5 citations
,
September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
November 2014 in “The Pediatric Infectious Disease Journal” The child was diagnosed with a skin condition involving inflamed hair follicles.
32 citations
,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
108 citations
,
July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
15 citations
,
April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
March 2021 in “Revista da Associação Médica Brasileira”
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
2 citations
,
January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
12 citations
,
September 2012 in “Pediatric Dermatology” The boy's skin condition improved significantly with a specific ointment after other treatments showed only mild results.
2 citations
,
July 2016 in “Veterinary dermatology” Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
66 citations
,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
17 citations
,
March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
42 citations
,
July 2014 in “Journal of biological chemistry/The Journal of biological chemistry” Heparan sulfate is important for hair growth, preventing new hair formation in mature skin, and controlling oil gland development.
12 citations
,
January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
26 citations
,
May 1988 in “Pediatric dermatology” Eruptive vellus hair cysts can run in families.
July 2024 in “JAAD Case Reports” Isotretinoin may effectively treat hereditary hypotrichosis simplex, a rare hair loss condition.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
29 citations
,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.