May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
1 citations
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July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
January 2026 in “Frontiers in Immunology” Timely treatment of eosinophilic asthma in rheumatic disease patients can prevent organ damage.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
Naproxen can cause serious lung issues, but high-dose aspirin might be safer.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
143 citations
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September 1991 in “Archives of Dermatology” Generalized pustular psoriasis patients often need strong medication and careful treatment due to flare-ups and complications.
34 citations
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August 2007 in “PubMed” Balding in men is strongly linked to high blood pressure and family history.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
7 citations
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January 2013 in “Egyptian Journal of Dermatology and Venereology” Men with androgenetic alopecia may have higher blood pressure, suggesting early screening for hypertension.
April 2017 in “Turkish Journal of Pediatric Disease” Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
Integrating ABI screening in clinics can improve patient care for those at risk of peripheral artery disease.
97 citations
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January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
April 2018 in “Journal of Investigative Dermatology” People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
Equine Cushing's disease in horses causes hormonal imbalance, leading to symptoms like abnormal hair growth and requires lifelong treatment with pergolide.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
May 2012 in “CRC Press eBooks” Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
General surgeons in India need to manage peripheral arterial disease due to a shortage of vascular surgeons.
May 2023 in “Problems of Endocrinology” Men with high testosterone may have higher morning blood pressure, unlike those with high DHT.
38 citations
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March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
10 citations
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October 2015 in “Journal of the International Association of Providers of AIDS Care” A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
4 citations
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January 2017 in “Annals of Dermatology” Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.