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PubMed1995

[Childhood acromelalgia a propos of a case revealing Fabry's disease].

The occurrence of an acrosyndrome (Raynaud's phenomenon, erythermalgia, acrodynia...) in childhood may be the first manifestation of a general disease. Though it can be an early onset Raynaud's disease, it could also be the first sign of a connective tissue disease (juvenile polyarthritis, mixed connectivitis...) or of a overload disorder. We report a case of childhood-onset acromelalgia leading to the discovery of Fabry's disease. This chromosome X-linked hereditary disorder, resulting in the ubiquitous accumulation of neutral sphingolipids, is usually rapidly suspected by the finding of "boxer-short" angiokeratoma. Diagnosis is confirmed by the ophthalmic examination (cornea verticillata), by the pathological examination of a skin sample, and by the measure of alpha-galactosidase A activity. Treatment is usually only symptomatic, but the discovery of the mutations responsible for the disease could open the way to specific therapy.

Adult↗
PubMed1977

Thrombocythemia as a cause of erythermalgia.

Erythermalgia is a distinctive clinical entity characterized by local redness, warmth, and burning pain in the distal portions of the extremities. In this study, erythemalgia was observed in two patients with myeloproliferative disease. A new theory suggesting abnormally rapid platelet aggregation as a cause of erythermalgia was advanced. The following evidence is presented: (1) histologic evidence of thrombi occluding the arterioles and probably composed of platelet aggregates; (2) reversal of the clinical findings with platelet aggregating drugs, such as heparin sodium and acetylsalicyclic acid; (3) disappearance of the erythemalgia with the adequate control of the myeloproliferative disease.

Aged↗
PubMed1995

[Familial erythermalgia treated with pizotifen].

INTRODUCTION: Primary erythermalgia is a rare acrosyndrome due to paroxystic arteriolar dilatation of extremities that become red and congested with warmth and burning sensation or pain. OBSERVATION: We report herein the observation of a primary erythermalgia affecting 3 degrees in the same family (grandfather, uncle/mother, and children with early onset at 6 years): pizotifene, an antiserotoninergic drug proved to be effective in mother and 14-year-old child who had never drawn benefit from any previous treatment. DISCUSSION: Several etiologies may be responsible for erythermalgia according to the clinical type: primary erythermalgia with pediatric onset, and secondary erythermalgia as a reaction to myeloproliferation, other diseases, drug or heavy metal poisoning. Pathophysiology of primary erythermalgia is not clearly understood and the main concern is therapy: in this respect, pizotifene deserves to be considered as a valuable possibility.

Adolescent↗
PubMed1996

[False erythermalgia].

The differential diagnosis of erythermalgia is sometimes complicated by the absence of consensus on proposed diagnostic criteria. Unwarranted diagnosis can result from any clinical situation leading to burning sensations in the limbs. This can occurs in patients with peripheral neuropathies who often experience dysesthesia when going to bed when the legs are under the covers; in such cases, redness and local warmth are missing. Venous insufficiency can also produce sensations of warm feet, often at retiring, together with edema and an increase in local heat. Algodystrophy, during the inflammatory phase can also mimic erythermalgia with intense pain and local modifications. Nevertheless, the unilateral aspect and persistence of the symptoms together with the post-traumatic situation usually directs the diagnosis. Acrodynia is a rare disease caused by excessive mercury intake and should be discussed in children. Vasomotor impairment in the limbs is the main sign. The red color of the hands and feet is accompanied by intense paroxysmal burn-type pain. The diagnosis is confirmed by high mercury levels in urine. Fabry's disease is a hereditary sphingolipidosis transmitted on chromosome X and occurs predominantly in men, often starting early in childhood with burning sensation in the limbs. The diagnosis should be entertained in children with pseudo-erythermalgia and is confirmed by chromatographic search for abnormal sphingolipids in the urine.

Acrodynia↗