July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
22 citations
,
January 2019 in “Hormone and Metabolic Research” Measuring certain hormones can help predict metabolic risk in women with PCOS.
52 citations
,
November 2009 in “International journal of gynaecology and obstetrics” High androgen levels in Chinese women with PCOS are linked to a higher risk of diabetes and obesity.
February 2025 in “JEADV Clinical Practice” A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
27 citations
,
May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
July 2025 in “Journal of Investigative Dermatology” Acne involves increased lipid production and inflammation, affecting skin cell behavior and treatment resistance.
19 citations
,
July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
1 citations
,
December 2013 in “ThinkTech (Texas Tech University)” A low insulinemic diet improves weight, hormone levels, and well-being in women with PCOS.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
11 citations
,
May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
39 citations
,
March 2009 in “Clinics in plastic surgery” Injection lipolysis effectively reduces small fat deposits and should be done with care and proper patient selection.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
1 citations
,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
10 citations
,
January 1994 in “Annals of Internal Medicine” CD4+ lymphocytopenia can occur in patients with systemic lupus erythematosus.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
September 2023 in “International journal of molecular sciences” Targeting lipid metabolism can help treat advanced, resistant cancers.
December 2024 in “Turkish Society of Clinical Biochemistry” Higher BPA levels may be linked to idiopathic hyperandrogenemia in women.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
1 citations
,
August 2023 in “South Asian Research Journal of Pharmaceutical Sciences” Fetuin A levels are higher in PCOS patients, while asprosin levels show no difference.