December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
Lichen planopilaris can occur with multiple autoimmune diseases.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
March 2023 in “İnönü Üniversitesi Sağlık Hizmetleri Meslek Yüksek Okulu Dergisi” Obesity is linked to higher metabolic syndrome and LH/FSH ratios, but no significant differences exist among PCOS phenotypes.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
5 citations
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March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
9 citations
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February 2012 in “Social Semiotics” The document concludes that modern photo stories help represent and challenge how breast cancer affects women's identities and societal norms.
3 citations
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May 2010 in “Victorian literature and culture” The conclusion is that advertising is a key part of "The Pickwick Papers," reflecting the consumer culture of Victorian Britain.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
December 2008 in “The Internet journal of surgery” A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
1 citations
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July 2018 in “JAMA dermatology” Poliosis causes white hair patches due to lack of melanin.
April 2023 in “Elsevier eBooks” PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
2 citations
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April 2021 in “Reproductive health of woman” Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
October 2022 in “Aesthetic Cosmetology and Medicine” PCOS often causes skin problems due to hormonal and metabolic imbalances.