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.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
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
,
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.
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.
13 citations
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March 2008 in “Journal of the European Academy of Dermatology and Venereology” Triamcinolone acetonide therapy for hair loss may cause a skin condition called linear lichen planus.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
A new genetic mutation was found causing hair and eye issues in a boy.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
3 citations
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February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
2 citations
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October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.