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)

Xeroderma pigmentosum (XP) is a rare autosomal recessive inherited disorder caused by a defect in the normal repair of DNA of various cutaneous cell types damaged by exposure to ultraviolet radiation. We present our 7-year experience with 36 XP patients who either visited the Department of Dermatology or were seen in the medical camps arranged in remote areas for patients' welfare, from 1995 to 2001. For ease of discussion we classified all cases into the following subgroups on clinical grounds only: mild, those with light brown freckles on the face alone; moderate, those with dark brown freckles with burning on the face, neck, ears, chest, hands and photophobia but without other associated obvious cutaneous and ocular changes; severe, those with extensive dark brown freckles with burning on the exposed parts as well as on the unexposed parts of the body, i.e. the chest, back, abdomen and arms including other associated cutaneous and ocular changes such as ulcers and malignancy. Of 36 patients, three (8.3%) were classified as mild, nine (25%) moderate and 24 (66.7%) severe; there were 18 males and 18 females, age range 2-30 years (mean 8.9 years). Seventeen patients had cutaneous changes: actinic keratosis, keratoacanthoma, fissures and ulcerative nodules on the exposed parts of the body. Four patients had wide ulcers, along with mass formation and severe pigmentation on the face, neck and head. Twenty-nine patients developed ocular symptoms: photophobia, conjunctivitis, corneal keratitis and lid ulcer. One patient had complete loss of vision. Histopathological findings revealed that six patients had squamous cell carcinoma (SCC) on the face, head, ear or lip. More than one sibling (two to four) was affected in four families. The majority of cases (20/36, 55.6%) were from the Brohi tribe (skin type III), while the remaining cases (16/36, 44.4%) were from the Sindhi population (skin type IV). The large number of XP patients seen in those with skin type III (Brohi tribe) compared with skin type IV (Sindhi population) indicates that the skin type and the race has a considerable value in the pathogenesis of XP. Furthermore, 24 of 36 patients were in the severe group and six of these had SCC. Moreover, no neurological abnormalities were observed in our patients. All patients were treated according to disease severity by prescribing oral antibiotics, local steroids, sunscreens and/or chemotherapy followed by irradiation in malignant cases. Two patients died because of extensive SCC.
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PMID:Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. 1578 26

The main purpose of this report is to describe nine cases of xeroderma pigmentosum with primary spontaneous corneal scarring in the absence of history of corneal ulcers or infectious keratitis. The authors studied nine patients with xeroderma pigmentosum. Each patient underwent complete ophthalmologic and dermatologic examinations. Three patients underwent excision of squamous cell carcinoma of the conjunctiva. There were five male and four female patients, with a mean age of 14 years and a range of 5 to 21 years. Seven had conjunctival squamous cell carcinoma. All patients had spontaneous diffuse corneal stromal scars without clinical evidence of keratitis and no previous history of corneal ulcer. The corneal sensation was intact. None of the patient had ulceration of the cornea. One patient had dry eye syndrome. The clinical and histopathologic changes of the cornea and conjunctiva in patients with xeroderma pigmentosum appear to be similar to the changes occurring in sun-exposed skin. This suggests that direct exposure of corneal and conjunctival tissue to ultraviolet light in patients with xeroderma pigmentosum is the primary cause of scarring in the cornea and conjunctiva, which leads to loss of vision.
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PMID:Spontaneous corneal scarring in xeroderma pigmentosum. 1737 50