AI Article Synopsis

  • Von Recklinghausen disease, also known as neurofibromatosis type 1, is the most prevalent form of phacomatosis, a group of disorders that affect the skin and nervous system.
  • This condition can lead to various complications, including issues with the bone system.
  • The text presents two specific cases to highlight the bone-related symptoms and effects of Von Recklinghausen disease.

Article Abstract

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160888PMC
http://dx.doi.org/10.1177/2333794X221101771DOI Listing

Publication Analysis

Top Keywords

bone manifestations
8
manifestations neurofibromatosis
4
neurofibromatosis type
4
type von
4
von recklinghausen
4
recklinghausen disease
4
disease common
4
common phacomatosis
4
phacomatosis affect
4
affect systems
4

Similar Publications

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 PDF

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 PDF

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 PDF

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!