Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
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http://dx.doi.org/10.1177/2333794X221101771 | DOI Listing |
Int J Surg
January 2025
Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: Congenital pseudarthrosis of the tibia (CPT) is a rare condition typically manifesting within the first decade of life. The primary objectives of surgical intervention for CPT include achieving long-term bony union of the tibia, preventing or minimizing limb length discrepancies (LLD), avoiding mechanical axis deviations of the tibia and adjacent joints, and preventing refracture. This study aims to conduct a systematic review of current treatment methods for CPT to determine the most effective non-surgical and surgical management strategies for pediatric patients with this condition.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFRev Med Chil
May 2024
Departamento de Nefrología, Clínica Dávila, Santiago, Chile.
Unlabelled: Uremic leontiasis ossia (ULO) is a rare manifestation of renal osteodystrophy in) patients with end-stage chronic kidney disease (CKD) and secondary hyperparathyroidism (SHPTH). It occurs due to increased osteoclastic activity secondary to high plasmatic parathyroid hormone (PTH) levels. This leads to bone deformation with thickening and massive enlargement of the cranial vault, resulting in a leonine face appearance.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Diagnostic and Interventional Radiology, University Hospital Merkur, 10000, Zagreb, Croatia.
Transient osteoporosis (TO) is a self-limiting bone disorder with a benign clinical course and unknown etiology, typically manifesting in the third trimester of pregnancy. There are only a few documented cases of TO in pregnant women involving the knee joint. We report a 38-year-old female patient in the third trimester of pregnancy who presented with an 8-week history of progressive worsening of the right knee pain.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Radiology Department, Hamad Medical Corporation, Doha, Qatar.
Langerhans cell histiocytosis (LCH) is a rare disorder, especially among adults, characterized by abnormal accumulation of dendritic histiocytes in various tissues, presenting as either single- or multi-system disease. In adults, spinal involvement is less common than long bone, while central nervous system manifestations, such as pituitary gland enlargement and stalk thickening, affect about a quarter of adult patients and may lead to significant endocrine disorders. Salivary gland involvement is another extremely rare manifestation of LCH.
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