Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An otherwise normal 11-year-old boy had reately reduced acral pain and temperature sensation with associated trophic damage. The disorder was present at birth, and there was no family history of similar problems. The patient also exhibited complete anhidrosis. The case may an "overlap" between what has been termed as hereditary sensory neuropathy (HSN) type 2 and type 4.
 ...
PMID:Congenital sensory neuropathy: report of an atypical case. 6 22

A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.
 ...
PMID:A new variety of hereditary sensory neuropathy. 19 48

A female infant nine months of age, hospitalized several times because of feeding and thriving problems as well as statomotoric retardation, at the occasion of a combustion showed no sign of perceiving pain. Based on clinical symptoms, histological and electron microscopical examinations the disease could be classified as hereditary sensory neuropathy type III.
 ...
PMID:[A contribution to hereditary sensory neuropathy. Electron microscopical studies (author's transl)]. 29 Aug 56

Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.
 ...
PMID:Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV). 128 6

A rare case of congenital insensitivity to pain with anhidrosis is presented. The male patient, who expired at 17 years of age, was noted insensitive to pain and bouts of unexplained fever at birth. He frequently fractured the hands and feet with secondary osteomyelitis. He did not sweat even in warm season. The intradermal nerve fibres and sweat glands were normal in distribution. The peripheral nerve seemed to be almost normal with light microscopy but the electron microscopical study revealed extreme paucity of unmyelinated fibers and a reduction of myelinated fibres, especially of small caliber. Abundant collagen fibrils comprised the endoneurium. There were no regenerative and/or degenerative changes of axons and myelin sheaths. The pathology of the peripheral nerve was considered to be congenital. Our case might belong to a category of congenital sensory neuropathy with anhidrosis (Pinsky and Di George 1966), congenital insensitivity to pain with anhidrosis (Gillespie and Perucca 1960) or hereditary sensory neuropathy type IV (Dyck and Ohta 1975, Goebel et al 1980).
 ...
PMID:Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves. 242 84

The authors report a new case of indifference to pain secondary to hereditary sensory neuropathy in a 3 year 9 month-old boy. This child presented with isolated diffuse deficiency of pain and heat sensitiveness with preserved touch without any other neurologic involvement or anhidrosis. Nerve biopsy showed the complete lack of amyelinic fibers. P substance, which might act as a mediator or modulator of the nociception, was absent from the cutaneous nerve endings.
 ...
PMID:[Indifference to pain secondary to congenital sensory neuropathy. Apropos of a new case]. 244 80

A male infant had sensory and autonomic dysfunction, and his identical twin had a similar clinical finding. One twin was extensively studied, utilizing sural nerve, skin, and conjunctival biopsy specimens, to evaluate the status of peripheral sensory axons. The results support an antenatal neurodevelopmental disturbance in axonal growth that affects sensory neurons and limits their distal extension. Neuropathologic studies of this patient closely resemble findings in hereditary sensory neuropathy type II; clinically, however, this patient resembles patients with congenital autonomic dysfunction and universal pain loss. Investigation of proximal and distal sural nerve, skin, and/or conjunctival biopsy specimens is recommended in patients with sensory and autonomic dysfunction to help differentiate these patients to assist in genetic counselling, treatment, and prognosis. It is possible that clinical overlap in such patients may result from a common neuropathic process, but with varying degrees of involvement.
 ...
PMID:Paucifascicular congenital sensory neuropathy in identical twins. 301 Jul 2

A nine-year-old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6-10 micrometers. A grouping of both type 1 and type 2 muscle fibers was also seen. We suggest that this disease entity is not caused by a hereditary sensory neuropathy, but rather that it derives from a developmental defect.
 ...
PMID:Congenital insensitivity to pain with anhidrosis. 615 86

The ultrastructural study of a skin biopsy in a patient afflicted with hereditary sensory neuropathy type IV (congenital insensitivity to pain with anhidrosis) did not reveal any unmyelinated axons or axonal terminals around eccrine sweat glands but only processes, partially covered by a basement membrane and therefore resembling Schwann cell processes. The absence of such unmyelinated axons in close proximity to eccrine sweat glands where they normally occur appears to be the morphological equivalent to the anhidrosis and also corresponds to the deficiency of unmyelinated axons in the sural nerve of the same patient, as previously reported.
 ...
PMID:Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. 616 37

A young woman had chronic symptoms of "burning feet" but no clinical or neurophysiologic findings of neuropathy. These symptoms were aggravated by warmth and ameliorated by cooling. Extensive pathologic grading of teased sural nerve fibers, however, provided suggestive evidence of a low-grade pathologic abnormality. Other kin were discovered to have similar symptoms in an autosomal-dominant pattern, and some of these relatives had evidence of a subclinical sensory neuropathy. From this experience, we infer that a mild subclinical neuropathy may underlie the symptom of burning feet; burning pain of the feet may be dominantly inherited; hereditary sensory neuropathy may, therefore, manifest with only positive symptoms of burning pain, restless legs, and lancinating pain, rather than with mutilating acropathy, neurotrophic arthropathy, or severe distal sensory loss as is usually reported; and temperature may modulate physiologic mechanisms related to the experience of burning pain.
 ...
PMID:"Burning feet" as the only manifestation of dominantly inherited sensory neuropathy. 657 33


1 2 3 Next >>