67 citations
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September 2001 in “American Journal Of Pathology” Inhibiting ODC can prevent UV-induced skin cancer.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
11 citations
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June 2024 in “Clinical ophthalmology” High levels of Demodex mites can cause eye and skin problems.
November 2021 in “Transplantation direct” A 68-year-old man improved after being correctly diagnosed and treated for a skin condition caused by mites, following a stem cell transplant.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
8 citations
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December 1997 in “International Journal of Dermatology” The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
1 citations
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May 2013 in “Oncology Times” ODAC members faced intense pressure but prioritized scientific evidence in drug approval decisions.
2 citations
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May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
5 citations
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April 2025 in “Journal of the European Academy of Dermatology and Venereology” Control inflammation and prevent further hair loss in folliculitis decalvans using medications and therapies.
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November 1998 in “Journal of The European Academy of Dermatology and Venereology” Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
1 citations
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July 2025 in “Journal of Investigative Dermatology” 87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
April 2024 in “African Journal of Biological Sciences” The treatment led to significant hair regrowth in a lupus patient.
January 2025 in “International Journal of Applied and Basic Medical Research” Effective treatment of folliculitis decalvans requires accurate diagnosis and more research for better therapies.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
13 citations
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January 2012 in “Case reports in dermatological medicine” An 84-year-old man got a rare scalp condition from using imiquimod cream, which was cured with systemic steroids.
The conclusion is that a more comprehensive and precise approach is needed for diagnosing PCOS to address its broader health risks.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
4 citations
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January 2018 in “General Physiology and Biophysics” The steroids allopregnanolone and allotetrahydrodeoxycorticosteron worsened absence seizures in rats.
4 citations
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June 2021 in “Wounds-a Compendium of Clinical Research and Practice” Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.