2 citations
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July 2021 in “The Journal of Sexual Medicine” Gene expression differences in PFS patients suggest a potential organic cause for symptoms.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
11 citations
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December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
3 citations
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September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
5 citations
,
June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
October 2020 in “International Journal of Research in Dermatology” The review suggests more research is needed to understand Frontal fibrosing alopecia, a condition causing hairline recession in postmenopausal women.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
2 citations
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December 2018 Alopecia frontal fibrosante affects facial vellus hair and can be diagnosed with dermatoscopy.
1 citations
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May 2024 in “Dermatology and Therapy” Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
September 2018 in “The Journal of Urology” 24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
53 citations
,
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.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
April 2023 in “Tikrit Journal of Pharmaceutical Sciences” Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
December 2023 in “JEADV Clinical Practice” Brownish halos around axillary hair can help diagnose frontal fibrosing alopecia.
September 2023 in “International Journal of Dermatology” Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
46 citations
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January 2015 in “Journal of The American Academy of Dermatology” Trichoscopy helps diagnose and assess the severity of Frontal Fibrosing Alopecia.
November 2024 in “Dermatology and Therapy” Dermatologists should carefully choose treatments for FFA to avoid worsening the condition.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
8 citations
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February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” A new system helps better diagnose and treat female androgenization conditions like PCOS.