[Fibrous dysplasia: a heterogeneous disease].

Ned Tijdschr Geneeskd

LUMC, Centrum voor Botkwaliteit, Leiden.

Published: February 2018

Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment. Third, a 7-year-old girl with McCune-Albright syndrome who was diagnosed with precocious puberty as a baby and who had extensive disease throughout the skeleton, including multiple lesions in the craniofacial region. The aetiology, clinical expression, diagnostic work-up and therapeutic options for fibrous dysplasia are discussed in a short résumé of the disease.

Download full-text PDF

Source

Publication Analysis

Top Keywords

fibrous dysplasia
12
clinical expression
8
mccune-albright syndrome
8
[fibrous dysplasia
4
dysplasia heterogeneous
4
heterogeneous disease]
4
disease] fibrous
4
dysplasia rare
4
rare genetic
4
genetic bone
4

Similar Publications

Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.

View Article and Find Full Text PDF

Fibrous dysplasia is a slow-progressing benign condition characterized by abnormal bone formation that leads to some skeletal disorders. Although some of the fibrous dysplasia have unusual clinical and radiographic features that can lead to a challenging diagnosis, most lesions reveal an expansile bone defect due to cortex thinning. This report presented a case of monostotic fibrous dysplasia of a 43-year-old woman with involvement of the right maxillary jaw and sinuses, which indicated unusual histopathological features.

View Article and Find Full Text PDF

Acute ischemic stroke, a medical emergency caused by reduced cerebral blood flow, results in brain cell damage. While commonly associated with older individuals, strokes can also occur in young and middle-aged adults, posing significant socio-economic and health challenges due to the long-term impact of the condition. This poses significant socio-economic and health challenges because stroke is a leading cause of disability and mortality.

View Article and Find Full Text PDF

A rare case of bone lesion: Mandible's fibrous dysplasia.

Natl J Maxillofac Surg

November 2024

Department of Health Sciences - Santi Paolo and Carlo Hospital, University of Milan, Italy.

Fibrous dysplasia is a rare genetic syndrome that affects bone tissue. This pathology replaces the mineralized matrix of the bone affected with connective and fibrous tissue. This article describes a mandibular fibrous osseous dysplasia case and its surgical treatment.

View Article and Find Full Text PDF

A woman in her 50s presented with a 1-year history of left hip pain that increased over the past 2 weeks. The pain began following a low-energy fall. During the 1-year period, she had multiple lesions in the thigh and gluteal region, which were surgically excised.

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!