132 citations
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August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
June 2023 in “Lithuanian University of Health Sciences”
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
31 citations
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April 2016 in “Journal of the American Academy of Dermatology” 13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
4 citations
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April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
8 citations
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August 2016 in “Annales de Dermatologie et de Vénéréologie” A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
5 citations
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November 2023 in “Journal of Investigative Dermatology”
6 citations
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April 2013 in “International Journal of Dermatology” Dermoscopy helps diagnose unusual skin lesions like osteonevus of Nanta and can prevent misdiagnosis of serious conditions.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
February 2019 in “Dermatologic Surgery” 8 citations
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August 1970 in “JAMA” Excessive vitamin A can cause symptoms that mimic serious brain conditions.
4 citations
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November 2013 in “Journal of IMAB - Annual Proceeding (Scientific Papers)” A rare adrenal tumor in a 9-year-old girl was successfully treated with surgery.
2 citations
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January 2022 in “Skin Pharmacology and Physiology” Dexamethasone increases the activity of androgen receptors in human skin cells, which may link it to certain types of hair loss.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
2 citations
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November 2020 in “The American journal of dermatopathology/American journal of dermatopathology” Sweat duct differentiation in trichilemmal cysts is very rare and can be successfully removed with surgery.
Skin changes can reveal serious hormone-related diseases, helping save lives.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
155 citations
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October 2002 in “The FASEB Journal” Heart-specific steroid metabolism is crucial in cardiac hypertrophy.
July 2022 in “International Medical Case Reports Journal” The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.