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Results for “ERYTHROMELALGIA”

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At least 343 records · Page 19Linked to original sources
PubMed2005

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

BACKGROUND: Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. OBJECTIVE: To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia. RESULTS: The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower legs provoked or aggravated by warmth and exercise, and relief was always obtained by application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel alpha subunit Nav1.7. CONCLUSION: Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.

Adolescent↗
PubMed1995

Acute secondary erythermalgia and hypertension in children. Erythermalgia Multidisciplinary Study Group.

We studied the clinical symptoms in nine children (seven females and two males; mean age 11.6 years) with severe but transient acute secondary erythermalgia. The classical symptoms at presentation were episodic attacks of painful burning hands and feet which felt warm with congested appearance of the feet. Each attack lasted for a mean period of 25 days (range from 6 to 56 days). The blood pressure was elevated in seven patients. Intravenous sodium nitroprusside was effective in ameliorating the symptoms with drop in blood pressure to normal in five patients; pizotifene, labetolol, prostaglandin E1 and hypnotherapy were effective in each of four separate cases. The episodes of acute secondary erythermalgia were transient in all and did not recur after a mean follow up period of 1.6 years. These cases suggest that acute secondary erythermalgia, however transient, is not rare and can be associated with mild to moderate hypertension which may respond to sodium nitroprusside. A greater awareness of this condition is necessary to make an accurate and timely diagnosis and institute appropriate therapy in order to prevent undue complications.

Acute Disease↗
PubMed1995

Neurectomy for palliation of primary erythermalgia.

Ankle nerve crushing followed 6 months later by neurectomy was used for relief of a burning sensation and pain in a 32-year-old woman who had symptoms of unilateral primary erythermalgia. The patient continues to experience considerable improvement of the preceding symptoms and no complications from the insensate foot 1 year after neurectomy, although redness and tenseness of the ankle and the foot have persisted.

Adult↗
PubMed2001

Unexpected healing of cutaneous ulcers in a short child.

A boy aged 10 years was referred to the Paediatric Department of Milan University Hospital, Milan, Italy, with a long history of pain in the lower limbs, alleviated only by exposure to cold. His legs were swollen, with multiple cutaneous ulcers. He had severe painful crises, and was totally incapacitated. After the diagnosis of erythermalgia was made, numerous treatments were tried, but none were successful. After finding growth hormone (GH) deficiency, we started treatment with recombinant GH. He had immediate relief of pain and complete healing of ulcers. We postulate that the healing of the ulcers can be attributed to the GH-promoting effect on dermal connective tissue.

Child↗
PubMed1979

Erythermalgia with vasculitis: a review.

Erythermalgia is a condition of the extremities characterized by redness, increased temperature, and burning pain. A case of erythermalgia and coincident vasculitis of the feet is reported. The literature on the subject is reviewed, and a possible mechanism of pathogenesis is discussed.

Erythromelalgia↗
PubMed2001

Acute, severe self-limiting dysautonomia and hypertensive encephalopathy.

We describe two unrelated children with almost identical clinical illnesses comprising of severe, burning dysesthesia, allodynia, hypertensive encephalopathy, and laboratory evidence of both sympathetic and parasympathetic autonomic disturbance after a nonspecific viral illness. No underlying etiology was identified. Both patients displayed complete resolution of their clinical and radiologic findings after a number of months, and there was no recurrence over a follow-up period of 17 months to 4 years. Treatment of the patients' dysesthesias proved difficult, requiring multiple analgesics and intensive physiotherapy. We speculate that their illnesses may represent a pure autonomic variant of Guillain-Barré syndrome.

Acute Disease↗
PubMed2001

A single institutional experience with 43 pregnancies in essential thrombocythemia.

OBJECTIVES: We describe the periconception circumstances and outcome of 43 consecutive pregnancies in an unselected group of young women with essential thrombocythemia (ET). PATIENTS AND METHODS: We retrospectively studied 74 consecutive cases of young women with ET seen at our institution, among whom 43 pregnancies occurred in 20 patients. RESULTS: Of the 43 pregnancies, 22 (51%) were successful (21 term and 1 preterm live births) and 21 (49%) ended in miscarriages (1 ectopic pregnancy, 2 elective abortions, 16 first-trimester spontaneous abortions, 1 stillbirth at 22 wk, and 1 abruptio placentae at 33 wk). Management of ET at the time of conception included either no specific therapy (16 cases) or the use of aspirin alone (24 cases), a cytoreductive agent (2 cases), or heparin (1 case). There were no significant differences with respect to platelet count or the effect of treatment with aspirin, either at the time of conception or during the first trimester, among cases of successful pregnancies (22), all miscarriages (21), or first-trimester spontaneous abortions (16). The findings were similar when the analysis was restricted to only first-time pregnancies. In patients with multiple pregnancies, the outcome of a subsequent pregnancy was not predicted by the outcome of the first. In general, in successful cases the last two trimesters were mostly uneventful, with healthy offspring being reported in all cases. CONCLUSIONS: Pregnant patients with ET have an increased risk of first-trimester abortion which is not predictable by preconception platelet count or aspirin therapy. In addition, our experience does not support the use of prophylactic platelet apheresis during delivery.

Abortion, Induced↗
PubMed2000

A refractory case of secondary erythermalgia successfully treated with lumbar sympathetic ganglion block.

A 59-year-old Japanese man with myasthenia gravis, who had a 10-year history of temperature-sensitive pain in the lower extremities, i.e. improved by cooling and worsened by warming, consulted us because the pain had become intolerable during the previous 4 months. Bilateral erythema, swelling and large ulcers were noted on the calves, dorsal aspects of the feet, and soles. Laboratory data showed thrombocythaemia and a positive antibody to the acetylcholine receptor, but were negative for antinuclear and antiphospholipid antibodies. A diagnosis of secondary erythermalgia was made because of the clinical features, the laboratory data, and the lack of family history of this disease. Although steroid pulse therapy, oral aspirin and antiserotonin drugs were ineffective, bilateral lumbar sympathetic ganglion block succeeded in relieving the severe pain and curing the ulcers. The clinical course in our patient suggests that sympathetic ganglion block may be one of the most effective treatments for secondary erythermalgia. Although the mechanism of this effect is uncertain, microcirculation disturbance in secondary erythermalgia, if any, may be improved by this block.

Erythromelalgia↗