April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
2 citations
,
July 2015 in “Journal of Dr. YSR University of Health Sciences.” A young woman with skin issues and weight loss improved after treating her pancreatitis and using skin treatments.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
June 2025 in “British Journal of Dermatology” Consider amyloidosis in patients with specific nail changes and check for systemic issues.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
30 citations
,
May 2008 in “International Journal of Dermatology” Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
4 citations
,
December 1962 in “European journal of endocrinology” Alloxan diabetes, methylthiouracil, cortisone, and adrenaline affect how white mice hair follicles use glucose and cystine and their cell division.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
26 citations
,
December 2012 in “Bioanalysis” Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
April 2026 in “Research Square” Dapagliflozin helps protect heart cells under stress by improving mitochondrial function and reducing cell damage.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
8 citations
,
April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
9 citations
,
January 2018 in “International Journal of Trichology” A woman's hair loss from graft versus host disease helps understand similar hair loss conditions.
28 citations
,
November 2009 in “European Journal of Neuroscience” Progesterone and allopregnanolone increase glycine release in rat brain cells.
15 citations
,
June 2023 in “Molecules” Agarose/fucoidan hydrogels may help treat diabetes by supporting pancreatic cell growth.
3 citations
,
January 2025 in “Burns & Trauma” Glucose metabolism is crucial for wound healing but can delay healing in chronic wounds due to increased stress and inflammation.
44 citations
,
July 1993 in “Journal of Investigative Dermatology” 17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
13 citations
,
August 2016 in “Medical Hypotheses” Hair characteristics might be early signs of Type 2 Diabetes and could help with early prevention.
27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
A high fat lard diet may protect against skin fibrosis and affect hair growth.
October 2021 in “JAAD Case Reports” Topical glycopyrrolate lotion helped reduce excessive sweating from eating in a diabetic man.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
288 citations
,
January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
4 citations
,
July 2023 in “Experimental Dermatology” Fat grafting reduces scar fibrosis but may slow skin healing.
238 citations
,
March 2013 in “Development” Fat cells help recruit healing cells and build skin structure during wound healing.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.