6 citations
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January 2015 in “International journal of reproduction, contraception, obstetrics and gynecology” More than half of the women with PCOS in Southern India had Metabolic Syndrome, with large waist circumference being the most common feature.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
42 citations
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April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
10 citations
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January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
13 citations
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January 2012 in “International Journal of Trichology” Most hirsutism patients had idiopathic hirsutism or PCOS, with hormonal imbalances and signs like acne and irregular periods.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
15 citations
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July 1975 in “British journal of dermatology/British journal of dermatology, Supplement” Graham-Little syndrome causes scarring hair loss and skin bumps.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
September 2021 in “Journal of pharmaceutical research international” The conclusion is that hirsutism is strongly linked to PCOS and higher levels of certain hormones, but not to DHEAS, prolactin, cortisol, or TSH.
3 citations
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May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
35 citations
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April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” Different types of hidradenitis suppurativa need specific treatments based on unique skin cell issues.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
10 citations
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November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
11 citations
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August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
December 2024 in “Turkish Society of Clinical Biochemistry” Higher BPA levels may be linked to idiopathic hyperandrogenemia in women.
6 citations
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April 2013 in “British Journal of Dermatology” Hidradenitis suppurativa is likely caused by blocked hair follicles, not apocrine glands.
9 citations
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September 2024 in “Journal of Clinical Medicine” Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
146 citations
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February 2012 in “Journal of Clinical Investigation” Blocking Hedgehog signaling offers new treatment options for advanced basal cell carcinoma.