July 2015 in “NEJM Journal Watch” Diagnosing and treating PCOS in young people is difficult.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
2 citations
,
September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
14 citations
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January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
3 citations
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January 2013 in “Annals of Tropical Medicine and Public Health” About 15% of adolescent girls in a region of India have Polycystic Ovarian Syndrome, which is more common in those born by cesarean, with wisdom teeth, or with central obesity.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
12 citations
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November 2024 in “Journal of Ovarian Research” Certain inflammatory factors may increase or decrease the risk of developing PCOS.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
January 2019 in “ISGE series” The document concludes that effectively managing PCOS requires a multifaceted approach.
40 citations
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December 2010 in “Human Genetics”
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
September 2025 in “PubMed” Colectomy led to hair regrowth in a Crohn's patient with alopecia areata.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
The conclusion is that a more comprehensive and precise approach is needed for diagnosing PCOS to address its broader health risks.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
1 citations
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July 2025 in “BMC Medicine” PCOS affects 11% of women, highlighting the need for standardized diagnosis.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
April 2016 in “Journal of The American Academy of Dermatology” Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
97 citations
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February 2007 in “Clinical Obstetrics and Gynecology” The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
2 citations
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February 2014 in “Journal of Crohn's and colitis” Some IBD patients on anti-TNFs developed severe skin issues, but ustekinumab helped.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.