37 citations,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
69 citations,
September 1991 in “Journal of Surgical Research” Understanding how fetal wounds heal could help improve healing in adults.
724 citations,
April 2004 in “Lancet Oncology” Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.
45 citations,
April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
17 citations,
May 2013 in “Oral and Maxillofacial Surgery Clinics of North America” The document concludes that careful surgical methods and choosing the right materials are key for successful scalp, skull, and frontal sinus reconstruction.
11 citations,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
3 citations,
January 2018 in “BioMed Research International” Achieving perfect facial plastic surgery requires personalized plans, proper patient selection, advanced techniques, and ongoing surgeon education.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
40 citations,
July 2017 in “Frontiers in Medicine” Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
20 citations,
February 2003 in “Facial Plastic Surgery” Treat adult facial vascular anomalies with lasers, surgery, or observation, depending on the patient's specific condition.
12 citations,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
11 citations,
May 2019 in “BioMed Research International” Hair transplantation effectively treats scalp scars with high success and patient satisfaction.
5 citations,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
4 citations,
August 2017 in “Journal of cutaneous pathology” An 8-year-old girl had a rare, benign skin tumor on her forehead.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
September 2005 in “Clinics in Plastic Surgery” The document provides a comprehensive index of medical and surgical topics, including hair removal, hair restoration, and various treatments for injuries and conditions.
September 2017 in “Plastic and reconstructive surgery. Global open” Hair and beard transplants using the follicular unit extraction technique are effective, affordable, and minimally invasive treatments for scarring hair loss, with high success and satisfaction rates.
January 2023 in “Springer eBooks” 112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.