We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this ...

Hypermobility type Ehlers-Danlos syndrome (EDS-HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations. This article presents a large-scale study that reports the lived experience of EDS-HT patients, the broad range of symptoms that individuals with EDS-HT experience, and the impact these symptoms ...

Pellagra is a nutritional disorder secondary to niacin deficiency. The classical triad is dermatitis, diarrhea, and dementia. We report the case of a young girl with hypermobility-type Ehlers-Danlos syndrome who exhibited the classical pellagra symptoms, despite apparent adequate nutritional intake. Her condition resolved after oral niacin supplements were administered. Although this associatio...

OBJECTIVE To determine the presence of hypermobility and differences between females and males in a Dutch population. STUDY DESIGN Joint mobility was measured in a primary and a secondary school population. Beighton and Biro measurements were used. The data were evaluated statistically. RESULTS Using the Beighton score, 15.5% of group I (n = 252; 4-13 years) and 13.4% of group II (n = 658; ...

We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation resulted in cardiac failure and death 20 hours after birth. This case represents the severe end of the...

Background A twelve year old female with generalised joint hypermobility (Beighton 8/9) from Noonan's syndrome presented with chronic neck pain which caused frequent headaches. Touching the trapezeii reproduced the pain and range of movement at the cervical spine was decreased. She had been managed unsuccessfully with manual techniques, mobilisation, stretches and TENS over the prior twelve mon...

Here we present the case of a 27-year-old woman with benign joint hypermobility (BJHS) syndrome who developed keratectasia after laser in situ keratomileusis (LASIK) in both eyes. Both eyes had identical low Randleman risk factor scores. To our knowledge, this is the first report of such a complication in a patient with BJHS. It highlights our incomplete knowledge of the risk factors for kerate...

Introduction Chronic Musculoskeletal Pain (MSP) in children can be due to various non-inflammatory conditions, such as the benign joint hypermobility syndrome (BJHS) or idiopathic MSP (IMSP). MSP heavily influences patient’s quality of life and is often misdiagnosed or included in the vast category of unspecific MSP. A careful differential diagnosis and knowledge of possible risk factors are ne...