A 21-year-old man had histologically-confirmed diffuse cutaneous leiomyomatosis. The lesions showed a peculiar distribution in that they predominantly involved several segments of the right side of his body; in addition, less extensive, nonsegmental lesions were present on both sides of the body. Although this case was apparently sporadic, the genetic mechanism of loss of heterozygosity provides a plausible explanation for this unusual presentation. If the patient were heterozygous for the underlying mutation, at an early developmental stage a postzygotic event of loss of heterozygosity would have given rise to a type 2 segmental involvement, resulting in pronounced lesions superimposed on the disseminated tumors of the ordinary phenotype.

Treatment with itraconazol (400 mg once a week) was added for onycomicosis. Two weeks later, the patient was discharged from the hospital with substantial improvement of oedema and erythema, healing of the ulcers and pain relief.This patient represents a typical case of primary erytromelalgia. Diagnosis of this condition is important because proper counselling can enable the patient to minimize the severity and frequency of the painful episodes. Davis et al. in a retrospective review of 168 patients with erythromelalgia showed increased mortality in patients with erythromelalgia compared with matched control subject. 5 Erythromelalgia decreases quality of life and makes normal social function, work and family life impossible. There is no effective therapy for erythromelalgia. Most available clinical evidence regarding treatment of erythromelalgia comes from anecdotal studies. Treatment options include sodium channel blockers, intravenous lidocaine, prostaglandin analogs, serotonin reuptake inhibitors, venlafaxin, 6 opiods, mexiletine, gabapentin and betaadrenergic drugs; however, further research is needed to develop more effective treatments. 7

No abstract

No abstract

No abstract