1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
1 citations
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August 2015 in “PubMed” A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
46 citations
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June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
7 citations
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January 2013 in “Supportive care in cancer” Hair mass index is a precise way to measure hair loss in chemotherapy patients.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
March 2026 in “Dermatopathology” A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
94 citations
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July 1991 in “Clinical endocrinology” Cyproterone acetate at 2mg daily is as effective as higher doses for treating excessive hair growth in women.
3 citations
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August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
2 citations
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November 2022 in “Acta crystallographica. Section B, Structural science, crystal engineering and materials./Acta crystallographica. Section B, Structural science, crystal engineering and materials” A new platinum complex was made and studied, which might help fight cancer better.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
11 citations
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May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” Identical p53 gene mutations in different cancers suggest the need for careful treatment.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
November 2025 in “Cochrane Database of Systematic Reviews” Cyproterone acetate works similarly to other treatments for hirsutism, but more research is needed.
38 citations
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March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
9 citations
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January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
4 citations
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September 2012 in “Journal of dermatological science” The hair follicle's connective tissue is a key source of a certain collagen in human scalp skin.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
99 citations
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September 2007 in “The American journal of pathology” Chemotherapy damages hair follicles, causing hair loss and other cellular changes.
2 citations
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August 2020 in “Clinical, Cosmetic and Investigational Dermatology” The hair-growth formula with L-cystine helps protect and grow hair cells.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
39 citations
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May 2004 in “Clinics in Dermatology” The document concludes that treatment for cutaneous T-cell lymphoma should be customized to each patient's disease stage, balancing benefits and side effects, with no cure but many patients living long lives.
64 citations
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March 1984 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” Cyproterone acetate effectively reduced hair growth in hirsute patients by lowering androgen levels and altering androgen metabolism.
May 2018 in “Dermatologic Surgery”
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.