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.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
18 citations
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January 2021 in “Skin Research and Technology” High-frequency ultrasound effectively measures basal cell carcinoma depth.
2 citations
,
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.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
4 citations
,
October 2006 in “Anais Brasileiros de Dermatologia” Contact dermatitis treatment for alopecia areata can lead to temporary hair loss.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
4 citations
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February 2022 in “PeerJ” Hair follicle stem cell transplants can reverse liver cirrhosis by blocking harmful cell activation.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
11 citations
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June 2010 in “Medical Molecular Morphology”
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
35 citations
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October 2014 in “Wound Repair and Regeneration” The model helps understand scar contraction and develop new treatments.
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
August 2020 in “Research Square (Research Square)” Hair follicle stem cells may help treat strokes.
30 citations
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June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
31 citations
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September 2020 in “Stem Cell Research & Therapy” Hair follicle stem cells may help repair the brain after a stroke.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.