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Diaphyseal sclerosis of the upper limbs

MedGen UID:
871082
•Concept ID:
C4025547
•
Disease or Syndrome
Synonym: Increased bone density in central part of long bone of upper limbs
 
HPO: HP:0003860

Definition

An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiaphyseal sclerosis of the upper limbs

Recent clinical studies

Etiology

Van Buchem disease: lifetime evolution of radioclinical features.
Vanhoenacker FM, Balemans W, Tan GJ, Dikkers FG, De Schepper AM, Mathysen DG, Bernaerts A, Hul WV
Skeletal Radiol 2003 Dec;32(12):708-18. Epub 2003 Oct 1 doi: 10.1007/s00256-003-0675-4. PMID: 14520501
Hyperostosis generalisata with striations of the bones, a further report in two related families.
Jones DN
Clin Radiol 1979 Jan;30(1):87-94. doi: 10.1016/s0009-9260(79)80055-0. PMID: 421429

Diagnosis

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622
Hyperostosis generalisata with striations of the bones, a further report in two related families.
Jones DN
Clin Radiol 1979 Jan;30(1):87-94. doi: 10.1016/s0009-9260(79)80055-0. PMID: 421429
Radiology of the autosomal dominant form of craniometaphyseal dysplasia.
Spiro PC, Hamersma H, Beighton P
S Afr Med J 1975 May 17;49(21):839-42. PMID: 1135718
A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.
Lenz WD, Majewski F
Birth Defects Orig Artic Ser 1974;10(12):133-6. PMID: 4376705

Therapy

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622
Characteristics and bisphosphonate treatment of a patient with juvenile osteoporosis.
Hoekman K, Papapoulos SE, Peters AC, Bijvoet OL
J Clin Endocrinol Metab 1985 Nov;61(5):952-6. doi: 10.1210/jcem-61-5-952. PMID: 3840174

Prognosis

Radiology of the autosomal dominant form of craniometaphyseal dysplasia.
Spiro PC, Hamersma H, Beighton P
S Afr Med J 1975 May 17;49(21):839-42. PMID: 1135718

Clinical prediction guides

Van Buchem disease: lifetime evolution of radioclinical features.
Vanhoenacker FM, Balemans W, Tan GJ, Dikkers FG, De Schepper AM, Mathysen DG, Bernaerts A, Hul WV
Skeletal Radiol 2003 Dec;32(12):708-18. Epub 2003 Oct 1 doi: 10.1007/s00256-003-0675-4. PMID: 14520501

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