April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
April 2019 in “Journal of Investigative Dermatology” Low-level laser therapy helps hair growth and reduces hair loss with few side effects.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
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.
91 citations
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August 2019 in “Frontiers in Microbiology” RpoS helps Borrelia burgdorferi survive in hosts and adapt to different environments.
90 citations
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August 2006 in “British Journal of Dermatology” PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
11 citations
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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.
71 citations
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June 2006 in “Human Reproduction” Women with PCOS who have low SHBG are more likely to have low good cholesterol and metabolic syndrome.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
June 2021 in “Journal of The American Academy of Dermatology” The "spade sign" is a highly specific indicator for diagnosing acne keloidalis.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
November 2020 in “Journal of The American Academy of Dermatology” Ankle braces reduce motion, while external focus improves hip and knee movements.
73 citations
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June 2008 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
June 2025 in “Revista Brasileira de Fisioterapia Pelvica” The Broad Ligament Maneuver effectively relieved PCOS symptoms and restored ovarian function.
13 citations
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November 1985 in “International Journal of Dermatology” The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
2 citations
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June 2024 in “Anti-Aging Eastern Europe” PCOS symptoms vary by age, affecting diagnosis and treatment.
37 citations
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January 2003 in “Journal of the European Academy of Dermatology and Venereology” Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
15 citations
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May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” Familial sexual precocity in girls may be more common than previously thought.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.