| CASE REPORT |
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| Year : 2018 | Volume
: 10
| Issue : 5 | Page : 234-236 |
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Hypotrichosis with juvenile macular dystrophy
Filipa Tavares Almeida1, Rui Carneiro-Freitas2, Regina Caldas1, Ana Paula Vieira1
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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