REOCCURENCE XERODERMA PIGMENTOSUM WITHIN ONE GENERATION

Abstract

Xeroderma Pigmentosum (XP) is caused by impaired repair of DNA defects induced by ultraviolet (UV) radiation and is inherited in an autosomal recessive manner. Consanguinity is the main etiological factor of XP and an important factor in autosomal recessive diseases. Clinical symptoms of XP can be cutaneous and non-cutaneous. The patient was a 2-year-old boy with complaints of dark spots on the face to both arms since 6 months of age that increased in number within 1.5 years. The patient's older sibling had XP. The patient also had complaints of red eyes and glare since 1 year ago. Dermatological examination of the facial region and superior extremities dextra and sinistra revealed hyperpigmented macules and patches, multiple, well-defined, regular margins, variable in shape and size. Physical examination of the eyes revealed neovascularisation and conjunctivalisation and diagnosed as ODS Limbal Stem Cell Deficiency. The patient was treated with sunscreen with 30 SPF and olium olivarum 2 dd ue on dry areas. Levofloxacin eye drops were given to both eyes. There was no familial relationship between the patient's parents. Based on the inheritance pattern of autosomal recessive disease, the patient's parents are suspected to be XP carriers, increasing the possibility (>25%) of XP in their offspring. Comprehensive counselling regarding hereditary genetic diseases and marital history from several different generations should be done to prevent the occurrence of XP in the offspring.