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.
Subject(s)
Hyperhidrosis/pathology , Hypohidrosis/pathology , Peripheral Nervous System Diseases/pathology , Primary Dysautonomias/pathology , Cholinergic Fibers/pathology , Humans , Hyperhidrosis/physiopathology , Hypohidrosis/physiopathology , Male , Middle Aged , Nerve Degeneration/pathology , Peripheral Nervous System Diseases/physiopathology , Primary Dysautonomias/physiopathology , SyndromeABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Peripheral Nervous System Diseases/pathology , Primary Dysautonomias/pathology , Hyperhidrosis/pathology , Hypohidrosis/pathology , Syndrome , Cholinergic Fibers/pathology , Peripheral Nervous System Diseases/physiopathology , Primary Dysautonomias/physiopathology , Hyperhidrosis/physiopathology , Hypohidrosis/physiopathology , Nerve Degeneration/pathologyABSTRACT
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.
Subject(s)
Adult , Child , Humans , Coma/chemically induced , Sweat Gland Diseases/etiology , Sweat Gland Diseases/physiopathology , Sweat Gland Diseases/chemically induced , Electrolytes/analysis , Erythema Multiforme/chemically induced , Cystic Fibrosis/metabolism , Eccrine Glands/physiopathology , Eccrine Glands/metabolism , Eccrine Glands/pathology , Hidradenitis/chemically induced , Hyperhidrosis/etiology , Hyperhidrosis/physiopathology , Hypohidrosis/etiology , Hypohidrosis/physiopathology , Metaplasia , Miliaria/etiology , Miliaria/physiopathology , Sweat/metabolism , Sweat/chemistry , Disease Susceptibility , Drug Therapy/adverse effects , Blister/chemically inducedSubject(s)
Autonomic Nervous System/physiopathology , Sweating , Tuberous Sclerosis/diagnosis , Densitometry , Humans , Hypohidrosis/etiology , Hypohidrosis/physiopathology , Hypopigmentation/etiology , Nevus/etiology , Predictive Value of Tests , Sensitivity and Specificity , Skin Neoplasms/etiology , Tuberous Sclerosis/complications , Tuberous Sclerosis/physiopathologyABSTRACT
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.