34 Diaphyseal Dysplasia
Camurati-Engelmann disease, Engelmann disease
Leg pain due to gross thickening of the bone cortex, delayed ambulation, thin musculature with dispro- portionately long limbs, neuromuscular weakness
Frequency: Rare (more than 200 published cases);
prevalence lower than 1 in 1,000,000 births.
Genetics
Autosomal dominant (OMIM 131300), with marked variation in expression; the TGFb1 gene has been mapped to 19q13.1; genetically heterogeneous, type II without mutations in TGFb1 (OMIM 606631).
Clinical Features
• Thin, asthenic habitus
• Muscular weakness and hypoplasia, fatigability, waddling gait
• Scoliosis, lumbar hyperlordosis
• Hypogonadism
• Hepatosplenomegaly
• Progressive, symmetrical leg pain, mainly in fe- mur and tibia, onset in childhood or adolescence (4–10 years, but can be asymptomatic for many decades)
• Increased intracranial pressure, cerebellar tonsil herniation
• Cranial nerve dysfunction
• Considerable variability of severity of the scleros- ing process
Differential Diagnosis
• Diaphyseal dysplasia with anemia
• Ribbing disease (OMIM 601477)
Radiographic Features Extremities
• Irregular, spindle-like cortical thickening, sclero- sis, and expansion (internal and external) of mid- diaphyses of long tubular bones
• Narrowing of medullary cavity
• Metaphyses and epiphyses occasionally involved in late stages, epiphyses not involved
Skull
• Sclerosis of the skull base
• Occasionally, sclerosis of variable degree of the cranial vault and face, including the mandible
• Narrowing of cranial nerve passages
• Dental caries Spine
• Sclerosis of cervical vertebrae, most prominent in the posterior portions of the vertebral bodies and neural arches (late)
• Lumbar lordosis, scoliosis Chest
• Sclerosis of clavicle and scapulae (late)
Diaphyseal Dysplasia 676
Fig. 34.1. Patient 1, 19 years. Marked hyperostosis and sclero- sis of the calvarium and skull base
Diaphyseal Dysplasia 677
D
Fig. 34.2 a, b. Patient 1, 19 years. Note cortical thickening due to endosteal and periosteal bone proliferation, resulting in fusiform enlargement of the femora. Note also undermodeled
femoral metaphyses. Mild involvement of the iliac bones can also be seen
a b
Fig. 34.3. aPatient 1, 19 years. b, c. Patient 2, adult. Note marked variability of the degree of sclerosis across patients (variability is also intrafamilial, however)
a b c
Bibliography
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68: 686–90
Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomi- ta Ha. Genetic mapping of the Camurati-Engelmann dis- ease locus to chromosome 19q13.1-q13.3. Am J Hum Genet 2000; 66: 143–7
Gorlin RJ. Craniotubular bone disorders. Pediatr Radiol 1994;
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Naveh Y, Kaftori JK,Alon U, Ben-David J, Berant M. Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations. Pediatrics 1984; 74: 399–405
Saraiva JM. Progressive diaphyseal dysplasia: a three-genera- tion family with markedly variable expressivity. Am J Med Genet 1997; 71: 348–52
Singleton EB, Thomas JR, Worthington WW, Hild JR. Progres- sive diaphyseal dysplasia (Engelmann’s disease). Radiology 1956; 67: 233–40
Sparkes RS, Graham CB. Camurati-Engelmann disease. Genet- ics and clinical manifestations with a review of the litera- ture. J Med Genet 1972; 9: 73–85
Wilson FC, Hundley JD. Progressive diaphyseal dysplasia.
Review of the literature and report of seven cases in one family. J Bone Joint Surg Am 1973; 55: 461–74
Diaphyseal Dysplasia 678
Fig. 34.4 a, b. Patient 1, 19 years. a The humeral shaft is uni- formly enlarged, while the distal shafts of radius and ulna are unaffected. b Note sclerosis of the 2nd and 3rd metacarpals, with preservation of the epiphyses and carpal bones
a b
