28 citations,
September 2015 in “Wiener Klinische Wochenschrift” New skin substitutes for treating severe burns and chronic wounds are being developed, but a permanent solution for deep wounds is not yet available commercially.
10 citations,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” Hair changes can indicate systemic diseases or medication effects.
3 citations,
December 2003 in “Micron” The book "Hair Science and Technology" provides a deep understanding of hair biology and genetics, discusses hair growth, density, and diseases, and offers methods for managing hair loss and caring for hair growth.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
August 2003 in “International Journal of Cosmetic Surgery and Aesthetic Dermatology” The document recommends the reviewed medical books for professionals in cosmetic surgery, dermatology, and genetics.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
7 citations,
June 2018 in “Journal of the American Academy of Dermatology” The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
5 citations,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
3 citations,
January 2016 in “Journal of cosmetology & trichology” Taking vitamins, minerals, and amino acids can improve hair strength and quality in people with Monilethrix.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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.
Controlling Tslp can improve health in AEC syndrome patients.
February 2006 in “Expert review of dermatology” Acne is caused by hormones, genetics, skin cell buildup, oil production, bacteria, and inflammation.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
1 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The meeting presented new findings on hair stem cells, pigmentation, genetics, and modern hair treatment techniques.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
10 citations,
October 2017 in “Pediatric neurology” Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
32 citations,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
18 citations,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
18 citations,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
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.
1 citations,
December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.