Estudo de uma série de casos de Xeroderma Pigmentoso no ambulatório de dermatologia do Hospital Universitário de Sergipe

Abstract

Xeroderma Pigmentosum (XP) is a rare pathology with hereditary and autosomal recessive characteristics, in which there is an extreme cutaneous sensitivity to solar radiation, leading to the appearance of cutaneous tumors. It also affects both sexes and affects any race. Generally, there is parental consanguinity. In addition to photosensitivity, it is characterized by premature aging of the skin, pigmentary skin changes and appearance of both cutaneous and internal neoplasms. This study aims to report cases of XP, describing clinical and epidemiological aspects that may help the identification and follow-up of these patients, as well as to direct new studies on this pathology. This is a case series study with clinical and epidemiological data from five medical records of patients with Xeroderma Pigmentosum of a reference unit in dermatology of the Federal University of Sergipe, in the city of Aracaju (SE), between 1997 and 2018 Of the five medical records, one was not part of the study because they did not have enough information. There were three men and one woman with ages ranging from 23 to 53 years old. All patients presented marked photosensitivity and developed BCC, SCC and melanoma in various regions of the body. Parental consanguinity was seen in three of the four patients. Three patients were classified as Phototype IV and one as Phototype III. One patient presented with mental retardation from birth. Half of the patients presented some degree of conjunctival hyperemia. All patients underwent both medical and surgical treatment and made use of sun protection measures. Only one patient underwent chemotherapy. In our series there were 5 cases of XP. There was a high occurrence of consanguinity. Despite the rarity of the disease, its impact on the patient and family is devastating. The early diagnosis of this disease would provide an adequate genetic counseling avoiding new cases in the same family. Because it is a rare pathology, more studies are needed for better care and follow-up of patients with XP.