ABSTRACT
BACKGROUND: Epidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. The presence of particular symptoms is directly determined by a type of altered skin protein. Gastrointestinal manifestation of EB is most commonly reflected by esophageal stenosis due to recurrent esophageal blistering, followed by consequent scarring. CASE PRESENTATION: Here we present a case of a man with dystrophic EB and dysphagia, skin blistering, joints contractures and missing nails. To our knowledge, the presented man is the oldest one diagnosed with EB living in Poland. CONCLUSIONS: Management of an esophageal stricture in such circumstances is based on endoscopic dilatation. However, in most severe cases, placement of a gastrostomy tube is required. Despite great advances in medicine, a targeted therapy in the course of EB has not been established yet.
Subject(s)
Blister/etiology , Contracture/etiology , Deglutition Disorders/etiology , Epidermolysis Bullosa Dystrophica/complications , Esophageal Stenosis/etiology , Nails, Malformed/etiology , Adult , Deglutition Disorders/drug therapy , Esophageal Stenosis/drug therapy , Humans , Male , Proton Pump Inhibitors/therapeutic useSubject(s)
Adenocarcinoma/drug therapy , Antimetabolites, Antineoplastic/therapeutic use , Erlotinib Hydrochloride/therapeutic use , Lung Neoplasms/drug therapy , Protein Kinase Inhibitors/therapeutic use , Adenocarcinoma/diagnosis , Adenocarcinoma/pathology , Adenocarcinoma of Lung , Aged , Female , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/pathology , Neoplasm StagingABSTRACT
Amyloidosis is characterised by the accumulation of poorly soluble fibrous proteins in the extracellular space of various bodily organs. Light chain amyloidosis (AL) is recognised as the most common form of systemic amyloidosis. Light chains are deposited in the majority of bodily organs, and accumulation of them in the liver produces hepatomegaly. We report a case of AL-systemic amyloidosis with liver involvement in a 71-year-old woman. Hepatomegaly, weight loss and general malaise were the first manifestations of the disease. Liver biopsy found amyloid deposits along the sinusoids as well as in the space of Disse, inside the vascular wall and in connective tissue of the portal tracts, which showed a positive reaction in Congo Red stain. Further diagnosis showed the presence of systemic amyloidosis. The patient was put on cyclophosphamide and steroid therapy.
ABSTRACT
Multislice computed tomography (MSCT) is a modern imaging method providing wider diagnostic possibilities. Its advantages include nearly isotropic imaging with high-quality, artefact-free two- and three-dimensional reconstructions, and scanning speed which allows routine multiphasic examinations of large body areas. The authors present their experience of multiphasic renal examinations using 8-row MSCT.
