6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
62 citations
,
July 2013 in “American Journal of Clinical Dermatology” Alopecia areata patients have higher oxidative stress and lower antioxidant levels.
3 citations
,
January 2015 in “Turkiye Klinikleri Journal of Medical Sciences” Corticosteroids may not effectively control oxidative stress in alopecia areata, possibly leading to relapses.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
1 citations
,
June 2013 in “Semina Ciências Agrárias” High iron, zinc, and manganese levels in soil hinder copper absorption in cattle, causing deficiency.
28 citations
,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
29 citations
,
July 1996 in “Acta Paediatrica” Biotin should be added to Japanese amino acid formula to prevent deficiency.
3 citations
,
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.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
38 citations
,
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.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
9 citations
,
January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
6 citations
,
April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
169 citations
,
June 1998 in “Journal of Investigative Dermatology” Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
February 2026 in “NeuroSci” Finasteride and dutasteride may cause depression and anxiety, especially in younger men.
3 citations
,
December 2010 in “Annals of tropical paediatrics” A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
22 citations
,
June 2010 in “Experimental Dermatology” Lower MC2R expression may contribute to alopecia areata.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
January 2020 in “Turkish Journal of Dermatology” Zinc deficiency was the real cause of the boy's symptoms, not a skin infection.