Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
July 2023 in “International journal of physiology” Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
November 2022 in “Orphanet Journal of Rare Diseases” Long-term use of androgens can help manage Hereditary Angioedema (HAE) but may cause serious side effects, so alternative treatments with fewer side effects are being considered.
January 2016 in “Dermatology online journal” A 15-year-old girl has a benign skin tumor on her neck.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
138 citations,
March 2007 in “Experimental cell research” Only a few hair-specific keratins are linked to inherited hair disorders.
132 citations,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
86 citations,
January 1996 in “Clinics in dermatology” Hair can be damaged by daily routines, but protein-based products can protect and improve it.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
52 citations,
January 2017 in “Dermatology” Swiss experts recommend specific guidelines for diagnosing and treating hidradenitis suppurativa to improve patient care.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
44 citations,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
39 citations,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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.
37 citations,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
36 citations,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
26 citations,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hair graying may be caused by stem cell depletion from stress or melanocyte damage.
20 citations,
November 2014 in “JAMA dermatology” The 810-nm diode laser improves skin texture in keratosis pilaris but not redness.
19 citations,
April 2016 in “Case Reports in Dermatology” Nilotinib can cause keratosis pilaris, a skin condition.
17 citations,
November 2021 in “Journal of Cosmetic Dermatology” Combination therapies for androgenetic alopecia work best but can have significant side effects and costs.