50 citations
,
October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
35 citations
,
February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
32 citations
,
December 2017 in “International Journal of Molecular Sciences” Low vitamin D might be linked to certain types of hair loss, and supplements could help, but more research is needed.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
14 citations
,
November 2005 in “Life sciences” Vitamin D3 may protect rat hair follicles from radiation damage.
13 citations
,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
11 citations
,
April 2009 in “Pharmacotherapy” Minoxidil can cause deadly skin reaction; monitor patients closely.
5 citations
,
January 2024 in “Journal of Cancer” The treatment combination is effective and generally safe for lung cancer.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
2 citations
,
December 2007 in “Expert Review of Dermatology” The document concludes that early diagnosis and treatment are key for pediatric hair loss disorders, and addressing the emotional effects on children is important.
1 citations
,
January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” Vitamin D may help regulate cholesterol and influence prostate cancer development.
January 2026 in “Forum Dermatologicum” Hair loss can be caused by cancer, treatments, or skin conditions, and trichoscopy helps diagnose it.
December 2025 in “BJPsych Open” Semaglutide may worsen eating disorders in vulnerable individuals.
January 2025 in “Medical Research Archives” Anorexia nervosa causes serious health issues, best treated with a team approach focusing on nutrition.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
January 2019 in “Springer Reference Medizin” Follicle Stimulating Hormone is important for fertility.
May 2016 in “Cambridge University Press eBooks” Eating disorders are serious, often undiagnosed conditions requiring early treatment, with anorexia being the most deadly and binge-eating the most treatable.
October 2015 in “Elsevier eBooks” Aldesleukin can treat certain cancers and increase HIV patient CD4+ counts but often causes severe side effects.
June 2012 in “Springer eBooks” Skin changes can indicate starvation and nutritional deficiencies in anorexia nervosa.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
1 citations
,
January 2023 in “Elsevier eBooks” Phospholipases help maintain and restore skin and hair health, potentially leading to new treatments for related conditions.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.