March 2023 in “International journal of integrated medical research” Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
52 citations,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
31 citations,
January 1981 in “Pharmacology & Therapeutics” Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
14 citations,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
13 citations,
September 2011 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.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
1 citations,
October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
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.
33 citations,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
2 citations,
August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
109 citations,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
100 citations,
March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
7 citations,
April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.