2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
June 2025 in “British Journal of Dermatology” Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
38 citations
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July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
7 citations
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August 2025 in “European Journal of Endocrinology” Long-term use of calcineurin inhibitors in transplant patients can cause hormone issues that can be managed with proper care.
28 citations
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October 1984 in “Journal of Investigative Dermatology” January 2000 in “Linchuang pifuke zazhi” The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
January 2006 in “Arquitectos: información del Consejo Superior de los Colegios de Arquitectos de España” Curcumin improves blood sugar and cholesterol in PCOS patients.
4 citations
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September 2011 in “Journal of the American Academy of Dermatology” A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
11 citations
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December 2017 in “Diabetes Therapy” Recognizing and treating early signs of insulin resistance can help prevent type 2 diabetes and improve life quality.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
March 2025 in “Molecular Neurobiology” 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.
5 citations
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October 2023 in “Phytotherapy Research” Dauricine may help treat certain brain cancers by reducing cancer cell growth and promoting cell death.
January 2020 in “Frontiers in Medical Case Reports” A dog developed skin issues from too many steroids, but reducing steroids and using a specific treatment fixed the problems.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating Sonic Hedgehog signaling in cancer stroma may help treat basal cell carcinoma.
75 citations
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
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.
January 2025 in “Case Reports in Endocrinology” Accurate diagnosis of rare hyperandrogenism conditions requires detailed testing and sometimes invasive procedures.
February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
July 1993 in “学術講演梗概集. A, 材料施工,防火,海洋,情報システム技術” Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
November 2004 in “John Wiley & Sons, Ltd eBooks” Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.