Xeroderma Pigmentosum: A Bane in developing country – Brief report

Abstract

IntroductionXeroderma pigmentosum is a rare, genetically heterogeneous, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing, and the development of various cutaneous and internal malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair (NER) defect leading to a defective repair of DNA damaged by ultra violet (UV) radiation [1]. XP is characterized by clinical and cellular hypersensitivity to UV radiation manifesting as intolerance of skin and eyes to light. The skin lesions are comprised of freckles on limbs and face with a dry skin covered with a mixture of mottled, hypopigmented and hyperpigmented, atrophic rounded and oval macules, giving the entire skin a checkered appearance associated with a generalized actinic keratoses, manifesting on black skin as palpable, rough, blackish spots covered with adherent scales [2,4]. These skin lesions cover both the sun exposed and covered areas. The skin later develops cutaneous malignancies. Ocular changes include photophobia, ocular pigmentary changes, conjunctivitis, corneal keratitis, ulcers, blindness, and malignancies. The diagnosis of XP can be established with studies performed in specialized laboratories. These studies include cellular hypersensitivity to UV radiation and chromosomal breakage studies, complementation

The burden of xeroderma pigmentosum in two families followed at the Department of Dermatology and Venereology of the National Hospital in Niamey, Niger

“…The ulcero-budding tumor was the most common reason for consultation, in seven out of the eight cases in our series, whereas it was observed later elsewhere [1]. The first signs observed were between the age of six months and twenty-four months, as in some sources in which the age of onset was between three months and twenty-six months [12,13]. Several studies [2,14] reported the appearance of tumors between the age of two years and eight years, which was proportional in our series, in which the tumors appeared between three and five years of age.…”

Skin Pigmentation Types, Causes and Treatment—A Review

“…Mild acne typically doesn’t cause hyperpigmentation. Acne lesions that have been squeezed, squashed, or penetrated will also darken and become more pigmented [ 32 ]. Some causes of hyperpigmentation include pregnancy-related birthmarks, age spots, acne scars, and a number of drugs, including antibiotics, birth control pills, antimalarials, and tricyclic antidepressants.…”

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“…Its autosomal recessive transmission explains its relative frequency in countries where consanguinity is high and the size of families is considerable, for instance, in Morocco [3]. In 1968, Cleaver demonstrated a deficiency of UV repair of deoxyribonucleic acid (DNA) in XP cells [4], which produces hypersensitivity to ultraviolet rays and, consequently, a high risk of developing signs of "Heloderma" and poikiloderma associated with xerosis and skin fragility, sometimes evolving to infected and trailing ulcerations, as well as cutaneous malignant tumors and oculars at an early age [5]. Indeed, it has been shown that the clinical heterogeneity of this disease is linked to the existence of alteration in the genes belonging to the various classical complementation groups-XP-A to XP-G-which are distinguished by certain symptomatic and evolutionary peculiarities.…”