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 (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 report on a male patient suffering from a congenital ichthyosiform dermatosis, whose family history offered no clue to the diagnosis. The skin lesions were mainly localized on the trunk, hands, elbows, and knees. During the last few years, the cutaneous lesions had slowly changed for the worse and the following additional symptoms had developed: keratitis, deafness, diffuse alopecia, dysarthria, and ataxic abasia. According to the clinical features, we established the diagnosis of KID syndrome (keratitis, ichthyosis, deafness). Although the skin lesions of our patient clinically and histologically belong to the group of atypical erythrokeratodermias, the term "KID syndrome" recently described by Skinner represents an useful, unifying clinical term.
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PMID:[Atypical erythrokeratodermia with deafness, keratitis and double mycotic infection]. 323 40

The KID syndrome is characterized by congenital ichthyosis, vascular keratitis and neurosensorial deafness. We report a 17 year old female patient, the first case of KID syndrome in Spanish literature. Red, dry, scaling skin was present at birth with sparse hair. At the age of six, malar erythema was prominent, with perioral ragades and onset of progressive neurosensory deafness. At the age of ten, vascularizing keratitis developed. At 12, treatment with etretinate failed to improve the ichthyosis. We review the clinical, pathological and analytical features of KID syndrome and discuss its relationship to other ichthyoses.
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PMID:[KID syndrome (keratitis-ichthyosis-deafness)]. 331 67

Neurological studies were performed in a young boy with keratitis, ichthyosis and deafness syndrome. Skin biopsy showed features of ichthyosis. Clinically and electrophysiologically, he had normal motor and sensory systems, but there was an acoustic nerve lesion and absence of tendon reflexes. Audiometry and brainstem auditory evoked potentials showed bilateral neurosensory deafness. Poor vision may not be due to an optic nerve lesion as evidenced on visual evoked potential findings, but is probably due to pronounced vascularizing keratitis of the cornea. Computer tomography scan showed mild hypoplasia of the inferior vermis and left side of the cerebellum.
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PMID:Clinical and electrophysiological studies in a patient with keratitis, ichthyosis and deafness (KID) syndrome. 355 95

A father and daughter had typical clinical features of the keratitis, ichthyosis, and deafness (KID) syndrome, as described by Skinner et al in 1981. To our knowledge, ours is the first observation of a vertical transmission of this syndrome. The mechanism of inheritance is uncertain. These two patients as well as the 26 previously described exhibited a typical hyperkeratotic eruption, which should not be confused with ichthyosis. The characteristic features are diffuse hyperkeratosis, keratotic plaques, reticulated hyperkeratosis on the face, peribuccal grooves, and heavy-grain leatherlike keratoderma. The occurrence of multiple squamous cell carcinomas underlines the seriousness of this congenital ectodermal defect. Etretinate can relieve the lesions without actually improving the chances of survival.
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PMID:Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. 357 58

The first case of invasive squamous cell carcinoma (SCC) arising in the skin of a patient afflicted with keratitis, ichthyosis, and deafness (KID) syndrome is reported. A 35-year-old man, diagnosed as having KID syndrome in early childhood, developed bilateral fungating lesions on his feet. The entire left foot became involved with a multinodular fungating mass which proved to harbor a SCC, necessitating a left below-knee amputation. Although rare, KID syndrome can be associated with SCC of the skin.
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PMID:Squamous cell carcinoma in congenital ichthyosis with deafness and keratitis. A case report and review of the literature. 395 9

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.
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PMID:Ichthyosis follicularis with alopecia and photophobia. 403 43

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


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