International Journal of Trichology International Journal of Trichology
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CASE REPORT
Year : 2018  |  Volume : 10  |  Issue : 5  |  Page : 234-236

Hypotrichosis with juvenile macular dystrophy


1 Department of Dermatovenereology, Hospital de Braga, Braga, Portugal
2 Department of Ophtalmology, Hospital de Braga, Braga, Portugal

Correspondence Address:
Filipa Tavares Almeida
Rua Humberto Delgado 555, Ermesinde, Porto
Portugal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijt.ijt_60_18

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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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