56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
January 2001 in “Zhongguo linchuang jiepouxue zazhi” Human hair keratin may help repair spinal cord injuries.
10 citations
,
April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
November 2024 in “Rheumatology Advances in Practice” A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
36 citations
,
September 2009 in “Molecular Neurobiology” 3 citations
,
January 2022 in “Modern Rheumatology Case Reports” Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
January 2024 in “Journal of neurogastroenterology and motility” Quadruple-coated probiotics significantly improve IBS symptoms.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
July 2016 in “Reumatología Clínica (English Edition)” The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
4 citations
,
February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
December 2024 in “PubMed” 13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
December 2015 in “Journal of Neurology and Stroke” A man had a stroke after getting a scalp injection for hair loss.
Platelet-rich plasma treatment helped heal gangrene in a young woman.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
February 2025 in “Indian Dermatology Online Journal” Pincer nails are rare in lupus patients and may be managed conservatively.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
1 citations
,
November 2025 in “Wiener Medizinische Wochenschrift” Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.
August 2018 in “Journal of Investigative Dermatology” A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
2 citations
,
November 2023 in “Indian Dermatology Online Journal” A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
19 citations
,
March 2013 in “Headache The Journal of Head and Face Pain” A woman's headache and hair loss were relieved by Botox injections.