ABSTRACT
Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Fabry Disease/diagnosis , Carbamazepine/therapeutic use , Sensitivity and Specificity , Fabry Disease/drug therapy , Peripheral Nervous System Diseases/diagnosis , Analgesics, Non-Narcotic/therapeutic use , Somatosensory Disorders/diagnosis , Enzyme Replacement TherapyABSTRACT
Abstract: Sensitive skin is a condition characterized by stinging, burning and itching sensations. The diagnosis, pathophysiology and treatment of sensitive skin are still under discussion. In the last years, studies on its epidemiology have been performed, showing a high prevalence and impact on quality of life. Brazilian population was also considered in these studies. Cosmetics, climate changes and skin barrier impairment are the main factors that contribute for skin hyperreactivity. New studies are trying to bring new knowledge about the theme. This review will describe data on epidemiology, triggering factors, pathophysiology, diagnosis and treatment.
Subject(s)
Humans , Skin Diseases , Somatosensory Disorders , Skin Diseases/diagnosis , Skin Diseases/etiology , Skin Diseases/therapy , Skin Diseases/epidemiology , Brazil/epidemiology , Skin Tests/methods , Causality , Surveys and Questionnaires , Cosmetics/adverse effects , Somatosensory Disorders/diagnosis , Somatosensory Disorders/etiology , Somatosensory Disorders/therapy , Somatosensory Disorders/epidemiology , Dermatitis/diagnosis , Dermatitis/physiopathology , Dermatitis/epidemiology , EnvironmentABSTRACT
Tinnitus is the perception of sound in the absence of an acoustic external stimulus. It affects 10-17 percent of the world's population and it a complex symptom with multiple causes, which is influenced by pathways other than the auditory one. Recently, it has been observed that tinnitus may be provoked or modulated by stimulation arising from the somatosensorial system, as well as from the somatomotor and visual-motor systems. This specific subgroup -somatosensory tinnitus - is present in 65 percent of cases, even though it tends to be underdiagnosed. As a consequence, it is necessary to establish evaluation protocols and specific treatments focusing on both the auditory pathway and the musculoskeletal system.