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)

Considerable variation in the frequency of the clinical manifestations of onchocerciasis was seen in the individual endemic foci of the disease in province of Esmeraldas, Ecuador. In hypoendemic areas, 84.6% of all microfilaria-positive inhabitants were found to be free of any clinical manifestations of the disease, whereas in the hyperendemic area clinical manifestations were present in 57.9% of those infected. Ocular keratitis, macular papular rash of the skin and subcutaneous onchocercal nodules of varying frequency were the major clinical variants. Long-standing onchodermatitis and hypertrophy of the skin were rarely seen. Clinical evidence of prolonged ocular and skin invasion by microfilariae was seen only in the hyperendemic area. Of the 26.1% of the microfilaria-positive inhabitants who had onchocercal nodules, 91.7% lived in the hyperendemic area. 41.1% of all nodules occurred in the region of the iliac crest. Clinical conditions associated with high microfilarial density, i.e., elephantiasis of the legs and scrotum, lymphadenopathy, hanging groin, hydrocele and inguinal hernia were seen only in the hyperendemic area. The clinical features were similar to those seen in Africa, but the low incidence of the clinical presentation and severity of the disease suggested a recent infestation of the province.
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PMID:Onchocerciasis in Ecuador. III. Clinical manifestations of the disease in the province of Esmeraldas. 671 May 79

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

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 1130 Dec 27

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 3201 37