13 citations
,
October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
2 citations
,
February 2020 in “Journal of Investigative Surgery” Flutamide-induced hypospadias in rats slows down early wound healing.
February 2023 in “Benha Journal of Applied Sciences” R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
January 2019 in “Dermatologic Surgery” 28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
19 citations
,
December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
16 citations
,
December 2018 in “ACS Biomaterials Science & Engineering” The new patch made of cell matrix and a polymer improves wound healing and supports blood vessel growth.
6 citations
,
May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
12 citations
,
May 2020 in “Dermatology and therapy” A young woman had a rare skin reaction to a medication for her joint disease, and a combination therapy improved her condition.
11 citations
,
July 2022 in “International Journal of Molecular Sciences” Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
3 citations
,
February 1983 in “Journal of Investigative Dermatology” Hair plucking quickly increases antizyme, reducing a specific enzyme activity in rats.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
10 citations
,
June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Newly born mesenchymal cells quickly spread out in response to tissue tension during early development.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
17 citations
,
April 2009 in “Andrologia” A boy's early puberty caused by a testicular tumor returned to normal after surgery.
24 citations
,
December 1990 in “Pediatric Dermatology” Tight hairstyles like ponytails may cause hair casts by affecting scalp circulation and causing inflammation.