11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
5 citations,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
3 citations,
May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
1 citations,
July 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
May 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
13 citations,
January 2012 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
7 citations,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
124 citations,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
16 citations,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
7 citations,
August 2017 in “PloS one” Key genes linked to hair growth and cancer were identified in hairless mice.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
36 citations,
December 2021 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Two drugs, ritlecitinib and brepocitinib, improved scalp hair loss condition markers.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
15 citations,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
14 citations,
March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
5 citations,
September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
18 citations,
July 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
13 citations,
April 2007 in “British Journal of Dermatology” EF and PXE not closely related.
5 citations,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
5 citations,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
4 citations,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
2 citations,
July 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.