RESUMO
Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.
Assuntos
Hiperidrose/patologia , Hipo-Hidrose/patologia , Doenças do Sistema Nervoso Periférico/patologia , Disautonomias Primárias/patologia , Fibras Colinérgicas/patologia , Humanos , Hiperidrose/fisiopatologia , Hipo-Hidrose/fisiopatologia , Masculino , Pessoa de Meia-Idade , Degeneração Neural/patologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Disautonomias Primárias/fisiopatologia , SíndromeRESUMO
Abstract Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/patologia , Disautonomias Primárias/patologia , Hiperidrose/patologia , Hipo-Hidrose/patologia , Síndrome , Fibras Colinérgicas/patologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Disautonomias Primárias/fisiopatologia , Hiperidrose/fisiopatologia , Hipo-Hidrose/fisiopatologia , Degeneração Neural/patologiaRESUMO
Eccrine glands are uniquely susceptible to a variety of pathologic processes. Alteration in the rate of sweat secretion manifests as hypohidrosis and hyperhidrosis. Obstruction of the eccrine duct leads to miliaria. The excretion of drugs into eccrine sweat may be a contributory factor in neutrophilic eccrine hidradenitis (NEH), syringosquamous metaplasia (SSM), coma bulla, and erythema multiforme (EM). Alterations in the electrolyte composition of eccrine sweat can be observed in several systemic diseases, most notably cystic fibrosis. This article summarizes current knowledge of eccrine gland pathophysiology.
Assuntos
Adulto , Criança , Humanos , Coma/induzido quimicamente , Doenças das Glândulas Sudoríparas/etiologia , Doenças das Glândulas Sudoríparas/fisiopatologia , Doenças das Glândulas Sudoríparas/induzido quimicamente , Eletrólitos/análise , Eritema Multiforme/induzido quimicamente , Fibrose Cística/metabolismo , Glândulas Écrinas/fisiopatologia , Glândulas Écrinas/metabolismo , Glândulas Écrinas/patologia , Hidradenite/induzido quimicamente , Hiperidrose/etiologia , Hiperidrose/fisiopatologia , Hipo-Hidrose/etiologia , Hipo-Hidrose/fisiopatologia , Metaplasia , Miliária/etiologia , Miliária/fisiopatologia , Suor/metabolismo , Suor/química , Suscetibilidade a Doenças , Tratamento Farmacológico/efeitos adversos , Vesícula/induzido quimicamenteAssuntos
Sistema Nervoso Autônomo/fisiopatologia , Sudorese , Esclerose Tuberosa/diagnóstico , Densitometria , Humanos , Hipo-Hidrose/etiologia , Hipo-Hidrose/fisiopatologia , Hipopigmentação/etiologia , Nevo/etiologia , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Neoplasias Cutâneas/etiologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/fisiopatologiaRESUMO
Congenital insensitivity to pain with anhidrosis (CIPA, hereditary sensory and autonomic neuropathy type IV) is an exceedingly rare disease. Only 31 cases have been reported. We report a 4-year-old girl with CIPA and include a complete review of the literature. CIPA is a severe autosomal recessive condition that leads to self-mutilation in the first months of life and to bone fractures, multiple scars, osteomyelitis, joint deformities, and limb amputation as the children grow older. Mental retardation is common. Death from hyperpyrexia occurs within the first 3 years of life in almost 20% of the patients. Ultrastructural and morphometric studies of the peripheral nerves demonstrate a loss of the unmyelinated and small myelinated fibers. The actual physiopathologic mechanism of this developmental disorder remains unknown.