Hypotrichosis with Juvenile Macular Dystrophy

Almeida, FT; Carneiro-Freitas, R; Caldas, R; Vieira, AP

http://hdl.handle.net/10400.23/1298

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Abstract(s)

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.