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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
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PMID:Ichthyosis, deafness, and Hirschsprung's disease. 270 59

KID (keratitis, ichthyosis, deafness) syndrome is a congenital ectodermal defect of unknown etiology. Although achilles tendon retraction has been seen on several occasions, no other evidence of skeletal, articular or enthesopathic processes has been described. We report a patient with KID syndrome and acroosteolytic changes on radiographs, along with clinical and radiographic evidence of Jaccoud arthropathy.
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PMID:Jaccoud arthropathy and acroosteolysis in KID syndrome. 281 Feb 88

A female child with congenital progressive erythrokeratodermia combined with sensory hearing loss observed through a period of 5 years is reported. She demonstrates symmetrical hyperkeratotic skin changes, verrucous plaques on her nose cheeks, ears, chin, knees, elbows, and heels. Electron microscopic studies of her skin did not reveal qualitative changes, her moderate to severe hearing impairment is of cochlear origin, moderately progressive, and particularly affecting the high frequencies. Up to now a vascularizing keratitis could not be detected. Her family history is not contributory. Twenty-eight similar cases from the literature, mainly reported as 'KID' syndrome, are reviewed. There are two familial instances. Autosomal dominant inheritance is assumed. We consider the acronymic designation 'KID' syndrome misleading, since the main features of the disorder are a progressive erythrokeratodermia, cochlear deafness, and non-obligatory vascularizing keratitis.
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PMID:Progressive erythrokeratodermia and cochlear hearing impairment. A case report and review of the literature. 297 46

We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.
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PMID:The KID-syndrome in Finland. A report of four cases. 323 12

We describe here a patient with ichthyosis, keratitis, deafness, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary hypohidrotic ectodermal dysplasia. Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and soles; (2) a vascularizing keratitis that results in notable visual impairment; and (3) neurosensory deafness. One half of the affected patients also display frequent, severe cutaneous infections. We suggest that the name "the KID syndrome" to emphasize the characteristic features of the syndrome-keratitis, ichthyosis, and deafness.
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PMID:The keratitis, ichthyosis, and deafness (KID) syndrome. 722 57

We report a case of KID (Keratitis, Ichthyosis, and Deafness) syndrome in which the patient died at the age of 2 months. Detailed histological study of the affected organs, particularly the inner ear and external auditory meatus, was performed. This case is the first in which previously described principles relating to the biology of the ear canal epithelium have been applied to a patient with skin disease affecting this area.
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PMID:Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology. 843 34

The so-called KID (keratitis, ichthyosis, deafness) syndrome is a congenital disorder of ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium and the inner ear. Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. All had cutaneous and auditory abnormalities, and 95% also had ophthalmologic defects. The most frequent clinical features were neurosensory deafness 90%, erythrokeratoderma 89%, vascularizing keratitis 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%. All of these findings constitute the major criteria for the diagnosis. The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous feature and not all patients have keratitis early in the course. We suggest that this syndrome should be included under the general heading of congenital ectodermal defects as a keratodermatous ectodermal dysplasia (KED).
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PMID:Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. 1088 66

We report multiple occurrences of various kinds of tumours that originate from hair follicles in a patient diagnosed with KID (keratitis, ichthyosis, deafness) syndrome. These tumours are diagnosed as: (i) trichilemmal cysts in early lesions; (ii) proliferating trichilemmal tumours in moderate duration lesions; and (iii) malignant proliferating trichilemmal tumours in advanced lesions that are thought to progress from benign trichilemmal lesions. This three-step process raises the hypothesis of a multihit model that could account for the frequent development of tumours in KID patients.
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PMID:Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours. 1210 Jan 97

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 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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