1 citations,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
Losing weight and eating better are key to managing metabolic syndrome and its related conditions.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
175 citations,
November 2009 in “PLOS ONE” Women look young for their age due to larger lips, less sun damage, and genes that prevent gray hair and wrinkles.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
69 citations,
June 2017 in “Experimental Biology and Medicine” Advanced human skin models improve drug development and could replace animal testing.
64 citations,
March 2017 in “Nature communications” Researchers found 63 genes linked to male-pattern baldness, which could help in understanding its biology and developing new treatments.
43 citations,
September 2014 in “Molecular Plant” CLE40 and CRN/CLV2 pathways have opposite effects on root growth in Arabidopsis.
39 citations,
July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
28 citations,
July 2017 in “Journal of Endocrinological Investigation” Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
18 citations,
June 2017 in “Journal of The American Academy of Dermatology” Trichoscopy helps diagnose frontal fibrosing alopecia, even with unusual patterns.
12 citations,
March 2015 in “Pediatric Dermatology” Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
October 2021 in “Dermatology practical & conceptual” A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
January 2017 in “Springer eBooks” The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
430 citations,
July 2002 in “Journal of Endocrinology” The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
157 citations,
August 2010 in “Lupus” The document concludes that recognizing and treating cutaneous lupus erythematosus early is crucial for managing the skin and potential systemic symptoms.
92 citations,
December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
82 citations,
October 2019 in “Frontiers in Immunology” Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
71 citations,
November 2009 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” PCOS in teens is hard to diagnose, linked to genetics and lifestyle, and managed with weight loss and medication.