2 citations,
July 2021 in “Journal of Dermatology and Dermatologic Surgery” Exposure to the hair loss drug finasteride during pregnancy can cause genital anomalies in male babies, but not in female babies. It's best to avoid this drug in women who could potentially become pregnant.
3 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
3 citations,
April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
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.
1 citations,
December 2019 in “Canadian journal of ophthalmology” A girl with type 1 diabetes developed a serious eye condition very early, suggesting the need for earlier eye checks and that early treatment can work well.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
8 citations,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
32 citations,
January 2007 in “KARGER eBooks” Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
4 citations,
July 2005 in “International Journal of Dermatology” Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
29 citations,
December 2003 in “Teratology” Minoxidil use during pregnancy may cause fetal harm.
8 citations,
August 2019 in “Journal of The American Academy of Dermatology” Early diagnosis and treatment, like topical minoxidil, can prevent hair loss in children.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
January 2019 in “Springer eBooks” Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
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.
4 citations,
September 2016 in “Journal der Deutschen Dermatologischen Gesellschaft” Some skin patients have body image issues linked to social difficulties but want psychological help.
1 citations,
January 2013 in “International Journal of Trichology” A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
13 citations,
June 2015 in “International Journal of Dermatology” Patients with hair loss are much more likely to have body dysmorphic disorder than general dermatology patients.
9 citations,
February 2016 in “Cambridge University Press eBooks” The conclusion is that self-concept, shame, and emotion regulation are key factors in hoarding disorder, body dysmorphic disorder, and trichotillomania, and should be targeted in treatment and research.
4 citations,
December 2020 in “Neuropsychiatric Disease and Treatment” Women with skin conditions who have body image concerns often experience mental health issues and a lower quality of life.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
July 2012 in “Hair transplant forum international” Hair transplant improved self-perception in hair loss patients, but some still remained overly focused on their hair appearance.