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Progressive Diaphysial Dysplasia (Camurati-Engelmann Disease)


  • 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



  • 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


  • 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


  •  Dense endosteal bone


  • 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


  • 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


  • 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


  • 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



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