Patients on long-term hemodialysis often experience severe itching and various skin and nail problems.
April 1963 in “Archives of Dermatology” Dermatological conditions are complex and treatments often have mixed results.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
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.
66 citations,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
16 citations,
April 2000 in “Journal of Investigative Dermatology” The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
2 citations,
January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
1 citations,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
November 2021 in “Clinical, cosmetic and investigational dermatology” An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
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.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
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.
108 citations,
November 1980 in “British Journal of Dermatology” Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
46 citations,
September 2010 in “Veterinary Dermatology” Many alpacas have skin diseases, with bacterial infections being the most common.
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.
June 2006 in “Experimental dermatology” The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
31 citations,
May 2013 in “Clinical Cosmetic and Investigational Dermatology” Proper skin care and dermocosmetics improve skin issues in diabetes patients.