Melorheostosis M85.8

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 11.08.2022

Synonym(s)

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

History
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Léri and Joanny, 1922

Definition
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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).

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Etiopathogenesis
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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.

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

Clinical features
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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.

Diagnosis
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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.

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

Literature
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Debeer P (2003) Melorheostosis in a family with autosomal dominant osteopoicilosis: Report of a third family. On J Med Genet 119A: 188-193
Endo H et al (2003) Increased procollagen alpha1(I) mRNA expression by dermal fibroblasts in melorheostosis. Br J Dermatol 148: 799-803
Fimiani M et al (1999) Linear melorheostotic scleroderma with hypertrichosis sine melorheostosis. Br J Dermatol 141: 771-722
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
Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. Skeletal radiol 4: 57-71
Nevin NC et al (1999) Melorheostosis in a family with autosomal dominant osteopoicilosis. At J Med Genet. 82: 409-414
Roger D et al (1994) Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas. Dermatology 188: 166-168
Whyte MP, Murphy WA, Fallon MD, Hahn TJ (1981) Mixed-sclerosing-bone-dystrophy. Skeletal Radiol 6: 95-102
Younge D, Drummond DS, Herring J, Cruess RL (1979) Melorheostosis in children. J Bone Jt Surg 61-B: 415-418