Autosomal dominant erythromelalgia

Autosomal dominant erythromelalgia

We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been...

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Veröffentlicht in:American journal of medical genetics 1992-02, Vol.42 (3), p.310-315
Hauptverfasser: Finley, W. H., Lindsey Jr, J. R., Fine, J.-D., Dixon, G. A., Burbank, M. K.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Anti-Inflammatory Agents - therapeutic use
autosomal dominant
Biological and medical sciences
Child
Dermatology
Erythromelalgia
Erythromelalgia - genetics
Erythromelalgia - physiopathology
Erythromelalgia - therapy
Female
Genes, Dominant
Genetic Variation
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
Inflammation - drug therapy
limb redness
limbs
Male
Medical sciences
Middle Aged
pain
Pedigree
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Beschreibung
Zusammenfassung:We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320420310