January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
7 citations
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September 2014 in “PubMed” People with androgenetic alopecia (hair loss) may have a higher risk of developing metabolic syndrome.
May 2024 in “Research Square (Research Square)” Pediatric androgenetic alopecia is linked to obesity, family history, hormonal imbalances, and requires personalized treatment including managing comorbidities.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
5 citations
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December 2004 in “Dermatology” Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
February 2026 in “Frontiers in Medicine” Fibrosing alopecia starts earlier in Latin American men and often looks like common male pattern baldness.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
December 2023 in “Benha Journal of Applied Sciences” Men with male pattern baldness have higher blood sugar, bad cholesterol, and ZAG protein levels than healthy men.
March 2025 in “Revista Foco” Early diagnosis of Alopecia Frontal Fibrosante is crucial for effective treatment.
8 citations
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January 2018 in “Middle East Journal of Digestive Diseases” A man with complete hair loss and ulcerative colitis regrew hair after treatment with azathioprine.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
October 2018 in “International Journal of Research in Dermatology” People with androgenetic alopecia are more likely to have metabolic syndrome.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
1 citations
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February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
January 2016 in “ACG Case Reports Journal” A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
Improved nutrition quickly healed the patient's skin lesions.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” The study concluded that a 'Swiss cheese' pattern in hair follicles is a useful sign for diagnosing alopecia areata.
March 2018 in “Dermatología Argentina” The study found that the average age of women diagnosed with Frontal Fibrosing Alopecia in Argentina is higher than in other countries, but their symptoms are similar.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
April 2025 in “Journal of Cosmetic Dermatology” Azathioprine is a safe and effective long-term treatment for severe alopecia areata, significantly improving hair regrowth.
40 citations
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May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
January 2023 in “Surgical & Cosmetic Dermatology” The patient quickly recovered from hair loss caused by DRESS syndrome using topical minoxidil.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.