August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
14 citations
,
June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
11 citations
,
May 2023 in “Journal of Cancer Research and Clinical Oncology” CRISPR/Cas systems show promise for cancer treatment by targeting miRNAs, but delivery and specificity challenges remain.
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
36 citations
,
October 2016 in “Medical mycology” PCR-ELISA is better for identifying the fungus causing scalp infections in Ugandan children than traditional methods.
25 citations
,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
14 citations
,
September 2007 in “Steroids” The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
9 citations
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February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
4 citations
,
January 2015 in “Journal of microbial & biochemical technology” Biotin helps regulate proteins in the blood, which may explain its role in hair growth.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
January 2015 in “Scientific Works. Series C, Veterinary Medicine” Canine demodicosis diagnosis is complex due to varied symptoms and atypical presentations.
16 citations
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September 2018 in “Clinical Biochemistry” The document concludes that more research is needed to fully understand the causes of PCOS.
March 2024 in “Frontiers in genetics” Different types of fibroblasts play specific roles in wound healing and cancer, which could help improve treatments.
January 2023 in “Brazilian Journals Editora eBooks” Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
December 2025 in “Babcock University Medical Journal” CD27 and IL-35 can help diagnose alopecia areata linked to bacterial infections.
December 2025 in “Italian Journal of Anatomy and Embryology” Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
7 citations
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July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
16 citations
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February 2018 in “European Journal of Endocrinology” Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
39 citations
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July 2013 in “Journal of dermatological science” Hair microRNAs could be effective biomarkers for diagnosing scleroderma.