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

A patient with the keratitis, ichthyosis and deafness (KID) syndrome is described. The patient had recurrent skin infections which led to complete scalp hair loss. The nails were dystrophic. Physical development was normal; however, his intelligence was subnormal. The erythrokeratodermatous plaques over the face, trunk and extremities were characteristic and the skin in general was dry and hyperkeratotic. Palms and soles showed marked thickening with a stippled appearance.
Clin Exp Dermatol 1993 Jul
PMID:Keratitis, ichthyosis, deafness (KID) syndrome--the first report from India. 803 1

Richner-Hanhart syndrome, also called oculo-cutaneous tyrosinosis type II, is a recessive autosomal genodermatosis consecutive to a disorder of tyrosine metabolism. It presents as a varying association of palmo-plantar keratosis, bilateral keratitis and mental retardation. The authors report a new case which is atypical in that palmoplantar keratosis made a late appearance. The diagnosis was confirmed by the presence of hypertyrosinaemia, hypertyrosinuria and urinary excretion of phenolic acids, and the absence of hepato-renal lesion. Needle biopsy of the liver, which demonstrates the deficiency of soluble cytosolic tyrosine aminotransferase, is not indispensable to the diagnosis and was not performed in our patient. Treatment consisted of a dietary measure: a controlled phenylalanine and tyrosine intake to obtain a tyrosinaemia below 10 mg/100 ml. This resulted in a favourable and durable course of the oculo-cutaneous lesions. In case of isolated skin lesion, retinoids can be prescribed either alone of combined with a diet, making it less strict.
Ann Dermatol Venereol 1993
PMID:[Oculocutaneous type II tyrosinosis]. 836 6

Odonto-onycho-dermal dysplasia is an ectodermal dysplasia (ED) described once previously in two families who exhibited atrophic malar patches, sparse hair, conical teeth, dystrophic nails and hyperkeratosis of the palms and soles. We describe a boy who developed a blistering malar rash soon after birth. When examined at 11 months, and then at 27 months of age, he had persistent atrophic malar plaques that reddened with heat. He also showed nail dystrophy, sparse hair, lingual concavity of the incisors, a bifid maxillary incisor, a five-cusped molar, and hyperhidrosis of the palms and soles. In addition he had chronic tearing, photophobia, blepharitis, and a mild keratitis. After reviewing EDs with atrophic or scar-like skin changes, we believe this child most resembles the patients with odonto-onycho-dermal dysplasia, although his eye findings are unique.
Br J Dermatol 1995 Nov
PMID:Odonto-onycho-dermal dysplasia. 855 39

Pemphigus is a group of chronic blistering diseases in which acantholysis and blister formation occur within the epidermis. Immunoglobulins and complement are found in the circulation and are bound to the cell surfaces of keratinocytes. Pemphigus is classified into several types but may be divided into two major variants, pemphigus vulgaris and pemphigus foliaceus. The primary skin lesion of pemphigus vulgaris which was often fatal before the introduction of systemic glucocorticoid therapy, is a flaccid, fragile blister which can occur anywhere. The most common skin lesions are erosions, which are often painful; suprabasal clefting within the epidermis is also present. In the majority of these patients, painful mucous membrane erosions will be the first symptom, while sometimes the conjunctiva is affected but corneal involvement is very rare. There are few reports of herpes simplex keratitis occurring with a blistering disease. This is a case report of bilateral herpes simplex virus keratitis superinfection during the glucocorticoid treatment of pemphigus vulgaris.
Clin Exp Dermatol 1996 Jul
PMID:Bilateral herpes simplex virus keratitis in a patient with pemphigus vulgaris. 895 2

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

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.
Pediatr Dermatol
PMID:Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs. 1033 88

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.
Eur J Dermatol 2000 Mar
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.
Pediatr Dermatol
PMID:KID syndrome associated with features of ichthyosis hystrix. 1079 99

We describe a young man with dissecting folliculitis of the scalp, who subsequently developed marginal keratitis. We are unaware of any previous reports of this association. The aetiology of dissecting folliculitis is thought to relate to abnormal follicular occlusion with subsequent suppuration, although an infective process has never been established. Marginal keratitis is postulated, but not proven, to be caused by an enhanced immune response to Staphylococcus aureus antigens. We suggest that a similar abnormal response to infection may be important in these two conditions. This case also highlights ocular complications which may occur in patients with dissecting folliculitis.
Clin Exp Dermatol 2001 Sep
PMID:Dissecting folliculitis of the scalp with marginal keratitis. 1167 71

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.
J Invest Dermatol 2002 Apr
PMID:A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. 1191 23


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