October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
3 citations
,
May 2014 in “Urologia Journal” 5ARIs lower PSA levels, but other tests are needed to avoid missing aggressive prostate cancer.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
September 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Alopecia patients have a less active liver monoxygenase system, which can be treated with photochemotherapy and system inducers.
37 citations
,
June 2018 in “Clinical and Experimental Medicine” People with alopecia areata often have lower vitamin D levels and more inflammation, suggesting vitamin D might be involved in the condition.
4 citations
,
August 2005 in “Clinical Infectious Diseases” The man's symptoms improved after treating his scurvy with high-dose vitamin C.
17 citations
,
October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
88 citations
,
March 2004 in “Journal of Investigative Dermatology”
2 citations
,
June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
1 citations
,
November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
13 citations
,
February 2020 in “CHEST Journal” Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
101 citations
,
August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
October 1940 in “Clinical and Experimental Optometry” Vitamin A deficiency can cause eye problems and other health issues.
March 2024 in “Skin research and technology” High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.