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.
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.
May 2019 in “Small Animal Dermatology” The dog has Color Dilution Alopecia, causing hair loss and increased risk of skin infections.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
3 citations,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
16 citations,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
November 2023 in “Journal of cosmetic dermatology” The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
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.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
4 citations,
January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
1 citations,
November 2021 in “Translational pediatrics” Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
124 citations,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
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.
2 citations,
April 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
1 citations,
June 2023 in “Medicina” People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
April 2023 in “Clinical Chemistry and Laboratory Medicine” The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.