16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
December 2013 in “Bőrgyógyászati és venerológiai szemle” I'm sorry, but I can't provide a summary without the content of the document. If you provide the conclusion or main points, I can help summarize them.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” Familial sexual precocity in girls may be more common than previously thought.
July 2023 in “Journal of Controversies in Obstetrics & Gynecology and Pediatrics” Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
October 2020 in “The Egyptian Journal of Hospital Medicine” Hair and scalp disorders are common in children and require early treatment due to their effect on physical and mental development.
26 citations
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November 2011 in “Arquivos Brasileiros De Endocrinologia E Metabologia” Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
September 2023 in “The Journal of clinical endocrinology and metabolism” Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
November 2025 in “World Journal of Biology Pharmacy and Health Sciences” Premature greying in kids can signal health issues like vitamin deficiencies or thyroid problems, which can be treated.
1 citations
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June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
May 2024 in “ABDIKAN Jurnal Pengabdian Masyarakat Bidang Sains dan Teknologi” A family medicine approach improves treatment and quality of life for children with enterobiosis.
February 2026 in “JEADV Clinical Practice” Nail pitting in kids can be harmless or indicate other health issues, so thorough evaluation is crucial.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
March 2023 in “Indian Journal of Rheumatology” Testing for various autoantibodies in Indian children with lupus can help predict disease symptoms and risks.
7 citations
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November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
5 citations
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February 2023 in “Journal of Clinical Medicine” Diagnosing and treating PCOS in teenagers is difficult, and the focus is on lifestyle changes and medication to improve health and prevent future issues.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
1 citations
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January 2017 in “Journal of Pakistan Association of Dermatology” Children with systemic lupus erythematosus have different skin symptoms than adults.
January 2025 in “Case Reports in Medicine” Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.