May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
6 citations
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May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
3 citations
,
June 2017 in “Methods” Researchers created a model to understand heart aging, highlighting the role of microRNAs and identifying key genes and pathways involved.
3 citations
,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
286 citations
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August 2007 in “Journal of Clinical Investigation” Alopecia areata is an autoimmune disease where T cells attack hair follicles.
249 citations
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November 2003 in “Clinical endocrinology” Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
September 2014 in “Springer eBooks” Aging causes hair to gray and thin, with the timing of graying varying by race, and factors like oxidative stress and genetics can lead to hair loss.
55 citations
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October 2019 in “Dermatology and therapy” Drugs targeting the JAK/STAT pathway can improve atopic dermatitis but vary in effectiveness for vitiligo and alopecia areata, with generally mild safety concerns.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
11 citations
,
May 2009 in “Medical Hypotheses” Male pattern baldness is an unintended side effect of the body's use of androgens for muscle growth, especially in those genetically prone to it.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
Hair loss in African American women, caused by hair care, genetics, and environment, needs more research for better treatment.
19 citations
,
January 2015 in “Current problems in dermatology” Ultraviolet rays damage hair, smoking may cause hair loss, and good nutrition is important for hair health, but genetics mainly decide hair thickness.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
Diagnosing and managing monilethrix is harder when it occurs with other hair loss conditions.
Diagnosing and managing monilethrix is harder when it occurs with other hair loss conditions.
March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
August 2025 in “Journal of Cosmetic Dermatology” 5% topical minoxidil can significantly improve hair growth in children with Marie Unna hereditary hypotrichosis.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.