Xeroderma pigmentosum: the stars sons. Case report and review of the literature

TLDR: The case of a 30-year-old man who was diagnosed with XP at age 9, and eye examination revealed bilateral corneal opacities and conjunctival chemosis, underline the importance of a multidisciplinary approach for the management of patients with XP to prevent the serious complications that this disease can determine.

Abstract: Xeroderma pigmentosum (XP) is a rare condition inherited as an autosomal recessive trait and it is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumors development resulting from the defect in DNA repair. The skin cancers, that include squamous and basal cell carcinomas and melanomas, are predominantly caused by exposure to ultraviolet B (UVB) radiation, although UVA cannot be excluded. The mean age of onset of the neoplasms is 8 years of age in XP patients, as opposed to 60 years of age in the general population. In addition to cutaneous findings, patients often develop ocular abnormalities including ectropion, corneal opacities, neoplasms and neurologic abnormalities as ataxia, loss of reflexes, sensorineural hearing loss, dysphagia, and decreasing cognition. The maximal form of neurological involvement has been defined the De Sanctis-Cacchione Syndrome that is characterized by retarded growth, spasticity and serious intelligence debility. Segmental demyelinisation, microcephaly, inner ear deafness and epilepsy may also be additional neurological signs of xeroderma pigmentosum patients. XP was described in Vienna by a hungarian professor of dermatology Moriz Kaposi in 1870 and in 1874 it was first called ‘‘xeroderma or parchment skin’’ while in 1882 the term ‘‘pigmentosum’’ was added to emphasize the striking pigmentary abnormality. Estimated incidences vary from 1 out of 20,000 in Japan to 1 out of 250,000 in the USA. It affects males and females equally and it is frequently symptomatic in childhood. Xeroderma pigmentosum must be distinguished from other so-called DNA-Repair Deficiency Syndromes as the Cockayne Syndrome (CS) and trichothiodystrophy (TTD) and other rare diseases characterized by pigmentation changes as Erythropoietic Protoporphyria, LEOPARD syndrome, Carney complex and PeutzJeghers syndrome. The prognosis of patients with XP includes a high morbidity and early mortality. Although there is no cure for XP, the skin effects can be minimized by rigorous protection from sunlight and early removal of pre-cancerous lesions. Oral 13-cis retinoic acid has shown to reduce the incidence of epithelial new cancers in XP patients because of retinoids modulate keratinocyte differentiation. We present the case of a 30-year-old man who was diagnosed with XP at age 9. The first skin lesions had appeared at five years of age, and had increased over time. Other clinical signs included photophobia and loss of eyelashes. Eye examination revealed bilateral corneal opacities and conjunctival chemosis. We underline the importance of a multidisciplinary approach for the management of patients with XP to prevent the serious complications that this disease can determine.