Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with s...

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Veröffentlicht in:Skin appendage disorders 2021-01, Vol.7 (1), p.75-79
Hauptverfasser: Ahmed, Azhar, Alali, Azhar, Alsharif, Osama, Kaki, Adnan
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Novel Insights from Clinical Practice
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creator Ahmed, Azhar
Alali, Azhar
Alsharif, Osama
Kaki, Adnan
description Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with severe visual impairment in their early life. We suspect the diagnosis of hypotrichosis with juvenile macular dystrophy. Genetic testing confirms the clinical suspension. We emphasize the importance of genetic testing for proper genetic counseling.
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title Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
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