Search
Search Results
-
Acro-osteolysis: imaging, differential diagnosis, and disposition review
Acro-osteolysis is the osseous destruction of the hand or foot distal phalanges. The categories of the disease include terminal tuft, midshaft, or...
-
-
Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report
BackgroundAcro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii)...
-
Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist
IntroductionAcro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with...
-
Hands and feet radiologic involvements in systemic sclerosis
AimSystemic sclerosis (SSc) is a rare autoimmune disorder characterized by vascular and fibrosing involvement of the skin and internal organs. In...
-
Exploratory use of romosozumab for osteoporosis in a patient with Hajdu–Cheney syndrome: a case report
Hajdu–Cheney syndrome (HCS) is an inherited skeletal disorder caused by mutations in the Notch homolog protein 2 gene ( NOTCH2 ). Treatment of this...
-
Fingerprint comparison between before disease onset and after systemic sclerosis diagnosis: a monocentric cross-sectional study
BackgroundSkin tightness is a hallmark of systemic sclerosis (SSc), and the fingers are an affected body part, so much so that fingerprints can be...
-
A case of safe airway management by fiber-optic nasotracheal intubation in general anesthesia in a pediatric patient with Hajdu-Cheney syndrome: a case report
BackgroundHajdu-Cheney syndrome (HCS) is an extremely rare disorder characterized by progressive acro-osteolysis. A unique facial structure and...
-
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
BackgroundSingleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes...
-
When parathyroid adenoma meets osteopathia striata, rarest amalgam of bony dysplasia with brown tumors: a case report
BackgroundOsteopathia is a benign entity characterized by linear densities along the diaphysis and metaphysis of the longitudinal axes of the long...
-
Does hand involvement in systemic sclerosis limit completion of patient-reported outcome measures?
The objective of this analysis is to examine whether the severity of systemic sclerosis (SSc)-hand involvement influences patient-reported outcome...
-
-
Surgical treatment of pycnodysostosis associated with pathological tibial fracture
BackgroundPycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of...
-
Assessing scleroderma patterns with superb microvascular imaging: is it possible? New prospects for ultrasound
Nailfold videocapillaroscopy is the gold standard for the early differentiation of primary and secondary Raynaud’s phenomenon. Advances in...
-
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
BackgroundHajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2 . Its highly variable...
-
Contextual anaesthesia for a rare case of pycnodysostosis with myriad presentation: a case report
BackgroundPycnodysostosis is a rare inherited syndrome characterized by classical craniofacial defects and diffuse osteosclerosis disorder of bones...
-
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
BackgroundMandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance...
