May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
43 citations
,
July 2017 in “International journal of pharmaceutics” Using β-cyclodextrin derivatives improves the solubility and bioavailability of steroidal drugs.
1 citations
,
August 2025 in “The Egyptian Journal of Internal Medicine” BMI is a simple, cost-effective tool for screening obesity and related diseases.
3D-ultrasound can non-invasively detect and predict alopecia areata phases and outcomes.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
17 citations
,
August 2010 in “Journal of the American Academy of Dermatology” Unroofing is an effective, less invasive, and cost-effective surgery for hidradenitis suppurativa with low recurrence and improved patient quality of life.
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.
March 2024 in “Journal of drugs in dermatology” HASHA is a safe and effective option for chin augmentation.
3 citations
,
January 2025 in “JID Innovations” Hidradenitis suppurativa tunnels worsen the disease and often need surgery because current treatments are not very effective.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
IL-26 has antimicrobial and pro-inflammatory effects in the chronic skin condition Hidradenitis Suppurativa.
45 citations
,
January 2021 in “Stem Cell Research & Therapy” The combination of stem cell medium and hydrogel effectively reduces and improves hypertrophic scars.
8 citations
,
August 2015 in “Experimental Dermatology” Hidradenitis suppurativa may involve gut and oral bacteria, suggesting targeted treatments could help.
1 citations
,
November 2019 in “Actas Dermo-Sifiliográficas” The Spanish Hair-Specific Skindex-29 questionnaire effectively measures the quality of life impact of hair loss in Spanish-speaking women.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
4 citations
,
October 2022 in “American journal of physiology. Heart and circulatory physiology” Higher DHT levels are linked to worse heart changes in severe aortic valve stenosis patients.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
50 citations
,
November 2020 in “Physiology & behavior” People with depression often have higher hair cortisol levels, while those with PTSD tend to have lower levels, but more research is needed to understand this fully.
29 citations
,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
January 2026 in “In Vivo” People with hidradenitis suppurativa have a higher risk of kidney stones.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
1 citations
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July 2015 in “Cambridge University Press eBooks” Testosterone therapy can improve sexual function in women but long-term safety is unclear.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.