Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

Carlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. Hernandez, Michael Econs, Melitza Iglesias, Antonio Iglesias, Silvina Levis, Bernard A. Roos, Guy A. Howard, Antonio Iglesias Gamarra

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We studied eight affected and four unaffected individuals from a Colombian family with autosomal dominant diffuse high bone density. Affected individuals have normal, proportional height and high serum alkaline phosphatase activity. Radiographically, affected members exhibit generalized, symmetrically diffuse endosteal hyperostosis of the long bones and skull with narrow medullary cavities and loss of the diploë, respectively. There is no periosteal reaction or decreased hematopoiesis. Furthermore, osteosclerosis affects vertebral bodies, ribs, pelvis, mandible, clavicles, and scapulae. Bone mineral density is 2.4-7.3 SD above the mean for age and gender in affected individuals. Affected vs. unaffected individuals' Z-scores were (mean ± SD) 5.03 ± 1.77 vs. 0.08 ± 0.97, respectively, P = 0.0004). Three affected subjects older than 40 yr old lost bone mass in 6 yr. No dysmorphism, abnormal facial features, bone fractures, or cranial nerve involvement was found. The pattern of inheritance, the absence of asymmetries and malformations, the increased serum alkaline phosphatase, the peak bone mass that appears to decrease physiologically with age, and the involvement of cortical and trabecular bone suggest a new variant of hyperostosis/osteosclerosis that affects the entire skeleton.

Original languageEnglish
Pages (from-to)2650-2655
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume88
Issue number6
StatePublished - Jun 1 2003

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Hyperostosis
Osteosclerosis
Alkaline Phosphatase
Bone
Bone and Bones
Bone Density
Serum
Facial Bones
Scapula
Inheritance Patterns
Clavicle
Cranial Nerves
Bone Fractures
Hematopoiesis
Ribs
Pelvis
Mandible
Skull
Skeleton
Worth syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Hernandez-Cassis, C., Vogel, C. K., Hernandez, T. P., Econs, M., Iglesias, M., Iglesias, A., ... Gamarra, A. I. (2003). Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. Journal of Clinical Endocrinology and Metabolism, 88(6), 2650-2655.

Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. / Hernandez-Cassis, Carlos; Vogel, Claudia K.; Hernandez, Tatiana P.; Econs, Michael; Iglesias, Melitza; Iglesias, Antonio; Levis, Silvina; Roos, Bernard A.; Howard, Guy A.; Gamarra, Antonio Iglesias.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 88, No. 6, 01.06.2003, p. 2650-2655.

Research output: Contribution to journalArticle

Hernandez-Cassis, C, Vogel, CK, Hernandez, TP, Econs, M, Iglesias, M, Iglesias, A, Levis, S, Roos, BA, Howard, GA & Gamarra, AI 2003, 'Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity', Journal of Clinical Endocrinology and Metabolism, vol. 88, no. 6, pp. 2650-2655.
Hernandez-Cassis C, Vogel CK, Hernandez TP, Econs M, Iglesias M, Iglesias A et al. Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. Journal of Clinical Endocrinology and Metabolism. 2003 Jun 1;88(6):2650-2655.
Hernandez-Cassis, Carlos ; Vogel, Claudia K. ; Hernandez, Tatiana P. ; Econs, Michael ; Iglesias, Melitza ; Iglesias, Antonio ; Levis, Silvina ; Roos, Bernard A. ; Howard, Guy A. ; Gamarra, Antonio Iglesias. / Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. In: Journal of Clinical Endocrinology and Metabolism. 2003 ; Vol. 88, No. 6. pp. 2650-2655.
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