A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
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April 2025 in “Journal of Ethnopharmacology” Amygdalin in Persicae Semen may help treat hair loss by promoting hair growth and regulating key pathways.
5 citations
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October 2024 in “Reumatismo” Upadacitinib significantly improved alopecia universalis and psoriatic arthritis in a patient.
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January 2015 May 2018 in “Dermatologic Surgery” Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
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July 2016 in “Journal of dermatology” Intramuscular triamcinolone acetonide is an effective treatment for severe alopecia areata, especially in males.
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