Open AccessHypotrichosis with juvenile macular dystrophy
Author(s) -
FilipaTavares Almeida,
Rui Carneiro-Freitas,
Regina Caldas,
AnaPaula Vieira
Publication year - 2018
Publication title -
international journal of trichology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 22
eISSN - 0974-9241
pISSN - 0974-7753
DOI - 10.4103/ijt.ijt_60_18
Subject(s) - hypotrichosis , genodermatosis , macular dystrophy , macular degeneration , dystrophy , medicine , juvenile , blindness , dermatology , disease , ophthalmology , pathology , genetics , biology , gene , optometry
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.
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