October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
1 citations
,
October 2013 in “Expert Review of Dermatology” Diagnosing alopecia areata is challenging and requires careful examination and various tests to distinguish it from other hair loss types.
92 citations
,
May 2014 in “The American Journal of Medicine” The conclusion is that early diagnosis and a multi-system treatment approach are crucial for managing PCOS and its associated health risks.
85 citations
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June 2006 in “Best Practice & Research Clinical Endocrinology & Metabolism” The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
1 citations
,
January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
1 citations
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January 2024 in “Journal of clinical medicine” Early recognition and treatment of tinea capitis are crucial to prevent severe scalp issues and prolonged therapy.
1 citations
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May 2016 in “Current Opinion in Pediatrics” Children's hair loss can be caused by various factors and should be treated with appropriate, age-specific methods and psychological support.
April 2025 in “Middle East Fertility Society Journal” Reference values for nine hormones were established to help diagnose PCOS.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
September 2024 in “PubMed” Hair loss can be treated based on its type and cause, improving quality of life.
January 2018 in “Refubium (Universitätsbibliothek der Freien Universität Berlin)” New nanocarriers were developed for safer, targeted drug delivery and diagnostics, showing promise for future medical use.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
4 citations
,
January 2025 in “Dermatologica Sinica” Experts recommend personalized treatment plans for alopecia areata, using corticosteroids and minoxidil for mild cases, and stronger medications for severe cases.
4 citations
,
January 2024 in “International Journal of Environment Agriculture and Biotechnology” Women with PCOS can lead healthy lives with proper diagnosis and treatment.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
March 2022 in “Wound practice & research” New treatments for alopecia areata show promise, but standardized guidelines are needed.
August 2021 in “Journal of skin and stem cell” Skin symptoms could help in early COVID-19 diagnosis but more research is needed to confirm their reliability.
January 2014 in “Pathology” Non-scarring hair loss can be diagnosed with two 4mm punch biopsies, one cut vertically and the other transversely.
13 citations
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April 2022 in “Journal of Mind and Medical Sciences” IBD treatment is complex and requires personalized approaches due to varying patient responses.