2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
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.
1 citations,
September 2016 in “Journal of Dermatological Science” FGF18 treatment during hair's resting phase can protect against hair loss from radiation.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations,
January 2013 in “Journal of Investigative Dermatology” The document concludes that stem cells and their environments are crucial for skin and hair health and have potential for medical treatments.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
December 2023 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
May 2021 in “Journal of the Endocrine Society” A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
September 2016 in “Journal of Dermatological Science” Wnt-10b is important for keeping mouse skin cells healthy for hair growth.
The document tests knowledge and decision-making in hematology through multiple-choice questions.
The document provides 70 multiple choice questions to improve haematology skills.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
1 citations,
July 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
194 citations,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
3 citations,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
18 citations,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
7 citations,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
5 citations,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.