11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
18 citations
,
December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
June 2021 in “Asian Journal of Medical Sciences” Vitamin B12 deficiency can cause reversible skin darkening.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
June 2025 in “JCEM Case Reports” False high testosterone levels were corrected using a more accurate test.
11 citations
,
January 2016 in “The Journal of Sexual Medicine” Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
4 citations
,
August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
66 citations
,
November 1997 in “Nutrition” One-third of patients on home nutrition had micronutrient deficiencies, with iron deficiency being most common, but serious issues were rare.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
1 citations
,
November 2007 in “Humana Press eBooks” Most cases of high male hormone levels in women are due to polycystic ovary syndrome.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
14 citations
,
February 2016 in “Journal of Obstetrics and Gynaecology Research” Blood tests are needed to confirm high male hormone levels in women with PCOS, as physical signs alone are not reliable.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
July 2025 in “Ecotoxicology and Environmental Safety” This study, involving 407 Chinese adults, investigated the relationship between hair metal exposure and dyslipidemia. It found that higher hair concentrations of molybdenum (Mo) and lead (Pb) were positively associated with increased cholesterol levels and higher odds of dyslipidemia. Conversely, calcium (Ca) and cadmium (Cd) were inversely associated with low-density lipoprotein cholesterol (LDL-C), and Cd was negatively associated with high-density lipoprotein cholesterol (HDL-C). The study highlighted that Mo and Pb had the strongest associations with dyslipidemia, with a synergistic effect amplifying the risk when both were present. An antagonistic interaction between Cd and Pb was also observed, suggesting complex interactions between different metals in influencing dyslipidemia risk.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
June 2025 in “British Journal of Dermatology” Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
11 citations
,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
11 citations
,
January 2023 in “World Journal of Clinical Cases” Idiopathic hirsutism might not be truly idiopathic but could be an early stage of hyperandrogenic disorders.