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PHOTO FEATURE
Year : 2012  |  Volume : 13  |  Issue : 1  |  Page : 34

Xeroderma pigmentosum


Department of Dermatology, Venereology and Leprology, Amala Institute of Medical Sciences, Amala Nagar, Thrissur, India

Date of Web Publication23-Oct-2012

Correspondence Address:
Abel Francis
Associate Professor, Department of Dermatology, Venereology and Leprology, Amala Institute of Medical Sciences, Amala Nagar, Thrissur- 680 555
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Francis A, Criton S, Shojan A, Philip R. Xeroderma pigmentosum. Indian J Paediatr Dermatol 2012;13:34

How to cite this URL:
Francis A, Criton S, Shojan A, Philip R. Xeroderma pigmentosum. Indian J Paediatr Dermatol [serial online] 2012 [cited 2020 Jul 6];13:34. Available from: http://www.ijpd.in/text.asp?2012/13/1/34/102809


  Introduction Top


Xeroderma pigmentosum (XP) is an autosomal-recessive condition associated with an increased susceptibility to develop cutaneous malignancies. It was first described by Hebra and Kaposi in 1874.


  Pathogenesis Top


In XP, there are eight different subtypes recognized, designated as complementation groups A-G and XP variant. Each is associated with a different site of impairment in Global Genomic Nucleotide Excision Repair (GG-NER), i.e. impairment in the removal of DNA damage from any place in the genome.


  Clinical Features Top


Patients have some photosensitivity as well as early onset of all major cutaneous malignancies like basal cell carcinomas, squamous cell carcinoma [Figure 1] and, less frequently, melanomas. Patients also easily develop sun burns with erythema edema and vesiculation. By the age of 2 years, practically all patients have developed solar letigimes [Figure 2] and the skin has also becomes xerotic. Occular abnormalities include severe photophobia, keratitis, corneal opacities and vascularization. Neurologic manifestations occur in some subtypes, and include hyporeflxia, deafness and seizures.
Figure 1: Squamous cell carcinoma scalp

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Figure 2: Multiple solar lentigenes

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  Treatment Top


Management consists of rigorous photoprotection, oral calcium and Vitamin D supplementation and removal or desruction of the malignant and premalignant lesions. Oral retinoids can be used as a chemopreventive agent. The microbial enzyme T4 endonuclease V applied topically for a period of 1 year significantly reduces the onset of new basal cell carcinomas and actinic keratosis.


    Figures

  [Figure 1], [Figure 2]



 

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  In this article
Introduction
Pathogenesis
Clinical Features
Treatment
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