1. Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
- Author
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Aparecida Machado de Moraes, Marina Silva Guinda Ribeiro, Carmen Silvia Passos Lima, Gabriella Lucato Zunta, Jéssica Silva Santos, and Manoela M. Ortega
- Subjects
0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Xeroderma pigmentosum ,Keratosis ,Case Report ,ultraviolet rays ,Disease ,03 medical and health sciences ,Genetics ,medicine ,skin and connective tissue diseases ,Genetics (clinical) ,integumentary system ,business.industry ,nutritional and metabolic diseases ,Skin abnormality ,xeroderma pigmentosum ,medicine.disease ,Hyperpigmentation ,Dermatology ,eye diseases ,030104 developmental biology ,DNA repair-deficiency disorders ,medicine.symptom ,business ,Defective DNA repair ,Nucleotide excision repair - Abstract
Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.
- Published
- 2018
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