November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
1 citations
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March 2023 in “Journal of the Turkish Academy of Dermatology” Temporal triangular alopecia may be linked to sebaceous nevus and shows a new pinkish background feature.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
10 citations
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September 2020 in “Computational and Mathematical Methods in Medicine” Researchers developed an algorithm for self-diagnosing scalp conditions with high accuracy using smart device-attached microscopes.