Camurati-Engelmann disease type 2

(OMIM phenotype number %606631)

Camurati-Engelmann Disease Type II, called also "Progressive diaphyseal dysplasia with striations of the bones", is a rare sclerosing bone dysplasia. Until now, few clinical cases have been reported. This disorder is characterized by bone striations, manifest radiologically, metadiaphyseal expansion with cortical thickness of the tubular bones, and coarse, thick bony trabeculae of the tubular bones, spine, flat bones and minimal sclerosis in the petromastoid region. Serum alkaline phosphatase (ALP) levels are high. Patient affected by this disorder are usually asymptomatic or have mild limb pains. Autosomal dominant transmission has been proposed, but affected males outnumber affected females (see also CAEND).


TGF-β1 gene, 19q13.2 (OMIM gene/locus number *190180)


Marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, cortical thickening of the diaphyses. Metaphyseal expansion of the long bones, coarse and thick trabeculae of the long and short tubular bones, striations in the spinal, pelvic, and long bones, and cranial sclerosis restricted to the petromastoid regions.

Main biochemical alterations

High ALP, high ESD.

Other resources


  1. Nishimura G, Nishimura H, Tanaka Y, et al. Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet. 2002 Jan 1;107(1):5-11.
  2. Janssens K, Vanhoenacker F, Bonduelle M, et al.  Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11.
  3. Camurati-Engelmann Disease. Wallace SE, Wilcox WR. Editors In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  4. Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Nov;26(11):2717-8.
  5. De Vernejoul MC, Kornak U. Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci. 2010 Mar;1192:269-77.
  6. Ihde LL, Forrester DM, Gottsegen CJ, et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics. 2011 Nov-Dec;31(7):1865-82.