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

ABSTRACT: 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.

SUBMITTER: Ahmed A

PROVIDER: S-EPMC7879292 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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

Ahmed Azhar A Alali Azhar A Alsharif Osama O Kaki Adnan A

Skin appendage disorders 20201215 1

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 ...[more]

PMID: 33614726

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