Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

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, symmetrical...

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Autores:
Hernández-Cassis, Carlos
Vogel, Claudia K.
Hernandez, Tatiana P.
Econs, Michael J.
Iglesias, Melitza
Iglesias, Antonio
Levis, Silvina
Roos, Bernard A.
Howard, Guy A.
Iglesias Gamarra, Antonio
Tipo de recurso:
Article of journal
Fecha de publicación:
2003
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/4059
Acceso en línea:
http://hdl.handle.net/20.500.12495/4059
https://doi.org/10.1210/jc.2001-011428
Palabra clave:
Osteosclerosis
Hematopoyesis
Hiperostosis
Rights
openAccess
License
Acceso abierto
Description
Summary: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.