BMP-4 and fetuin A in systemic sclerosis patients with or without calcinosis
Frontiers in ImmunologyIntroductionSystemic sclerosis (SSc) is a connective tissue disease at the interface between inflammation and autoimmunity progressively leading to diffuse microvascular and fibrotic involvement of the skin and of multiple internal organs. Approximately,
Francesco Demetrio Lofaro +8 more
doaj +1 more source
Rare association of Fahr’s disease with multiple myeloma: A case report [PDF]
, 2014 Fahr’s disease or Fahr’s syndrome is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia and cerebral cortex.
GC Misra +3 more
core +1 more source
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Clinical Genetics, Volume 108, Issue 5, Page 599-603, November 2025.Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs +10 more
wiley +1 more source
Basal Cell Carcinoma With Calcification: Case Report of Calcifying Basal Cell Carcinoma and Review of Calcinosis Cutis Associated With Basal Cell Carcinoma [PDF]
, 2021 Parnia Forouzan +3 more
openalex +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Avid 18F-FDG Uptake in Idiopathic Tumoral Calcinosis Mimicking Lymph Node Metastasis
Diagnostics, 2017 Tumoral calcinosis is a benign condition characterized by periarticular calcified lesions that is frequently observed in patients with chronic renal failure. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. We present a case
Jesper Strandberg, Helle D. Zacho
doaj +1 more source
Exuberant calcinosis and acroosteolysis. A diagnostic challenge [PDF]
, 2009 A case of exuberant acroosteolysis and subcutaneous tissue calcinosis in the absence of skin involvement is presented.
Ambrósio, C +4 more
core
Hyperphosphatemic Tumoral Calcinosis
Plastic and Reconstructive Surgery, 2000 Tumoral calcinosis is a rare syndrome characterized by progressively growing and painless masses of calcium phosphate deposits within periarticular areas. Biochemical findings are normal except for an association with hyperphosphatemia. This report describes hyperphosphatemic tumoral calcinosis in a 22-year-old man who had been operated on five times ...
Savaci, N +3 more
openaire +3 more sources
Dystrophic Calcinosis in a Patient with Scleroderma: Imaging Findings and Literature Review
Journal of Mazandaran University of Medical Sciences, 2020 Subcutaneous calcinosis consists of abnormal calcium deposition in soft tissues and is one of the complications of scleroderma, especially in limited systemic sclerosis.
Maryam Mobini +2 more
doaj
Unusual Idiopathic Calcinosis Cutis Universalis in a Child
Case Reports in Dermatology, 2009 Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite) in the skin in various areas of the body.
Derya Alabaz +3 more
doaj +1 more source