Systemic scleroderma is a connective tissue disorder, which affects the skin, vessels and organs such as the heart, digestive tract or lungs.
Systemic scleroderma is a condition that affects a multitude of organs and can therefore lead to the onset of various symptoms. The extent of the symptomatology,…
Dermatofibrosarcoma protuberans is a very rare slow-growing soft-tissue tumor arising from the dermis and subcutaneous tissue, most commonly in the trunk and the extremities. PDGF and collagen chain mutations are the underlying cause of tumor development. Clinical inspection and imaging studies are used in the…
Beckwith-Wiedemann Syndrome is defined as an overgrowth disorder which is mainly characterized by an unusual growth pattern in infants together with an increased risk of getting cancer.
The patients of Beckwith Wiedemann Syndrome manifest the intrauterine signs and symptoms, but the pregnancy continues…
Polymyositis is a rare progressive inflammatory disease of skeletal muscle characterized by symmetrical weakness, pain and tenderness.
People with polymyositis often do not experience symptoms at the onset of immune-mediated muscle cell damage. Weakness occurs when at least 50% of muscle cells become damaged, so…
This is a nonspecific disease of the kidney characterized by proteinuria, edema and hypoalbuminemia. It results from increased permeability of the glomerulus leading to massive loss of protein in the urine.
The commonest presenting features are those due to fluid retention. Facial edema is usually the first sign of…
Dermatomyositis is an inflammatory disease, marked by muscle weakness and characteristic cutaneous findings of unknown etiology.
The skin disease itself is often the first sign of dermatomyositis and considered to be the main manifestation in about 40 percent of affected people. Common skin findings may include: …
Ataxia telangiectasia (AT) is a rare neurodegenerative disorder inherited through an autosomal recessive pattern, mainly characterized by a progressive neurologic impairment together with cerebellar ataxia.
The severity of AT varies between the subjects. Ataxia is undoubtedly one of the most important sings, and…