Xeroderma pigmentosum: case report.

OBJECTIVE: The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP). CASE DESCRIPTION: An 8-year-old male patient was referred to the Joana de Gusmão Hospital (HIJG) in 2021 for evaluation and specialized care. Previously, the child was followed in his place of origin by oncologic and palliative care, where he was submitted to surgeries and chemotherapy. He was admitted to the HIJG using vismodegib, acitrein, tramadol, and solar protective measures. On physical examination, there were tumors and disseminated macular verrucous and ulcerated lesions. The imaging examination showed solid and expansive lesions on the face, and atelectasis and fibroscarring changes in the lung. The histopathological report proved the existence of melanocanthoma, carcinoma, and pyogenic granuloma. After the evaluation of the case, no surgery, chemotherapy, or radiotherapy was performed. It was decided to maintain the palliative treatment and to continue the use of tramadol for pain, and vismodegib and acitretin were used to control carcinomas and prophylactic measures. COMMENTS: The XP is a rare disease of autosomal recessive inheritance whose mechanism comes from failure in the DNA repair by exposure to ultraviolet rays, resulting in lesions on the skin and mucous membranes. They start as sunburns and can progress to melanosis, areas with altered pigmentation, premature aging, poikiloderma, and areas of high risk for neoplasms.

Quality of life of pediatric patients with atopic dermatitis and their caregivers.

To compare the quality of life (QoL) of children with and without atopic dermatitis (AD) and that of their caregivers and to assess their QoL according to different degrees of AD. This is a cross-sectional, case-control study conducted with patients aged between 4 and 12 years with and without AD and their caregivers. Patients were treated at the Pediatric Dermatology Outpatient Center and the Childcare Center of the Joana de Gusmão Children's Hospital, respectively, from June 2021 to March 2022. The QoL Assessment Scale Autoquestionnaire Qualité de Vie Infant Imagé (AUQEI) was applied to children and adolescents with AD and the control group while the World Health Organization Quality of Life assessment instrument was administered to their caregivers. Fifty cases and fifty controls were included in this study. When assessing the QoL of the case and control groups, statistically significant differences were found in the domains of the AUQUEI instrument. Regarding QoL and AD severity, a statistically significant difference was seen (p = 0.027) when comparing moderate and severe SCORAD scores. When comparing the QoL of children with and without AD, a difference was seen between the two groups. The QoL of AD patients was worse and related to the severity of the disease. A better QoL was found among the caregivers in the control group. In the case group, the higher the SCORAD score, the worse the QoL. No relationship was found between AD severity and the QoL of the caregivers in the case group.

Xeroderma pigmentosum: case report / Xeroderma pigmentoso: relato de caso

Abstract Objective: The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP). Case description: An 8-year-old male patient was referred to the Joana de Gusmão Hospital (HIJG) in 2021 for evaluation and specialized care. Previously, the child was followed in his place of origin by oncologic and palliative care, where he was submitted to surgeries and chemotherapy. He was admitted to the HIJG using vismodegib, acitrein, tramadol, and solar protective measures. On physical examination, there were tumors and disseminated macular verrucous and ulcerated lesions. The imaging examination showed solid and expansive lesions on the face, and atelectasis and fibroscarring changes in the lung. The histopathological report proved the existence of melanocanthoma, carcinoma, and pyogenic granuloma. After the evaluation of the case, no surgery, chemotherapy, or radiotherapy was performed. It was decided to maintain the palliative treatment and to continue the use of tramadol for pain, and vismodegib and acitretin were used to control carcinomas and prophylactic measures. Comments: The XP is a rare disease of autosomal recessive inheritance whose mechanism comes from failure in the DNA repair by exposure to ultraviolet rays, resulting in lesions on the skin and mucous membranes. They start as sunburns and can progress to melanosis, areas with altered pigmentation, premature aging, poikiloderma, and areas of high risk for neoplasms.

RESUMO Objetivo: Descrever a patologia e o tratamento realizado e alertar profissionais de saúde sobre os sinais e sintomas e sobre a necessidade de diagnóstico precoce em pacientes com xeroderma pigmentoso (XP). Descrição do caso: Paciente do sexo masculino, oito anos, foi encaminhado ao Hospital Joana de Gusmão (HIJG) em 2021, com dianóstico de XP, para avaliação e atendimento especializado. Anteriomente, encontrava-se em serviço de oncologia e de cuidados paliativos em sua cidade de origem, mas já realizara cirurgias e quimioterapias previamente. Foi internado no HIJG em uso de vismodegibe, acitretina, tramadol e medidas de proteção solar. Ao exame físico, apresentou lesões maculares, verrucosas, ulceradas e tumores pelo corpo. Os exames de imagem revelaram lesões sólidas e expansivas na face e atelectasias e alterações fibrocicroscópicas no pulmão. O laudo histopatológico comprovou a existência de melanocantoma, carcinoma e granuloma piogênico. Após a avaliação do caso, optou-se por não realizar cirurgias, quimioterapia nem radioterapia. Decidiu-se manter o tratamento paliativo, continuando o uso de tramadol para dor, vismodegibe e acitretina para o controle de carcinomas e profilaxia à exposição ao sol. Comentários: O XP é uma doença rara de herança autossômica recessiva, cujo mecanismo provém de falha no reparo do DNA pela exposição à luz ultravioleta, resultando em lesões de pele e mucosas. Inicia-se como queimaduras solares e pode avançar para melanoses, áreas com pigmentação alterada, envelhecimento precoce, poiquilodermia e áreas de alto risco neoplásico.