Bloom’s syndrome: 5 siblings living in a sunny area of Brazil
- Journal of Dermatology & Cosmetology
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Mariana Milet,1 Lara Melo,1 Ricardo Tadeu Villa,2 Ana Carolina Fortes Braga Brederodes Villa,2 Mika Yamaguchi,3 Christopher Cunniff4
Abstract
Bloom's syndrome is an extremely rare inherited disorder. We present 5 cases of Bloom's syndrome in a Brazilian family living in a very sunny area. Patients were born from a consanguineous union of second-degree cousins and presented growth retardation, narrow facies with poikiloderma, café-au-lait macules and photosensitivity.
Keywords
Bloom's syndrome, genodermatosis, photosensitivity, autosomal recessive, diabetes mellitus, hypogonadism, infertility, ocular disorders, erythropoietic protoporphyria
