MelorheostosisM85.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 11.08.2022

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Synonym(s)

Camurati-Engelmann disease; hyperostocious osteopathy; Léri-Joanny Syndrome; Léri-Johanni Syndrome; Léri Syndrome; Osteosis eburnisans monomelica

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HistoryThis section has been translated automatically.

Léri and Joanny, 1922

DefinitionThis section has been translated automatically.

Rare, enostal, partially periosteal sclerosis with involvement of the diaphyses. Spreading of the sclerosis along the bones like a drop of wax flowing down the candle. Partial combination with skin changes of circumscribed scleroderma or chronic hereditary lymphedema (see below lymphedema, primary). Apparently there are close etiological relationships with osteopoiciliea (see Buschke-Ollendorf syndrome below).

EtiopathogenesisThis section has been translated automatically.

The cause is mutations in the MAP2K1 gene. Autosomal recessive and autosomal dominant inheritance of circumscribed lesions of sensory nerve fibers are discussed, since the bone changes can be assigned to sclerotomes.

ManifestationThis section has been translated automatically.

Mostly infestation of the long tubular bones, pelvic bones, metatarsalia or metacarpalia.

Clinical featuresThis section has been translated automatically.

Integument: Circumscribed scleroderma-like thickening (fibrosis) of skin and fascia, occasionally in the sense of linear scleroderma, also with fibrolipomatous changes. Sporadic patchy hyperpigmentation of affected extremities has been described.

Extracutaneous manifestations: Soft tissue contractures with limitation of joint mobility. Shortening, deformity, malposition of an extremity. Pain in the affected limb, especially after completion of growth.

Skin changes and contractures may occur long before bone changes. Pain after completion of growth is explained by irritation of the sensitive periosteum by the extracortical bone growths.

DiagnosisThis section has been translated automatically.

In the x-ray image longitudinal, band-shaped, on round or flat bones in longer existing cases irregularly limited subperiosteal, cortical hyperostoses, shortening and deformation of affected bones reminiscent of a dripping candle.

TherapyThis section has been translated automatically.

Orthopaedic care. Treatment of other changes depending on the clinical appearance.

LiteratureThis section has been translated automatically.

  1. Debeer P (2003) Melorheostosis in a family with autosomal dominant osteopoicilosis: Report of a third family. On J Med Genet 119A: 188-193
  2. Endo H et al (2003) Increased procollagen alpha1(I) mRNA expression by dermal fibroblasts in melorheostosis. Br J Dermatol 148: 799-803
  3. Fimiani M et al (1999) Linear melorheostotic scleroderma with hypertrichosis sine melorheostosis. Br J Dermatol 141: 771-722
  4. Leri A, Joanny AP (1922) Une affection non décriete des os: Hyperostosis "en coulée" on toute la longueur d'un membre ou "mélorhéostose". Bulletins and memoirs of the Société medicale des hôpitaux de Paris 46: 1141-1145
  5. Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. Skeletal radiol 4: 57-71
  6. Nevin NC et al (1999) Melorheostosis in a family with autosomal dominant osteopoicilosis. At J Med Genet. 82: 409-414
  7. Roger D et al (1994) Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas. Dermatology 188: 166-168
  8. Whyte MP, Murphy WA, Fallon MD, Hahn TJ (1981) Mixed-sclerosing-bone-dystrophy. Skeletal Radiol 6: 95-102
  9. Younge D, Drummond DS, Herring J, Cruess RL (1979) Melorheostosis in children. J Bone Jt Surg 61-B: 415-418

Authors

Last updated on: 11.08.2022

Author: Prof. Dr. med. Peter Altmeyer