ABSTRACT
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
AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.
Subject(s)
Adult , Humans , Male , Apocrine Glands/abnormalities , Eccrine Glands/abnormalities , Hypohidrosis/congenital , Hypohidrosis/pathology , Axilla , Apocrine Glands/pathology , China , Eccrine Glands/pathology , ImmunohistochemistryABSTRACT
Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.