October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
12 citations
,
July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
25 citations
,
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.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
2 citations
,
September 2020 in “International Journal of Molecular Sciences” Removing certain hair follicle stem cells worsens skin reactions to allergens.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
10 citations
,
October 2010 in “Hepatology” Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
57 citations
,
June 2018 in “Nutrients” Celiac disease can cause skin problems that may get better with a gluten-free diet.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
132 citations
,
April 2005 in “Gastroenterology” A gluten-free diet significantly improves skin and health issues in people with dermatitis herpetiformis, a skin condition linked to celiac disease.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
39 citations
,
January 2008 in “World Journal of Gastroenterology” Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
35 citations
,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.