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)

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).
 ...
PMID:Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. 1088 66

We present a child with keratitis, ichthyosis and deafness (KID) syndrome implanted with a Nucleus device. We discuss the would complications of this child and the steps taken to deal with the problems encountered when the wound failed to heal, followed by the partial extrusion of her implant. Early surgical management involved resuturing the wound but when this failed a rotational flap was required to cover the implant package and allow eventual healing. Despite the wound problems and revision surgery she has a good audiological result.
 ...
PMID:Cochlear implant extrusion in a child with keratitis, ichthyosis and deafness syndrome. 920 11

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.
 ...
PMID:Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs. 1033 88

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.
 ...
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.
 ...
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.
 ...
PMID:KID syndrome associated with features of ichthyosis hystrix. 1079 99

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, 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.
 ...
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.
 ...
PMID:Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours. 1210 Jan 97

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.
 ...
PMID:Keratitis, ichthyosis, and deafness (KID) syndrome. 1528 13


<< Previous 1 2 3 4 5 6 7 8 9 Next >>