Cystic fibrosis is a life-shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF-causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.

Systemic sclerosis (SSc) is a multisystem autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue. This causes vascular damage and fibrosis. Fibrosis occurs in skin, the gastrointestinal (GI) tract, heart, lungs and other internal organs. Vascular manifestations include secondary Raynaud's phenomenon, ischaemia of extremities, pulmona...

Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease. Ocular complications occur in up to one-third of patients with SLE. The ocular findings may represent the initial manifestation of the disease and may lead to severe ocular morbidity and loss of vision. Early diagnosis and prompt management of patients with SLE are mandatory and require collaboration between the oph...

Introduction iabetes mellitus (DM) is a multisystem disorder often associated with peripheral vascular disease. The disease is a common cause of small vessel vasculopathy, hence accounting for atherosclerotic disease is often more diffuse in diabetics, with severe involvement of the distal small vessels. Peripheral vascular disease in diabetics is severe and extensive. Despite advances in our u...

Introduction Juvenile dermatomyositis (JDM) is a multisystem vasculopathic disease that affects primarily the skin and muscle and is characterized by high risk of morbidity and long-term damage. Regular patient assessment through standardized quantitative clinical measures is important to monitor the disease course over time and to evaluate treatment effectiveness. However, only a few outcome m...

Sporadic cases of Behçet's disease in non-endemic regions pose a diagnostic challenge and may be confused with other more common chronic, relapsing multisystem disorders. The urate skin test, an exaggerated inflammatory reaction to intradermally injected monosodium urate crystals, may add a level of diagnostic specificity to a disease which otherwise lacks pathognomonic clinical features.

A 26-year-old woman had myocarditis and peritonitis during an acute multisystem attack of Still's disease. To our knowledge, these complications are rare manifestations of adult Still's disease. Treatment with high-dose adrenocorticosteroids was rapidly successful in controlling these manifestations.

disease that does not in some way affect the kidneys either directly as part of the disease process or as a result of treatment. In this review, ‘multisystem diseases’ are taken to mean those conditions characterised by systemic vasculitis unless otherwise specified. These rare diseases may present to almost any hospital physician, frequently with non-specific signs and symptoms, usually associ...

Behçet's syndrome (BS) is a multisystem vasculitis that presents with a variety of mucocutaneous manifestations such as oral and genital ulcers, papulopustular lesions and erythema nodosum as well as ocular, vascular, gastrointestinal and nervous system involvement. Although it occurs worldwide, it is especially prevalent in the Far East and around the Mediterranean Sea. Male gender and younger...

Rosai-Dorfman disease (RDD) is a reactive multisystem histiocytosis that typically presents with cervical lymphadenopathy and systemic symptoms. Cutaneous involvement occurs in approximately 10% of cases, and 3% of cases are limited to the skin without nodal or other extranodal involvement. Langerhans cell histiocytosis (LCH) is a clonal histiocytosis with a wide spectrum of presentations rangi...