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

Keratitis, ichthyosis and deafness are the dominant signs of KID syndrome. The lesions involving cornea, epidermis and internal ear are probably the result of a congenital ectodermal abnormality. Associated signs such as increased sensitivity to infections, and dermoskeleton dystrophies are also useful for the diagnosis. There are no specific biological signs. Most cases are sporadic but familial cases have been described with unclear mode of inheritance. Treatment is disappointing. Thus management mainly relies upon early detection of complications.
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PMID:[KID syndrome (keratitis, ichthyosis and deafness)]. 1019 99

A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.
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PMID:Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? 1069 6

Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. Ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ichthyosis hystrix. This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and deafness (HID) syndrome.
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PMID:KID syndrome associated with features of ichthyosis hystrix. 1079 99

Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.
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PMID:A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. 1191 23

Cogan's syndrome is a rare autoimmune disease with systemic involvement. It appears in young people and has two presentations: the typical form with keratitis, sudden deafness with or without vestibular syndrome, and the atypical form with different non keratitic ocular diseases and a great variety of systemic symptoms in relation with the autoimmune etiology of the process. Cogan's syndrome has a bad prognosis and deafness appears in 25% of the cases with the right treatment and in 60% of patients without treatment. The best treatment is systemic and ocular corticotherapy. The second treatment of choice is cyclophosphamide or cyclosporine A. We present two cases of atypical Cogan's syndrome with unilateral deafness in both.
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PMID:[Atypical Cogan's syndrome: report of two cases and revision of literature]. 1199 26

Keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of unknown etiology in which increased susceptibility to viral, bacterial, and mycotic infections has been observed. We report an infant with KID syndrome who died from overwhelming systemic infection. To date, investigations into the immune function of patients with this syndrome have not revealed a common underlying systemic immune deficit. However, the severity of infections and multiplicity of organisms observed in this syndrome suggest that a primary immunodeficiency is present in addition to an impaired cutaneous barrier to microorganisms.
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PMID:Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. 1204 43

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

KID syndrome is rare. We report a 17-year-old girl who presented with universally ichthyotic red hue on the face, trunk, and extremities along with deafness and keratitis since childhood. She was diagnosed with KID syndrome. Treatment with acitretin cleared the hyperkeratotic ichthyotic lesions with little effect on the cornea or hearing. Acitretin seems to be a promising new treatment in KID syndrome.
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PMID:KID syndrome: response to acitretin. 1222 83

An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.
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PMID:Keratitis, ichthyosis, and deafness (KID) syndrome. 1528 13

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


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