Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0349506 (photosensitivity)
 4,145 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosa (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair. The management of complications of XP, especially orofacial tumours entails an enormous surgical challenge to the clinicians. We present five cases of XP.
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PMID:Xeroderma pigmentosum: a review and case series. 2034 87

Multiple oculo-cutaneous malignancies are a common manifestation on sun-exposed facial areas in patients with Xeroderma pigmentosum (XP). Commonly seen are the basal cell carcinoma and the squamous cell carcinomas which manifest in the early first decade in contrast to fifth and sixth decade in the general population. XP manifests as photosensitivity, hyperpigmentation, premature skin aging and malignant changes like squamous cell carcinoma, basal cell carcinoma, fibrosarcoma and rarely malignant melanoma as well as internal malignancies. We report 11 cases of Xeroderma pigmentosa managed in our institute which included sex males and five females. All had photosensitivity, hyperpigmentation and consanguinity with facial malignant lesions like SCC and BCC. Ocular signs of photophobia and excessive lacrimation was seen in all the cases while blurring of vision due to corneal clouding, corneal injection, pterygium and limbal SCC were seen in 5 cases. SCC of the lids were seen in 7 cases while BCC seen in 8 cases and limbal and conjunctival SCC seen in one case. All were managed with excision while one case of melanoma with neck secondaries needed radical neck dissection while the other orbital exenteration. Oculo-cutaneous malignancies occur in the sun exposed areas so patients are advised regular follow up with speciality care. Awareness about the rare condition and importance of early detection and prevention of UV rays induced skin damage should be propagated. The disease is ultimately fatal, life can be prolonged by simple preventive measures to minimize sun exposure and early detection of the skin lesions and management.
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PMID:Xeroderma pigmentosum: clinicopathological review of the multiple oculocutaneous malignancies and complications. 2511 64

Xeroderma Pigmentosa is a rare dermatological autosomal recessive disorder that manifests itself early in life as severe sunburn usually after a short exposure to sunlight. The prime characteristic features include photosensitivity, hyperpigmentation and ichthyosis in sun exposed areas, and an increase in the risk of basocellular and squamous cell carcinomas and melanomas of the skin and eyes. The case report highlights the preventive treatment options along with all necessary precautions that should be taken to protect the patient from any iatrogenic inadvertent exposures that may be deleterious to his present state. The purpose of the report is also to discuss the important role of dental professionals when dealing with debilitating medical conditions.
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PMID:Management of dental trauma in a child with Xeroderma Pigmentosa. 3016 80