1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
October 2021 in “Revista Medicina Cutánea Ibero-Latino-Americana” PRIDE syndrome helps identify skin side effects from EGFR inhibitors like erlotinib.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
1 citations
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December 1997 in “Archives of dermatology” A 34-year-old woman had itchy black bumps on her face due to a condition called trichostasis spinulosa.
21 citations
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January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
February 2021 in “International Journal of Science and Research (IJSR)” A higher testosterone/dihydrotestosterone ratio in PCOS patients may indicate worse metabolic health.
January 2023 in “Integrative Journal of Medical Sciences” A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
January 2015 in “The Encyclopedia of Clinical Psychology” Habit reversal training effectively treats hair-pulling disorder in both adults and children.
December 2020 in “American Journal of Transplantation” Early recognition and treatment of VATS in transplant patients improve outcomes.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
March 2025 in “International Journal of Trichology” Vigorous rubbing of herbal powder on the scalp caused hair damage and loss.
1 citations
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January 2010 in “SRX Pharmacology” Bupropion SR may help treat trichotillomania.
January 1999 in “대한피부과학회지” Trichotillomania is more common in young females and often linked to stress and psychiatric conditions, with hair loss and increased catagen hair observed.
April 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
52 citations
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May 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” Parathyroid hormone-related protein helps control hair growth phases in mice.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
5 citations
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September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
1 citations
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September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
May 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.