January 2026 in “International Journal of Gynaecology Sciences” PCOS should be redefined as PMOS to better address its complex metabolic issues and improve treatment.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
51 citations
,
October 1981 in “British Journal of Dermatology” Some patients developed skin inflammation after obesity surgery, and a medication called dapsone helped treat it.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
January 2001 in “Cambridge University Press eBooks” Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
16 citations
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January 2012 in “Indian Journal of Endocrinology and Metabolism” The document suggests that there might be an autoimmune link between polycystic ovary syndrome and Graves' disease.
Early detection and comprehensive treatment of PCOS are crucial due to its long-term health impacts and associated risks.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
August 2008 in “Obstetrics & gynecology science” Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
1 citations
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
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.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
June 2025 in “International Medical Case Reports Journal” Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.
3 citations
,
November 2016 in “Clinical Pediatrics” A girl with Crohn's disease developed hair loss from her medication, which improved with treatment but later returned.
37 citations
,
October 2024 in “JAMA Network Open” PCOS is common among Indian women, often with metabolic issues, needing better management strategies.
8 citations
,
January 2013 in “Australasian journal of dermatology” Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
4 citations
,
February 2011 in “Annals of internal medicine” The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.