260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
159 citations,
March 2014 in “Journal of The American Academy of Dermatology” Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.
100 citations,
September 2016 in “Clinical transplantation/Clinical transplantation.” Voriconazole can cause serious side effects, especially in long-term use.
82 citations,
April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
78 citations,
January 2017 in “Skin appendage disorders” Biotin supplements may improve hair and nail growth in people with certain deficiencies or conditions, but there's not enough evidence to recommend it for healthy individuals.
76 citations,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
73 citations,
March 2014 in “Journal of The American Academy of Dermatology” Most dermatologic medications are safe during pregnancy and breastfeeding, but some should be avoided due to potential risks.
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.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
50 citations,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
47 citations,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Premature graying of hair may suggest health issues and currently lacks effective treatments.
40 citations,
August 2018 in “Skin appendage disorders” Some alternative treatments for hair loss might work, but more research is needed.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
28 citations,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
19 citations,
March 2011 in “Cutaneous and Ocular Toxicology” Some chemicals absorbed through the skin can cause serious health problems.
18 citations,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
16 citations,
May 2019 in “International Journal of Women's Dermatology” The new FDA labeling rules provide more detailed drug safety information for pregnant and breastfeeding women, but more data is needed on the risks of many dermatologic drugs.
15 citations,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
15 citations,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
14 citations,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
13 citations,
January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
12 citations,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
10 citations,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” Hair changes can indicate systemic diseases or medication effects.
9 citations,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
9 citations,
January 2018 in “American Journal of Men's Health” Finasteride use can cause lasting negative effects like sexual dysfunction, depression, anxiety, and cognitive issues.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
7 citations,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
6 citations,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
5 citations,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.