Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Ichthyosis follicularis with alopecia and photophobia. 403 43

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.
 ...
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.
 ...
PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 1130 Dec 27

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.
 ...
PMID:Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form. 2041 16

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.
 ...
PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 3201 37