November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
66 citations,
December 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.
10 citations,
August 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
26 citations,
March 2014 in “Journal of cutaneous medicine and surgery” Topical vitamin D is useful for some skin conditions but not effective for others, and more research is needed.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
1 citations,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
1 citations,
December 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
23 citations,
April 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
8 citations,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
23 citations,
April 2014 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
9 citations,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
25 citations,
August 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
4 citations,
April 2014 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
4 citations,
May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
3 citations,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.