Table 3.

Genes of Interest in the Differential Diagnosis of Camurati-Engelmann Disease

GeneDisorderMOIFeatures Overlapping w/CEDFeatures Distinguishing From CED
COL1A1 Caffey disease, COL1A1-relatedADBone pain, hyperostosis of diaphyses of long bonesHyperostosis resolves spontaneously over time; additional features of fever, joint laxity, & skin hyperextensibility in Caffey disease.
FAM111A Kenny-Caffey syndrome, dominant, FAM111A-related (FAM111A-KCS) (See FAM111A-Related Skeletal Dysplasias.)ADSclerosis of long bones, cortical thickening, medullary stenosisIn FAM111A-KCS: hypocalcemia, hypoparathyroidism, & delayed fontanelle closure
LRP5 Osteosclerosis, LRP5-related (OMIM 144750)ADDiaphyseal sclerosis (endosteal), cranial nerve involvement in someIn LRP5-related osteosclerosis: wide, deep mandible w/↑ gonial angle (distinct from enlarged mandible found only occasionally in CED)
LRP6 Camurati-Engelmann-like disease, LRP6-related 1ADBone pain, periosteal & endosteal diaphyseal sclerosis of long bonesIn LRP6-related Camurati-Engelmann-like disease: diaphyseal sclerosis of metacarpals; cranial sclerosis spares the cranial vault
SOST Craniodiaphyseal dysplasia, SOST-related (SOST-CDD) (OMIM 122860) 2ADDiaphyseal sclerosis & cranial hyperostosisCranial involvement in CED is milder & rarely results in frontal bossing & proptosis. Choanal stenosis is significant in SOST-CDD. Sclerosis of long bones in CDD is restricted to diaphysis, whereas in CED, metaphyses can also be affected.
SOST-related sclerosing bone dysplasias (sclerosteosis, SOST-related, & endosteal hyperostosis, van Buchem type, SOST-related)ARCranial hyperostosis, cranial nerve involvement, diaphyseal sclerosisIn SOST-related sclerosing bone dysplasias: syndactyly & dysplastic or absent nails
SP7 Craniodiaphyseal dysplasia, SP7-related (SP7-CDD) 3ARCranial hyperostosis, diaphyseal sclerosisIn SP7-CDD: undertubulation of metacarpals, phalanges, & long bones; broad ribs & clavicles
TBXAS1 Hematodiaphyseal dysplasia Ghosal, TBXAS1-related (OMIM 231095)ARDiaphyseal sclerosisSevere anemia; leukopenia & thrombocytopenia in TBXAS1-related hematodiaphyseal dysplasia Ghosal
TNFRSF11B Osteoectasia w/hyperphosphatasia (juvenile Paget disease), TNFRSF11B-related (OMIM 239000)ARCranial hyperostosis, sensorineural hearing loss, sclerosis of long bonesIn juvenile Paget disease: predisposition to fractures & bowing of long bones

AD = autosomal dominant; AR = autosomal recessive; CED = Camurati-Engelmann disease; MOI = mode of inheritance

1.
2.

SOST-related craniodiaphyseal dysplasia has been reported in two affected children [Kim et al 2011]. Since this report no other cases have been published.

3.

From: Camurati-Engelmann Disease

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