59 Melorheostosis
Melorheostosis 755
Chronic pain, soft tissue contractures of joints and/or of palmar and plantar fasciae, limb length discrepan- cy, cutaneous lesions
Frequency: 0.9 per 1,000,000 births.
Genetics
All cases sporadic; autosomal dominant (OMIM 155950) not proven; somatic mutations found in the LEMD3 gene, allelic to osteopoikilosis and Buschke- Ollendorff syndrome
Clinical Features
• Intermittent swelling of joints, joint stiffness
• Chronic pain in long bones
• Asymmetrical shortening of affected bones, bow- ing of long bones
• Tendon and ligament shortening
• Weakness and atrophy of muscles
• Tense, erythematous, shiny skin, anomalous pigmentation, induration and edema of subcuta- neous tissue, fibrosis, linear scleroderma
• Vascular anomalies (capillary hemangiomas, lymphangiectasias, vascular nevi, arteriovenous aneurysms, hypertension)
• Usually manifesting after early childhood, joint contractures and skin lesions may precede bony changes by many years
Differential Diagnosis
• Arthrogryposis multiplex
• Paget disease
• Scleroderma
• Fibrous dysplasia
• Buschke-Ollendorff osteopoikilosis
Radiographic Features Generalized Bone Defects
• Longitudinal linear areas of sclerosis along the major axis of the tubular bones, contiguous across joints, with periosteal overgrowths (flowing can- dle wax appearance), limited to a single bone (monostotic form) or involving an entire limb, most commonly in the lower extremities (mono- melic form)
• Polyostotic distribution is possible, with involve- ment of shoulder, pelvis and, less commonly, spine, ribs, and skull
• Extension of hyperostosis into medullary cavity
• Bone deposits within soft tissue, intra-articular osteophytes
• Premature closure of epiphyseal growth plates
• Bowing of affected bones Hands and Feet
• More discrete rounded or squared sclerotic foci in the carpals/tarsals and in the short tubular bones, in some cases reminiscent of osteopoikilosis
Fig. 59.1. Patient 1, young adult.
M
Note large, asymmetrically dis- tributed areas of sclerosis involv- ing the right iliac bone, greater trochanter, and posterior elements of the lumbosacral vertebrae in this patient with polyostotic form of melorheostosis
Bibliography
Beauvais P, Fauré C, Montagne JP, Chigot PL, Maroteaux P.
Leri’s melorheostosis: three pediatric cases and a review of the literature. Pediatr Radiol 1977; 6: 153–9
Fryns JP. Melorheostosis and somatic mosaicism. Am J Med Genet 1995; 58: 199
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ol- lendorff syndrome and melorheostosis. Nat Genet 2004; 36:
1213–8
Nevin NC, Thomas PS, Davis RI, Cowie GH. Melorheostosis in a family with autosomal dominant osteopoikilosis. Am J Med Genet 1999; 82: 409–14
Roger D, Bonnetblanc JM, Leroux-Robert C. Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary hemangiomas. Der- matology 1994; 188: 166–8
Whyte MP, Murphy WA, Fallon MD, Hahn TJ. Mixed-scleros- ing-bone-dystrophy: report of a case and review of the lit- erature. Skeletal Radiol 1981; 6: 95–102
Melorheostosis 756
Fig. 59.2. Patient 1, young adult. Note periosteal overgrowth of shaft of left femur
Fig. 59.3 a, b. Patient 2, 29 years. Sclerotic foci are confined to the left foot and appear in the form of discrete round, square, or rectangular areas involving tarsals and tubular bones
a b
