6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
3 citations
,
November 2020 in “Cleveland Clinic Journal of Medicine” Eyelash loss can be a sign of thyroid problems.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
191 citations
,
November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
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.
April 2019 in “Journal of Investigative Dermatology” Alopecia Areata patients have too many Firmicutes and too few Bacteroides in their gut.
September 2008 in “Fertility and Sterility” Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
10 citations
,
June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
1 citations
,
March 2018 in “BMJ case reports” Dilated pupils can be an early sign of HIV/AIDS.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
44 citations
,
May 2008 in “Fertility and Sterility” Insulin resistance might not be enough to worsen blood vessel function in young, nonobese women with polycystic ovary syndrome.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
1 citations
,
January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
39 citations
,
July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
1 citations
,
November 2023 in “Journal of neurology” A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
65 citations
,
April 2007 in “Chemistry and Physics of Lipids” Steroid hormones change the size, charge, and stability of DPPC liposomes.
21 citations
,
November 2015 in “Archives of Gynecology and Obstetrics” Greek women with PCOS have a higher risk of metabolic syndrome and are more likely to be overweight compared to healthy controls.
6 citations
,
June 2024 in “Medical Review” Biliary fibrosis is crucial in liver diseases and understanding it can help prevent and treat these conditions.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
8 citations
,
September 1981 in “Zentralblatt für Veterinärmedizin Reihe A” Biotin deficiency in pigs causes hair loss, skin issues, and weak claws.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.