October 2021 in “Acta Scientific Medical Sciences” A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
2 citations
,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” AIRE deficiency causes hair loss similar to alopecia areata in mice.
1 citations
,
January 2024 in “Pediatric Dermatology” The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
January 2016 in “Reactions Weekly” A girl's hair loss from a pharmacy error improved after getting the right medicine.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
18 citations
,
October 2022 in “JCI Insight” Abnormal amino acid metabolism may worsen rosacea symptoms.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
34 citations
,
January 1943 in “Endocrinology” Adrenalectomy boosts hair growth and melanin in black rats, even with vitamin B¹ deficiency.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
3 citations
,
December 2015 in “Musculoskeletal care” Many patients on methotrexate experience significant side effects but still continue the medication.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
15 citations
,
November 2009 in “Journal of diabetes and its complications” Patients with Type 1 diabetes should be screened for pernicious anemia.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
18 citations
,
June 1998 in “Circulation” Mild essential fatty acid deficiency can cause health issues and is worsened by low-fat diets.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
54 citations
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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.