1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
22 citations
,
November 2020 in “International Journal of Environmental Research and Public Health” Hidradenitis suppurativa negatively affects patients' sexual lives and relationships, highlighting the need for better support and communication about sexual health.
January 2018 in “Springer eBooks” Hidradenitis Suppurativa is likely an autoinflammatory disease, and better understanding its causes could improve treatments.
June 1996 in “Journal of Dermatological Science”
1 citations
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April 2018 in “Revista da Sociedade Portuguesa de Dermatologia e Venereologia” Hidradenitis suppurativa is a chronic skin condition more common in women, linked to genetics and lifestyle factors, and associated with various other health issues.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
5 citations
,
February 2022 in “Supportive Care in Cancer” Older age is the main risk factor for hemorrhagic cystitis after stem cell transplants.
2 citations
,
September 2023 in “Journal of the American Academy of Dermatology” 2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
11 citations
,
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.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
9 citations
,
August 2021 in “Experimental dermatology” Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
4 citations
,
July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
February 2026 in “Pediatric Dermatology” 78 citations
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January 2013 in “Dermatology Online Journal” Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
15 citations
,
May 2017 in “Journal of Cellular Biochemistry” The hairless protein is important for skin, hair, and may influence cancer development.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
27 citations
,
December 2015 in “Mayo Clinic Proceedings” The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
1 citations
,
February 2020 in “Journal of the Canadian Association of Gastroenterology” An 8-year-old boy developed a rare condition after a liver transplant, which improved after changing his medication.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
11 citations
,
September 2000 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document concludes that awareness and understanding of hidradenitis suppurativa are increasing, but effective treatments are still needed.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.