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Progressive Diaphysial Dysplasia (Camurati-Engelmann Disease)

DEFINITION AND PATHOGENESIS

  • MIM 131300
  • (Aka Osteopathia Hyperostotica Engelmann-Camurati, Engelmann's disease, Engelmann syndrome, progressive hereditary craniodiaphyseal dysplasia)
  • Described by Camurati in 1922 and by Engelmann in 1929 
    • First described by Cockayne in 1920 in a case report
    • Camurati is credited with reporting the influence of heredity on the disorder
    • Engelmann described it as "osteopathic hyperostotica (sclerotisans) multiplex infatilis"
    • Neuhauser coined the term "progressive diaphyseal dysplasia" in 1948
    • Gulledge and White suggested the term "progressive diaphyseal hyperostosis" in 1951
  • Genetic mutation (R218H) in the TGF-beta1 propeptide latency-associated peptide
    • TGF-beta1 is the only gene known to be associated with Camurati-Engelmann Disease 
    • Regions of latency-associated peptide that govern assembly and stability of the latent TGF-beta1 complex
      • TGF-beta1 gene mutation is on chromosome 19q13.1
      • Hydrophobic residues forming a contiguous epitope on one surface of an amphipathic alpha-helix
        • Ile(53)
        • Leu(54)
        • Leu(57)
        • Leu(59)
      • Interact with TGF-beta1 to form a complex
        • Ionic residues exposed on the other side of the alpha-helix
          • Arg(45)
          • Arg(50)
          • Lys(56)
          • Arg(58)
        • Form binding site for latent TGF-beta-binding proteins
          • Stability of the complex dependent upon covalent dimerization of latency-associated peptide
            • Facilitated by key residues at the dimer interface
              • Phe(198)
              • Asp(199)
              • Val(200)
              • Leu(208)
              • Phe(217)
              • Leu(219)
          • In Camurati-Engelmann Disease, the stability of the latent TGF-beta1 complex is ? because of disrupted dimerization
    • Obligate heteroxygotes for Camurati-Engelmann Disease with TGFbeta-1 mutations have been reported having normal radiographs (though the disease is AD)
    • Mutation has no detectable impact on the development of human IL-17-producing T helper cells in vivo
    • Mutations classified into two groups, all increasing TGF-beta1 activity

IMPORTANCE

CLINICAL FINDINGS

  • AD
  • + family hx
  • Normal alk? (differentiate from Ban Buchem's disease and chronic hyperphosphatasia)
  • Delayed puberty has been reported
  • May be discovered in 1st decade of life but often later in 2nd - 4th decades
    • Range is from birth to 76 yrs
  • Bone pain
    • 52-68% reported with bone tenderness with palpation
      • Most common sx
  • ? muscle mass and muscle weakness (39%) reported
  • ? subcutaneous fat reported
  • ± ? ESR
  • Serum biochemical markers of bone turnover
    • Bone alk? reported ?
    • Total alk? reported ?
    • Osteocalcin reported ?
    • Hydroxyproline reported ?
    • Pyridinoline reported ?
    • Telopeptide carboxy-terminal of type I collagen reported ?
    • Crosslinked N-teleopeptides of type I collagen reported ?
    • Carboxy-terminal propeptide of type I procollagen reported ± ?
    • Tartrate-resistant acid phosphatase reported normal
    • Aminoterminal propeptide of type III procollagen reported normal
    • Aminoterminal propeptide of type I procollagen reported ?
  • ± ? urinary hydroxyproline reported
  • Cranial base involvement give multiple sxs
    • Hearing loss (15-19.0%)
    • HA (10.4%)
    • Exophthalmos (8.2%)
    • Frontal bossing (7.2%)
    • Visual changes reported
    • Vertigo reported
    • Facial weakness and numbness reported
    • Symptomatic brainstem compression reported
    • Cerebellar ataxia reported
    • Hyposmia reported
  • Cranial nerve deficits in 38%
    • (Hearing loss, vision problems, facial paralysis)
  • Clonus has been reported
  • Bowel and bladder incotinence have been reported
  • Rare sxs
    • Anemia
    • Anorexia
    • Hepatosplenomegaly
    • Decreased subcutaneous tissue (21%)
    • Atrophic skin
    • Hyperhidrosis of the hands and feet
    • Delayed dentition
    • Extensive caries
    • Delayed puberty
    • Hypogonadism
      • TGF-beta1 has an important role in steroidogenesis and spermatogenesis
    • Juvenile vertebrobasilar ischemic stroke reported with skull involvement
  • Enchondroma of the distal phalanx of the R SF reported in association in one pt
    • Chromosome 19 loss in cartilage tumors reported
  • Has been reported in a pt with mesenteric fibromatosis

RADIOLOGIC FINDINGS

  • Craniotubular hyperostosis
  • Irregular, inhomogeneous fusiform sclerosis with endosteal > periosteal sclerosis
    • Cortical thickening and medullary cavity narrowing
    • Diaphyseal involvement (94%) with epiphyseal sparing
      • Tibia > femur > humerus > ulna > radius > bones of hands and feet
      • Fibula, clavicle, ribs, and pelvis (63%) involvement reported
        • Bilateral shortened fibulae reported occurring in association in one case
  • Typically symmetrical (differentiated from Ribbing's disease), bony sclerosis, and without mandibular involvement (autosomal dominant sclerosis)
  • Vertebral involvement reported with sclerosis in posterior elements
  • Skull base sclerosis reported to be common (56.6%)
  • Bone scan may be helpful in determining disease activity
  • CT
    • Reveals the skull thickening
  • MRI

GROSS PATHOLOGY

  •  Dense endosteal bone
     

HISTOLOGIC AND MOLECULAR FEATURES

  • Intramembranous ossification disorder although abnormal endochondral ossification has been described
  • A transiliac bone bx in a 9-year-old boy has been reported showing reduced trabecular bone volume
    • Peripheral blood mononuclear cells from pts with Camurati-Engelmann Disease have been reported to enhance osteoclast formation 5X and bone resorption ~ 10X in vitro
  • Serum Ig- A, G, M reported ?
  • EM
    • Myopathic and vascular changes reported
  • Genetic mutation (R218H) in the TGF-beta1 propeptide latency-associated peptide
    • Sequence analysis identifies mutations in TGFbeta-1 in ~ 90% of individuals and is clinically available
      • Most mutations in TGF-beta1 are missense mutations in exon 4 (this exon is sequenced first in testing)
        • Mutant alleles
          • p.Arg218Cys
            • c.652C>T transition (40%)
          • p.Arg218His
            • c.653G>A transition
          • p.Cys225Arg
            • c.673T>C transition
        • Other mutations reported
          • 36insGCTGCTGCT
            • LLL12-13ins
          • p.Tyr241Cys
            • Y81H
          • R156C
          • C652T
            • R218C
          • R218H
          • C664G
            • H222D
          • E169K in exon 2 reported in a Chinese family
            • Some intra-familial clinical variability observed
          • C466T in exon 2 reported in a Moroccan family
            • Arg156Cys
          • T667C
            • Cys223Arg
          • T667G
            • Cys223Gly
          • T667A
            • Cys223Ser
          • T673C
            • Cys225Arg

DIFFERENTIAL CLINICOPATHOLOGIC DIAGNOSIS

  • Ribbing disease
    • May represent a phenotypic variation of Camurati-Engelmann Disease
    • Also associated with mutations in TGFbeta-1
  • Ghosal haemato-diaphyseal dysplasia
  • Craniodiphyseal Dysplasia
  • Kenny-Caffey syndrome type 2
  • Juvenile Paget disease
  • Diphyseal dysplasia with anemia
  • Hyperostosis corticalis generalisata, Worth type
  • SOST-related sclerosing bone dysplasias
    • Sclerosteosis
    • van Buchem disease

DISEASE COURSE AND TREATMENT

  • Slow progression
    • Spontaneous improvement in adolescents has been reported
    • "Self-limited" used by one author
  • Valgus deformity of ankle, weakness affecting pelvic girdle muscles
  • Healing of fxs may be delayed
  • Decompression of skull base thickening and synchronous cranial neuropathies or sxs of ? intracranial pressure reported
  • Corticosteroids have been used for tx
    • Monitor BP monthly
    • Tc-99m HMDP activity decrease has been reported on bone scan after corticosteroids
    • Deflazacort has been reported to produce less adverse effects
      • 1.2 mg/kg/day reported
  • Yearly evaluation includes
  • Losartan may be a helpful adjuvant therapy to minimize the need for steroids to control pain (blue star)  
    • Losartan has an anti-TGFbeta effect
    • Angiotensin II receptor antagonist
  • Bisphosphonates have been recommended to avoid
    • Significant improvement in pain has been reported however with alendronate
    • Value has been disputed
      • Failures also reported
      • Tc-99m HMDP activity increase has been reported on bone scan after bisphosphonates
  • Exessive phosphate has been reported to lead to hypocalcemia and proximal myopathy
  • ? bone pain reported during pregnancy
  • Genetic counseling
    • 50% chance of a child inheriting the TGFB1 mutation
      • Radiographs/nucear bone scanning can screen family members for disease if assymptomatic
    • Prenatal dx is available

SPECIAL CONSIDERATIONS


  • Asynchronous Progressive Diaphyseal Dysplasia

    • Thickening and sclerosis of bilateral femora within several yrs of each other reported in a 42 yr-old Japanese woman
  •   Camurati-Engelmann Disease type II

    • Variation of phenotype described without demonstrable TGFbeta1 mutation
    • Cortical thickening but also metaphyseal expansion, coarse and thick trabeculae of long and short tubular bones, striations in the spinal, pelvic, and long bones, cranial sclerosis restricted to petromastoid regions (similar to hyperostosis generalisata)
      • Clinical manifestations of waddling gait, muscular weakness, bone pain also reported
      • Obliteration of paranasal sinuses and foramina of the skull base reported in two similar familial cases with significant metaphyseal involvement
  • Camurati-Englemann Disease Associated with Tumoral Calcinosis 

    • Two siblings, one with Camurati-Englemann Disease were reported to have tumoral calcinosis
      • 3/4 siblings in the same family were reported to have "snow-capped teeth"
  • Ribbing Disease

    • (Aka Ribbing's Disease)
    • First reported in 1949 by Ribbing
    • May represent a phenotypic variation of Camurati-Engelmann Disease
    • Also associated with mutations in TGFbeta-1
    • Bone scan reported to help in assessing the degree of activity and distribution of the disease and distinguishing it from Camurati-Engelmann Disease
  • Animal Model


    • Mice carrying Camurati-Engelmann-derived mutant TGFB1 has been reported

ADDITIONAL RESOURCES

REFERENCES

Applegate LJ, Applegate GR, Kemp SS: MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: case report. AJNR Am J Neuroradiol. 1991 May-Jun;12(3):557-9.

Aritunes ML, Testa JR, Frazatto R, Barberi JA, Silva RF: Rare osteodysplasia of the temporal bone. Braz J Otorhinolaryngol. 2005 Mar-Apr;71(2):228-32.

Azhar M, Yin M, Bommireddy R, Duffy JJ, Yang J, Pawlowski SA, Boivin GP, Engle SJ, Sanford LP, Grisham C, Singh RR, Babcock GF, Doetschman T: Generation of mice with a conditional allele for transforming growth factor beta 1 gene. Genesis. 2009 Jun;47(6):423-31.

Bartuseviciene A, Samuilis A, Skucas J: Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol. 2009 Nov;38(11):1037-43. Pubmed

Ba? F, Darendeliler F, Petorak I, Sadiko?lu B, Bilir A, Bundak R, Saka N, Günöz H. Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). J Paediatr Child Health. 1999; 35: 401--5.

Bas F, Darendeliler F, Petorak I, Sadikoglu B, Bilir A, Bundak R, Saka N, Gunoz H: Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). J Paediatr Child Health. 1999;35:401-5.

Beighton P, Hamersma H: The orthopaedic implications of the sclerosing bone dysplasias. S Afr Med J. 1980 Oct 11;58(15):600-4. Pubmed

Belinda A, Xavier CF, Saraiva JM, Le Merrer M, Dagoneau N, Huber C, Penet C, Munnich A, Cormier-Daire V: Genetic homogeneity of the Camurati-Engelmann disease. Clin Genet. 2000 Aug;58(2):150-2.

Beranek M, Kankova K, Benes P, Isakovicova-Holla L, Znojil V, Hajek D, Vlkova E, Vacha J: Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy. Am J Med Genet. 2002;109:278-83.

Bondestam J, Pihko H, Vanhanen SL, Brander A, Toiviainen-Salo S, Marttinen E, Makitie O: Skeletal dysplasia presenting as a neuromuscular disorder - report of three children. Neuromuscul Disord. 2007 Oct;26(10):1773-7.

Bondestam J, Mäyränpää MK, Ikegawa S, Marttinen E, Kröger H, Mäkitie O: Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. Clin Rheumatol. 2007 Oct;26(10):1773-7.

Braham RL: Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. Oral Surg Oral Med Oral Pathol. 1969 Jan;27(1):20-6.

Brat HG, Hamoir X, Matthijs P, Lambin P, Van Campenhoudt M: Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. Eur Radiol. 1999;9(1):159-62. Pubmed

Brodrick JD: Luxation of the globe in Engelmann's disease. Am J Ophthalmol. 1977 Jun;83(6):870-3.

Bye AM, Hodson E, Kewley G, Kozlowski K: Progressive diaphyseal dysplasia and a low muscle carnitine. Pediatr Radiol. 1988;18(4):340.

Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V: Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001;109:653-8. Pubmed

Camurati M: Di un raro caso di osteite simmetrica ereditaris degli arti inferiori. Chir Orani Mov 1922;6:662- .

Carlson ML, Beatty CW, Neff BA, Link MJ, Driscoll CL: Skull base manifestations of Camurati-Engelmann disease. Arch Otolaryngol Head Neck Surg. 2010 Jun;136(6):566-75. Pubmed

Castro GR, Appenzeller S, Marques-Neto JF, Bertolo MB, Samara AM, Coimbra I: Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. Clin Rheumatol. 2005;24:398-401.

Cerrato P, Baima C, Bergui M, Grasso M, Lentini A, Azzaro C, Bosco G, Imperiale D, Migone N, Allavena A, Bergamasco B: Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. Cerebrovasc Dis. 2005;20(4):283-4.

Cherie-Ligniere G, Santalena G, Parafioriti A: Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease). Clin Exp Rheumatol. 1999 Mar-Apr;17(2):264.

Clybouw C, Desmyttere S, Bonduelle M, Piepsz A: Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. Genet Couns. 1994;5(2):195-8.

Cockayne EA: Case for diagnosis. Proc Roy Soc Med (Child Sect.) 1920; 13:132-6.

Cohen MM Jr: The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A. 2006 Dec 1;140(23):2646-706. Pubmed

Crisp AJ, Brenton DP: Engelmann's disease of bone--a systemic disorder? Ann Rheum Dis. 1982;41:183- .

Crisp AJ, Brenton DP, Shaw DG: Case report 202: Engelmann disease of bone (diaphyseal dysplasia) with bilateral shorted fibulae. Skeletal Radiol. 1982;8(3):239-40.

Damia Ade B, Moron CC, Perez PA, Molina TC, Mora MM, Fatou AF, Mantano JC:  Bone scintigraphy in Engelmann-Camurati disease. Clin Nucl Med. 2010 Jul;35(7):559-60.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bermuth H, Samarina A, Janniere L, Fieschi C, Stephan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gulle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL: J Exp Med. 2008 Jul 7;205(7):1543-50.

de Vernejoul MC, Benichou O: Human osteopetrosis and other sclerosing disorders: recent genetic developments. Calcif Tissue Int. 2001 Jul;69(1):1-6. Pubmed

Dharmadasa K, Mendis BL, Karunanayake R, de Silva SP: Engelmann-Camurati disease. Ceyton Med J. 1981 Dec;26(4):178-9.

Engelmann G: Ein fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis. ROFO 1929;39:1101-   .

Fallon MD, Whyte MP, Murphy WA: Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form. J Bone Joint Surg Am 1980;62:465-72.

Friedland DR, Wackym PA, Rhee JS, Finn MS: Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. Ann Otol Rhinol Laryngol. 2000;109:160-2.

Gelman MI: Autosomal dominant osteosclerosis. Radiology. 1977 Nov;125(2):289-96. Pubmed

Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita H: Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. Am J Hum Genet. 2000 Jan;66(1):143-7. Pubmed

Gorlin RJ, Spranger J, Koszalka MF: Genetic craniotubular bone dysplasias and hyperostoses: a critical analysis. Birth Defects 1969;5:79-95.

Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD: Genetic control of the circulating concentration of transforming growth factor type beta1. Hum mol Genet. 1999;8:93-7.

Greenspan A: Sclerosing bone dysplasias--a target-site approach. Skeletal Radiol. 1991;20(8):561-83. Pubmed

Gulledge WH, White JW: Englemann's disease (progressive diaphyseal hyperostosis); report of a case. J Bone Joint Surg Am. 1951;33A:793-7.

Gumruk F, Besim A, Altay C: Ghosal haemato-diaphyseal dysplasia: a new disorder. Eur J Pediatr. 1993 Mar;152(3):218-21.

Gupta S, Cheikh IE: Camurati-Engelmann disease in conjucntion with hypogonadism. Endocr Pract. 2005;11:399-407.

Hanson W, Pames LS: Vestibular nerve compression in Camurati-Engelmann disease (progressive diaphyseal dysplasia): review of li8terature and report of one case). Acta Otol.Rhinol Laryngol. 1995 Oct;104(10 Pt 1):823-5.

Hecht JT, Blanton SH, Broussard S, Scott A, Rhoades Hall C, Milunsky JM: Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. Clin Genet. 2001;59:198-200.

Hernández MV, Peris P, Guañabens N, Alvarez L, Monegal A, Pons F, Ponce A, Muñoz-Gómez J: Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family. Calcif Tissue Int. 1997 Jul;61(1):48-51.

Heymans O, Gebhart M, Alexiou J, Sokolow Y: Camurati-Engelmann disease. Effects of corticosteroids. Acta Clin Belg. 1998 Jun;53(3):189-92. Pubmed

Higashi K, Matsuki C: Hearing impairment in Engelmann disease. Am J Otol. 1996 Jan;17(1):26-9. Pubmed

Hinke V, Seck T, Clanget C, Scheidt-Nave C, Ziegler R, Pfeilschifter J: Association of transforming growth factor-beta1 (TGFbeta1) T29 - - > C gene polymorphism with bone mineral density (BMD), changes in BMD, and serum concentrations of TGF-beta1 in a population-based sample of postmenopausal German women. Calcif Tissue Int. 2001;69:315-20.

Hoeffell JC, Mainard L, Leyder B: Camurati-Engelmann disease. A case report. Eur Radiol. 1999;9(9):1932-3.

Hundley JD, Wilson FC: Progressive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg Am. 1973;55:461-74.

Huygen PL, Cremers CW, Verhagen WI, Joosten FB: Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. Int J Pediatr Otorhinolaryngol. 1996 Oct;37(2):129-41.

Iba K, Takada J, Kamasaki H, Oda T, Hatakeyama N, Wada T, Yamashita T: A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. J Bone Miner Metab. 2008;26(1):107-9. Pubmed

Inaoka T, Shuke N, Sato J, Ishikawa Y, Takahashi K, Aburano T, Makita Y: Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Englemann disease). Clin Nucl Med. 2001 Aug;26(8):680-2.

Jacobson HG: Dense bone--too much bone: radiological considerations and differential diagnosis. Part I. Skeletal Radiol. 1985;13(1):1-20. Pubmed

Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W: Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Nat Genet. 2000 Nov;26(3):273-5. Pubmed

Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guanabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W: Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. J Med Genet. 2000 Apr;37(4):245-9. Pubmed

Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W: Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24.

Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W: J Med Genet 2006 Jan;43(1):1-11. Pubmed

Kaftori JK, Kleinhaus U, Naveh Y: Progressive diaphyseal dysplasia (Camurati-Englemann): Radiographic follow-up and CT findings. Radiology 1987;164:777.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K: TGFB1 mutations in four new familites with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet A. 2004 May 15;127A(1):104-7. Pubmed

Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K: Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000 Sep;26(1):19-20. Pubmed

Kirkpatrick DB, Rimoin DL, Kaitila I, Goodman SJ: The craniotubular bone modeling disorders: a nuerosurgical introduction to rare skeletal dysplasias with cranial nerve compression. Surg Neurol. 1977 Apr;7(4):221-32. Pubmed

Kormas N, Diamond T, Shnier R: Camurati-Engelmann disease: two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. J Bone Miner Res. 1998 Jul;13(7):1203-7.

Krohel GB, Wirth CR: Engelmann's disease. Am J Ophthalmol. 1977 Oct;84(4):520-5.

Kumar B, Murphy WA, Whyte MP: Progressive diaphyseal dysplasia (Engelmann disease): Scintigraphic-radiographic-clinical correlations. Radiology. 1981 Jul;140(1):87-92. Pubmed

Lazzarone C, Cartesegna M, Crova M, Calorio D: Progressive diaphyseal dysplasia: Camurati-Engelmann's disease. Ital J Orthop Traumatol. 1983 Mar;9(1):109-14.

Low LC, Stephenson JB, Stuart-Smith DA: Progressive diaphyseal dysplasia mimicking childhood myopathy: clinical and biochemical response to prednisolone. Aust Paediatr J. 1985 Aug;21(3):193-6. Pubmed

Lücke T, Illsinger S, Das AM, Schirg E, Harmann H: Pitfalls in paediatric gait disturbances: painless bone diseases. Eur J Pediatr. 2006 Dec;165(12):909-12.

Lundy MM, Billingsley JL, Redwine MD, Turnbull GL, Brown TJ: Scintigraphic findings in progressive diaphyseal dysplasia. J Nucl Med. 1982 Apr;23(4):324-5.

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A: Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? Am J Med Genet. 2000 Mar 13;91(2)?153-6.

McAlister WH, Herman TE: Osteochondrodysplasias, Dysostoses, Chromosomal Aberrations, Mucopolysaccharidoses, and Mucolipidoses. In Resnick D: Diagnosis of Bone and Joint Disorders, 3rd Ed, W. B. Saunders Company, Philadelphia, 1995, p. 4205.

McGowan NW, MacPherson H, Janssens K, Van Hul W, Frith JC, Fraser WD, Ralston SH, Helfrich MH: A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. J Clin Endocrinol Metab. 2003 Jul;88(7);3321-6.

Minford M, Hardy GH, Forsythe WI, Fitton JM, Rowe VL: Engelmann's disease and effects of cortical steroids. Case report. J Bone Joint Surg Br. 1981:63:597-600. Pubmed

Mishra GK, Mishra M, Vernekar J, Tehrai M, Patel BR: Progressive diaphyseal dysplasia--Englemann's disease. Indian Pediatr. 1987 Nov;24(11):1052-4.

Momose M, Yoshida K, Yanagisawa S, Kadoya M: Camurati-Engelmann disease on a 99mTc-HMDP bone scan. Eur J Nucl Med Mol Imaging. 2008 Nov;35(11):2143.

Moudgil A, Agarwal RK, Pati H, Bagga A, Saraya AK: Camurati-Engelmann disease with recurrent bone marrow hypoplasia. Indian J Pediatr. 1995 Mar-Apr;52(415):201-4.

Mukkada PJ, Franklin T, Rajeswaran R, Joseph S: Ribbing disease. Indain J Radiol Imaging. 2010 Feb;20(1):47-9. Pubmed

Nagasawa H, Okada K, Nanjo H, Sasaki H, Chida S, Shimada Y: Unusual association between enchondroma and Camurati-Engelmann disase: a case report. Ups J Med Sci. 2010 May;115(2):157-60.

Narang D, Bharati B, Bhattacharya A, Mittal BR: Radionuclide bone scintigraphy in Engelmann-Camurati disease. Arch Dis Child. 2004 Aug;89(8):737.

Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M: Progressive diaphyseal dysplasia: Genetics and clinical and radiographic manifestations. Pediatrics. 1984;74:399-405. Pubmed

Naveh Y, Ludatshcer R, Alon U, Sharf B: Muscle involvement in progressive diaphyseal dysplasia. Pediatrics. 1985 Dec;76(6):944-9. Pubmed

Neuhauser EBD, Schwachmann H, Wittenborg M, Cohen, J: Progressive diaphyseal dysplasia. Radiology. 1948;51-11-22   .

Newman A, Trunk G: Late Roentgen sequelae of Engelmann's Disease. Internat Surg. 1970;53:28-32.

Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N: Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet. 2002 Jan 1;107(1):5-11.

Panja S, Chatterjee S, Basak M, Chatterjee R: Progressive diaphyseal dysplasia (Camurati-Engelmann's disease). Indain Pediatr. 1984 Aug;21(8):653-5.

Park SJ, Yoon CS, Park HW, Choi JR, Chung JS, Lee KA: The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. J Korean Med Sci. 2009 Aug;24(4):737-40.

Paul LW: Hereditary multiple diaphyseal sclerosis (Ribbing). Radiology. 1953;60:412-6.

Raffaelli P, Ronzini MF: Camurati-Engelmann's disease. A case report. Ital J Orthop Traumatol. 1988 Jun;14(2):267-71.

Ramanan AV, Hall MJ, Baildam EM, Mughal Z: Camurati-Engelmann disease--a case report and literature review. Rheumatology (Oxford). 2005 Aug;44(8):1069-72.

Resnick D, Niwayama G: Enostosis, Hyperostosis, and Periostitis. In Resnick D: Diagnosis of Bone and Joint Disorders, 3rd Ed, W. B. Saunders Company, Philadelphia, 1995, pp. 4418-20.

Ribbing S: Hereditary, multiple, diaphyseal sclerosis. Acta Radiol 1949;31:522-36.

Roth J: Hyperostosis generalisata, Camurati-Engelmann type. Harefluah. 1957 May 1;52(9):223-9.

Saito T, Kinoshita A, Yoshiura KI, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N: Domain-specific mutations of a transformaing growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. J Biol Chem. 2001 Apr 13;276(15):11469-72. Pubmed

Sakai T, Matsui Y, Katoh S, Yukata K, Hamada D, Takata Y, Yokoi H, Yasui N: Asynchronous progressive diaphyseal dysplasia. Mod Rheumatol. 2005;15(6):450-3.

Shier CK, Krasicky GA, Ellis BI, Dottamasu SR: Ribbing's disease: radiographic-scintigraphic correlation and comparative analysis with Engelmann's disease. J Nucl Med. 1987 Feb;28(2):244-8. Pubmed

Simpson RK Jr, Fischer DK, Gall GK, Rose JE: Fatal cerebellar herniation secondary to Camurati-Englemann's disease. J Neurol Neurosurg Psychiatry. 1988 Oct;51(10):1349-52.

Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC: Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. Osteoporos Int. 2005 Sep;16(9):1167-70.

Smith R, Walton RJ, Corner BD, Gordon IR: Clinical and biochemical studies in engelmann's disease (progressive diaphyseal dysplasia). Q J Med. 1977 Apr;46(182):273-94. Pubmed

Sparkes RS, Graham CB: Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972 Mar;9(1):73-85. Pubmed

Sundaram P, Shanbhag VV: "Engelmann-Camurati disease". Report of a case. Indian J Med Sci. 1973 Oct;27(10):779-82.

Tang Y, Wu X, Lei W, Pang L, Wan C, Shi Z, Zhao L, Nagy TR, Peng X, Hu J, Feng X, Van Hul W, Wan M, Cao X: TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. Nat Med. 2009 Jul;15(7):757-65. Pubmed

Thurmon TF, Jackson J: Tumoral calcinosis and Engelmann disease. Birth Defects Orig Artic Ser. 1976;12(5):321-5.

Tibesar RJ, Brissett AE, Shallop JK, Driscoll CL: Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. Otolaryngol Head Neck Surg. 2004 Dec;131(6):1004-6.

Van Buchem FS, Hadders HN, Ubbens R: An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris. Acta Radiol 1955;44:109-120.

van Dalsem VF, Genant HK, Newton TH: Progressive diaphyseal dysplasia. Report of a case with thirty-four years of progressive disease. J Bone Joint Surg Am. 1979 Jun;61(4):596-8.

Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000;10(9):1423-33. Pubmed

Vanhoenacker FM, Janssens K, Van Hul W, Gershoni-Baruch R, Brik R, De Schepper AM: Camurati-Engelmann disease. Review of radioclinical features. Acta Radiol. 2003 Jul;44(4):430-4. Pubmed

Verbruggen LA, Bossuyt A, Schreuer R, Somers G: Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia. J Rheumatol. 1985 Aug;12(4):809-13.

Vidal-Sicart S, Pons F, Guanabens N, Herranz R: Bone scan in Camurati-Engelmann disease. Clin Nucl Med. 1998 Apr;23(4):237-8. Pubmed

Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR: Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann Disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47.

Wallace SE, Wilcox WR: Camurati-Engelmann Disease. In Pagon RA, Bird TC, Dolan CR, Stephens K (editors). GeneReviews [Internet]. Seattle (WA); University of Washington, Seattle; 1993-2004 Jun 25 [updated 2010 Jun 1]. Pubmed

Walton KL, Makanji Y, Chen J, Wilce MC, Chan KL, Robertson DM, Harrison CA: Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex. J Biol Chem. 2010 May 28;285(22):17029-37. Pubmed

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K: A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. J Hum Genet. 2002;47(9):478-83.

Wirth CR, Kay J, Bourke R: Diaphyseal dysplasia (Engelmann's syndrome). A case report demonstrating a deficiency in cortical Haversian system formation. Clin Orthop 1982;171:186- .

Wu S, Liang S, Yan Y, Wang Y, Li F, Deng Y, Huang W, Yuan W, Luo N, Zhu C, Wang Y, Li Y, Liu M, Wu X: A novel mutation of TGF beta 1 in a Chinese family with Camurati-Engelmann disease. Bone. 2007 Jun;40(6):1630-4.

Yen JK, Bourke RS, Popp AJ, WIrth CR: Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report. J Neurosurg. 1978 Jan;48(1):138-42.

Yoshioka H, Mino M, Kiyosawa N, Hirasawa Y, Morikawa Y, Kasubuchi Y, Kusunoki T: Muscular changes in Engelmann's disease. Arch Dis Child. 1980 Sep;55(9):716-9. Pubmed

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