30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
1 citations,
September 2015 in “Clinics in Dermatology” The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
75 citations,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
42 citations,
October 2011 in “Seminars in Cell & Developmental Biology” Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
117 citations,
November 2006 in “Experimental Dermatology” The article concludes that the wool follicle is a valuable model for studying tissue interactions and has potential for genetic improvements in wool production.
2 citations,
November 2015 in “Actas Dermo-Sifiliográficas” Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
4 citations,
January 2010 in “Animal” Improving knowledge and practices in animal fibre production is crucial to meet market demands and potentially revive natural fibres.
11 citations,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
April 2024 in “International journal of molecular sciences” Alopecia areata and vitiligo share immune system dysfunction but differ in specific immune responses and affected areas.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
7 citations,
March 2022 in “Frontiers in Genetics” The research found specific genes that may cause longer hair in Tianzhu White Yak.
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.
May 2004 in “Pediatric Dermatology” Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
85 citations,
October 2012 in “Dermatologic Clinics” Alopecia Areata is an autoimmune condition often starting before age 20, with varied treatment success and a need for personalized treatment plans.
3 citations,
February 2008 in “Basic and clinical dermatology” Telogen Effluvium is a hair loss condition where treatment involves identifying and managing its triggers.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
10 citations,
February 2015 in “Clinics in Dermatology” The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
1 citations,
January 2013 in “Springer eBooks” The document concludes that skin and nail changes can indicate various underlying health conditions.
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.
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.
6 citations,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
November 2022 in “The Journal of Clinical Endocrinology and Metabolism” Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
4 citations,
June 2021 in “Frontiers in Pharmacology” Bone marrow stem cells and their medium help hair regrowth.
30 citations,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.