5 citations
,
August 2020 in “Stem Cell Research & Therapy” Using fat-derived stem cells with the drug meglumine antimoniate can help control skin disease and reduce parasites in mice with leishmaniasis.
December 2023 in “Intisari Sains Medis” SLE and DM can coexist but are rare and need careful evaluation.
31 citations
,
January 2007 in “Journal of the American Academy of Dermatology” A rare skin growth was successfully removed without recurrence after one year.
February 2011 in “Journal of Clinical Investigation” Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
202 citations
,
June 2005 in “Aaps Pharmscitech” Lecithin organogels could be good for applying drugs to the skin because they are stable, safe, and can improve drug absorption.
Spiny mice have resilient, large mitochondria that help them regenerate tissue.
Improved nutrition quickly healed the patient's skin lesions.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
5 citations
,
January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
January 2009 in “Chinese Journal of Evidence-Based Pediatrics” Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
12 citations
,
January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
3 citations
,
September 2008 in “Current signal transduction therapy” Drugs that block GSK-3 show promise for treating various diseases.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
18 citations
,
January 2002 in “Pediatric Dermatology” A rare skin condition in children can look like other diseases.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
79 citations
,
February 2009 in “Human Genetics”
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.