Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

Abstract

Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorouracil and regular consultations with dermatologists, ophthalmologists, neurologists and dentists forms an important part of the treatment protocol. This paper aims to throw light on the etiopathogenesis, clinical features and treatment modalities of this life threatening disease. There is also a special mention on the oral manifestations and dental health considerations of the rare disorder.

Enigma of oral potentially malignant disorders - A brief overview

“…Consanguinity as well as certain drugs and chemicals has also been implicated to play a role in the etiology of XP. [19] …”

“…Hence, individuals have poor oral hygiene, increased accumulation dental plaque, caries, and periodontal disease. [19] Malignant potential BCC, SCC, and melanoma are most commonly seen in XP. BCC and SCC destroy local skin and underlying tissues but do not spread to internal organs.…”

“…This lesion is characterized by mottled hyper-pigmented and hypopigmented areas. [18,19] Ocular manifestations such as photophobia, conjunctival infection, ocular lesion with erythema, and loss of lashes. Individual with XP have increased risk of SCC of eyes, oral mucosa and skin, melanoma, and multiple BCC.…”

“…One-fifth of individual have an associated abnormalities such as difficulty swallowing, deafness, delay in growth, and low intelligence. [19] Oral leukoplakia, erythroplakia, actinic cheilitis, and SCC of the tip of the tongue and lips in younger individual and are presumed to be induced by UV radiation. Individuals with XP are more prone for fibrosis and stretching of this fibrosed areas result in pain while performing action of speech, while having food, and oral hygiene maintenance.…”

“…[18] The term "xeroderma or parchment skin" was initially described and in 1882 later the term "pigmentosum" was added to emphasize the striking pigmentary abnormality. [19] Etiopathogenesis XP is mainly caused due to the defect in the nucleotide excision repair mechanism with defective repair of DNA and damage to various cell UV radiation. Many XP patients with tumors show mutations in the p53 gene, indicating the mutation is characteristic of UV exposure.…”