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.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
1 citations
,
March 1990 in “Archives of Dermatology” The letter suggests that psychiatric issues, not a sleep disorder, were likely the cause of a patient's self-inflicted leg ulcers.
145 citations
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March 2010 in “Fertility and Sterility” Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
March 2021 in “Revista da Associação Médica Brasileira”
883 citations
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August 2016 in “Nature Reviews Disease Primers” Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
1 citations
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January 2025 in “Women s Health Reports” Higher socioeconomic status improves quality of life and mental health in women with PCOS-like symptoms.
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.
22 citations
,
June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
13 citations
,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
January 2026 in “International Journal of Gynaecology Sciences” This review suggests redefining Polycystic Ovary Syndrome (PCOS) as PolyMetabolic Ovarian Syndrome (PMOS) to better capture its complex pathophysiology and systemic metabolic effects. The current focus on ovarian morphology often overlooks significant metabolic dysfunctions like insulin resistance and cardiovascular risks, leading to delayed diagnosis and inappropriate treatments. The review emphasizes the need for a comprehensive approach to management, including personalized nutrition, lifestyle changes, hormonal therapy, psychological support, and multidisciplinary care, to improve long-term health outcomes for women affected by this condition.
15 citations
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April 1997 in “Muscle & Nerve” 5 citations
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April 1997 in “Muscle & Nerve”
42 citations
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September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
2 citations
,
January 2012 in “PubMed” A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.
September 2002 in “Fertility and sterility” Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
April 2026 in “Middle European Scientific Bulletin” Early diagnosis and personalized treatment of PCOS improve quality of life and prevent complications.
Defective protein folding due to a mutation is key in ANE syndrome.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
April 2025 in “International Journal For Multidisciplinary Research” A rare ovarian tumor caused early puberty in a 3-year-old girl.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
1 citations
,
March 2018 in “BMJ case reports” Dilated pupils can be an early sign of HIV/AIDS.
87 citations
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July 2018 in “Nursing Clinics of North America” PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.