11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
February 2026 in “Pediatric Dermatology” September 1978 in “PubMed” Chondroitin sulphate is more abundant than hyaluronic acid in skin and hair samples, except in gamma-keratosis.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
30 citations
,
September 2000 in “Journal of Dermatological Science” Fatty acid composition in human skin, mouth, and hair cells varies with keratinization, and cultured cells show essential fatty acid deficiency.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
Some goats get rare skin diseases from not enough vitamin E, selenium, or zinc, but they're usually still healthy.
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.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
Carbohydrates are crucial for skin development and may help understand skin conditions.
1 citations
,
December 1997 in “Archives of dermatology” A 34-year-old woman had itchy black bumps on her face due to a condition called trichostasis spinulosa.
83 citations
,
May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
April 1977 in “Pediatric Research” 99 citations
,
July 1996 in “Journal of Investigative Dermatology” 21 citations
,
January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
42 citations
,
January 2002 in “Skin Pharmacology and Physiology” Reconstructed skin models are useful for studying how skin processes certain chemicals.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
182 citations
,
January 2000 in “Drug Development Research” Ethosomal carriers improve drug delivery through the skin better than traditional methods.
7 citations
,
May 2010 in “Drug Delivery” Retinoic acid and DMSO improve gene delivery to mouse skin for potential hair and skin disease treatment.
Key genes and pathways influence cashmere production in goats.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
30 citations
,
February 2008 in “Journal of Investigative Dermatology”
July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
Polarized microscopy helps identify hair irregularities in genetic disorders.
35 citations
,
September 1994 in “Journal of Investigative Dermatology”