyosiform erythroderma of the same unusual but characteristic distribution are described. Both patients were born with perceptive deafness and developed severe vascularizing keratitis in early childhood. There is no family history of the disorder in either case. This syndrome is discussed in relation to previous reports of atypical ichthyosiform erythroderma associated with deafness.
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PMID:Atypical ichthyosiform erythrodernam deafness and keratitis. A report of two cases. 125 51

A 24-year-old female patient with congenital ichthyosiform erythroderma, deafness and vascularizing keratitis yet also examining normal sweating and tear production when tested is reported. This unique finding indicates that a certain subgroup of patients with this generalized ectodermal disturbance may benefit from treatment with the aromatic retinoids.
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PMID:Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. 617 46

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.
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PMID:Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs. 1033 88

One case of keratitis ichthyosis deafness (KID) syndrome and two cases of bullous ichthyosiform erythroderma (BIE) were treated with systemic acitretin. The severe hyperkeratotic lesions improved dramatically with acitretin therapy in the KID case. Substantial improvement of the palmoplantar keratoderma was also observed. During follow-up, laboratory results remained within normal limits and no skeletal abnormalities were detected. The two cases with BIE also showed good responses to acitretin. Long-term follow-up of these cases showed that signs and symptoms were well under control and no adverse effects were noted.
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PMID:Severe ichthyosis-related disorders in children: response to acitretin. 1752 Apr 71

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

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