26 citations,
October 2014 in “Andrologia” Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
10 citations,
October 2017 in “Archivos Argentinos De Pediatria” Most hospitalized children with skin issues were boys, with allergic skin diseases like atopic dermatitis being most common, and treatments were usually topical.
6 citations,
March 2020 in “Jornal de Pediatria” Inflammatory skin conditions are the most common in Brazilian children, with atopic dermatitis being the top issue.
2 citations,
July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
13 citations,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
3 citations,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
3 citations,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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.
19 citations,
July 2007 in “Dermatologic clinics” Tailor treatments for vitiligo to patient needs for best results.
17 citations,
September 2019 in “Journal of Cell Biology” Hair follicle regeneration may slow tumor growth.
14 citations,
July 2010 in “British Journal of Dermatology” Estrogen and prolactin may play bigger roles in female hair loss than previously thought.
1 citations,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
184 citations,
October 2007 in “Proceedings of the National Academy of Sciences of the United States of America” Sulforaphane from broccoli can help protect skin from sun damage.
56 citations,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
49 citations,
August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
36 citations,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
23 citations,
May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
18 citations,
June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
13 citations,
April 2009 in “PLOS ONE” No clear link between androgen receptor variation and hair loss, but more research needed.
10 citations,
November 2010 in “Journal of Dermatology” Longer CAG repeats in gene linked to more severe hair loss in females.
7 citations,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
December 2023 in “Research Square (Research Square)” People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Adipocytes can change into fibroblast-like cells to help with wound healing.