8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
36 citations
,
March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
2 citations
,
July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
9 citations
,
December 2023 in “Journal of Neuroimmune Pharmacology” NDP-MSH protects brain cells and reduces inflammation in Parkinson's disease by activating MC1R and involving Tregs.
May 2025 in “The Journal of Rheumatology” Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
June 2015 in “Annals of the Rheumatic Diseases” Managing multiple autoimmune diseases in one patient is very challenging.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
12 citations
,
October 2006 Matriptase imbalance contributes to cancer development and spread.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
March 2026 in “ACS Applied Materials & Interfaces” MCP@G improves diabetic wound healing by reducing stress and promoting tissue repair.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
7 citations
,
April 2025 in “Science Advances” Silicate-based therapy may help treat inflammatory heart disease by reducing immune inflammation.
6 citations
,
August 2024 in “Biomacromolecules” The model helps test drugs for clubfoot fibrosis by mimicking cell environments and shows minoxidil reduces harmful collagen links.
December 2024 in “NeoReviews” Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
December 2025 in “Cosmetics” Nanocarriers can improve skin treatments after cancer therapy by enhancing antioxidant delivery and effectiveness.
January 2024 in “Brazilian Journal of Veterinary Pathology” The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
1 citations
,
November 2020 in “International Journal of Dermatology” Methotrexate caused a rare skin rash in a rheumatoid arthritis patient, which resolved after stopping the drug.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
2 citations
,
June 2017 in “Journal of Evidence Based Medicine and Healthcare” Skin and mucous symptoms are key for diagnosing autoimmune connective tissue diseases.
April 2026 in “SHILAP Revista de lepidopterología” Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
January 2023 in “National journal of physiology, pharmacy and pharmacology” Low-dose methotrexate is generally safe but can cause mild to severe side effects, and folic acid can reduce these risks.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
18 citations
,
August 2011 in “Medical Hypotheses” Physical inactivity is a primary cause of many human illnesses.