77 Osteopoikilosis
Osteopoikilosis 811
Osteopathia condensans disseminata,
osteitis condensans generalisata, spotted bones, Buschke-Ollerdorff syndrome included
Asymptomatic in most patients, spotty skin lesions and connective tissue nevi in a few; circumscribed sclerotic areas at bone ends
Frequency: 1 in 20,000.
Genetics
Autosomal dominant (OMIM 166700), caused by mu- tations in the LEMD3 gene; allelic to melorheostosis.
Clinical Features
• No clinical findings in many patients
• Skin lesions in others, including yellow or flesh- colored papular or nodular nevi; elevated, whitish fibrocollagenous infiltrations (dermatofibrosis lenticularis disseminata); predisposition to keloid formation; scleroderma-like lesions
• Occasionally, muscular fibrosis, joint contractures, stiff and/or painful joints
• Hoarse voice (vocal cord leukoplakia) Differential Diagnosis
• Melorheostosis
• Mixed sclerosing bone dystrophies
• Osteoblastic metastases, mastocytosis, osteosar- comatosis
Radiographic Features Generalized Bone Defects
• Multiple small, well-defined, oval or round foci of bone sclerosis clustered in medulla (metaphyses and epiphyses of tubular bones, carpals, tarsals, pelvis, and shoulder girdles) in periarticular osseous regions
• Distribution is symmetrical, and lesions can in- crease or decrease in size and number, especially in children and adolescents; occasionally, sclerotic foci coalesce into longitudinal bands
• Discrete lucent areas surrounded by dense bone
Bibliography
Berlin R, Hedensio B, Lilja B, Linder L. Osteopoikilosis – a clin- ical and genetic study. Acta Med Scand 1967; 181: 305–14 Calvo Romero JM, Lorente Moreno R, Ramos Salado JL,
Romero Requena J. Osteopoikilosis: report of 3 cases and review of the literature. An Med Int 2000; 17: 29–31 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- Ollendorff syndrome and melorheostosis. Nat Genet 2004;
36: 1213–8
Lagier R, Mbakop A, Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984; 11: 161–8 Melnick JC. Osteopathia condensans disseminata (osteopoik-
ilosis): a study of a family of 4 generations. AJR Am J Roentgenol 1959; 82: 223–8
Reinhardt LA, Rountree CB, Wilkin JK. Buschke-Ollendorff syndrome. Cutis 1983; 31: 94–6
Schnur RE, Grace K, Herzberg A. Buschke-Ollendorff syn- drome, otosclerosis, and congenital spinal stenosis. Pediatr Dermatol 1994; 11: 31–4
Schorr WF, Opitz JM, Reyes CN. The connective tissue nevus- osteopoikilosis syndrome. Arch Dermatol 1972; 106:
208–18
Walpole I, Manners PJ. Clinical considerations in Buschke- Ollendorff syndrome. Clin Genet 1990; 37: 59–63
Weisz GM. Lumbar spinal canal stenosis in osteopoikilosis.
Clin Orthop 1982; 166: 89–92
Whyte MP, Murphy WA, Fallon MD, Hahn TJ. Mixed-scleros- ing-bone-dystrophy: report of a case and review of the literature. Skeletal Radiol 1981; 6: 95–102
Young LW Gershman I, Simon PR. Radiological case of the month. Am J Dis Child 1980; 134: 415–6
O
Osteopoikilosis 812
Fig. 77.1 a–c. Patient 1, age 27 years. Note multiple small, well-defined, round areas of bone sclerosis in sacrum, pelvis, and proximal or distal portions of long bones.
Two quite large islets of sclerosis are seen in supra-acetabular portion of left ilium (a). Note that bone tissue is normal in every other way
a
c
b
Osteopoikilosis 813
O
Fig. 77.2 a–c. Patient 1, age 27 years. Typical round or oval foci of bone sclerosis are found a in periarticular regions of tubular bones and also in b carpal and c tarsal bones
a
b c
