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Research
There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently ...
Orphanet Journal of Rare Diseases 2017 12:105
Published on: 30 May 2017
Research
Vinblastine is the standard treatment for children with Langerhans cell histiocytosis (LCH). Whether this treatment could be extended to adults with LCH is questionable. This retrospective multicenter study in...
Orphanet Journal of Rare Diseases 2017 12:95
Published on: 22 May 2017
Letter to the Editor
Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links ...
Orphanet Journal of Rare Diseases 2017 12:60
Published on: 28 March 2017
Review
Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians’ def...
Orphanet Journal of Rare Diseases 2017 12:54
Published on: 16 March 2017
Review
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is impl...
Orphanet Journal of Rare Diseases 2017 12:51
Published on: 14 March 2017
Research
Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...
Orphanet Journal of Rare Diseases 2017 12:15
Published on: 19 January 2017
Research
Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...
Orphanet Journal of Rare Diseases 2017 12:4
Published on: 6 January 2017
Research
The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.
Orphanet Journal of Rare Diseases 2016 11:165
Published on: 3 December 2016
Research
Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat...
Orphanet Journal of Rare Diseases 2016 11:157
Published on: 22 November 2016
Research
Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options.
Orphanet Journal of Rare Diseases 2016 11:145
Published on: 3 November 2016
Research
Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...
Orphanet Journal of Rare Diseases 2016 11:129
Published on: 29 September 2016
Research
The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...
Orphanet Journal of Rare Diseases 2016 11:111
Published on: 3 August 2016
Research
POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm. Hypogonadism is the most common endocrine abnormality in POEMS syndrome. There is no data about improvement of hypogo...
Orphanet Journal of Rare Diseases 2016 11:80
Published on: 18 June 2016
Research
Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor...
Orphanet Journal of Rare Diseases 2016 11:43
Published on: 21 April 2016
Research
Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste...
Orphanet Journal of Rare Diseases 2016 11:26
Published on: 22 March 2016
Research
Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...
Orphanet Journal of Rare Diseases 2015 10:153
Published on: 2 December 2015
Research
Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...
Orphanet Journal of Rare Diseases 2015 10:149
Published on: 24 November 2015
Research
Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...
Orphanet Journal of Rare Diseases 2015 10:117
Published on: 22 September 2015
Research
Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharma...
Orphanet Journal of Rare Diseases 2015 10:109
Published on: 4 September 2015
Research
Relapsing polychondritis is a rare disease characterised by inflammation of cartilaginous and proteoglycan rich structures. As there are only a few published single centre case series from all across the world...
Orphanet Journal of Rare Diseases 2014 9:198
Published on: 20 December 2014
