RESUMEN
BACKGROUND: Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed until they are adults due to the mild phenotype. CASE PRESENTATION: two XP-E siblings, female, 23 years, and male, 25 years, from a Brazilian consanguineous family carrying the novel missense pathogenic variant in DDB2 gene, NM_000107.3:c.1027G > C, associated with skin cancer early-onset and severe phenotype, as nodular melanoma in the cornea and in the ear. CONCLUSION: The assessment of genomic variant pathogenicity was a challenge since this family belongs to an underrepresented population in genomic databases. Given the scarcity of literature documenting XP-E cases and the challenges encountered in achieving an early diagnosis, this report emphasizes the imperative of sun protection measures in XP-E patients. Additionally, it highlights the detrimental impact of the COVID-19 pandemic on cancer diagnosis, leading to the manifestation of a severe phenotype in affected individuals.
Asunto(s)
COVID-19 , Melanoma , Neoplasias Cutáneas , Xerodermia Pigmentosa , Masculino , Femenino , Humanos , Xerodermia Pigmentosa/genética , Xerodermia Pigmentosa/epidemiología , Xerodermia Pigmentosa/patología , Brasil , Pandemias , Hermanos , COVID-19/epidemiología , Melanoma/genética , Neoplasias Cutáneas/genética , Reparación del ADN , Proteínas de Unión al ADN/genéticaRESUMEN
Xeroderma pigmentosum (XP) is a rare genetic condition in which exposure to sunlight leads to a high tumor incidence due to defective DNA repair machinery. Herein, we investigated seven patients clinically diagnosed with XP living in a small city, Montanhas (Rio Grande do Norte), in the Northeast region of Brazil. We performed high-throughput sequencing and, surprisingly, identified two different mutated genes. Six patients carry a novel homozygote mutation in the POLH/XPV gene, c.672_673insT (p.Leu225Serfs*33), while one patient carries a homozygote mutation in the XPC gene, c.2251-1G>C. This latter mutation was previously described in Southeastern Africa (Comoro Island and Mozambique), Pakistan, and in a high incidence in Brazil. The XP-C patient had the first symptoms before the first year of life with aggressive ophthalmologic tumor progression and a melanoma onset at 7 years of age. The XP-V patients presented a milder phenotype with later onset of the disorder (mean age of 16 years old), and one of the six XP-V patients developed melanoma at 72 years. The photoprotection is minimal among them, mainly for the XP-V patients. The differences in the disease severity between XP-C (more aggressive) and XP-V (milder) patients are obvious and point to the major role of photoprotection in the XPs. We estimate that the incidence of XP patients at Montanhas can be higher, but with no diagnosis, due to poor health assistance. Patients still suffer from the stigmatization of the condition, impairing diagnosis, education for sun protection, and medical care.
RESUMEN
Introdução: Carcinoma de Cisto de Ducto Tireoglosso é umachado raro, menos de 250 casos têm sido descritos na literaturamundial. Objetivo: Demonstrar a incidência do carcinomapapilífero em cisto de ducto tireoglosso, assim como discutir seuquadro clínico, diagnóstico, tratamento e prognóstico. Relatode Caso: Paciente, sexo feminino, 75 anos, com queixa denodulação em pescoço, apresentando uma ultrassonografiacom uma imagem sugestiva de Cisto de Ducto Tireoglosso. Foirealizada uma Citopunção que não evidenciou malignidade.Foi submetida a tratamento cirúrgico e o anatomopatológicoevidenciou Carcinoma Papilífero. Foi iniciada a terapia desupressão tireoidiana e nenhuma complementação cirúrgica foiconsiderada necessária. A paciente retorna ao serviço, realizauma ultrassonografia que apresenta uma imagem nodular emTireoide, sendo indicada uma PAAF cujo resultado foi CarcinomaPapilífero. A paciente foi submetida a uma Tireoidectomia Totale atualmente encontra-se em seguimento, sem intercorrências.Conclusões: Após uma ampla pesquisa sobre o tema, observouseque a apresentação clínica Carcinoma Papilífero de Cisto deDucto Tireoglosso é idêntica ao do cisto benigno; seu diagnósticoé estabelecido após a ressecção cirúrgica do cisto, através daanatomia patológica; e o tratamento, geralmente curativo, consistena remoção cirúrgica, reservando a tireoidectomia total para oscasos de nódulos tireoidianos ou linfonodos comprometidos.
