BACKGROUND AND PURPOSE: HCI is a unique autosomal-dominant sclerosing bone dysplasia affecting the skull base and the calvaria, characterized by cranial nerve deficits due to stenosis of neuroforamina, whereby the mandible is affected to a lesser extent. The aim of this study is to describe the specific radiologic characteristics and course of the disorder. MATERIALS AND METHODS: CT scans of affected individuals within 1 family were analyzed and compared with scans of their unaffected family members and with an age- and sex-matched control group. Linear measurements were performed of the inner table, the medulla, and the outer table of different skull locations, and attenuation (density) measurements of the same regions were recorded. Neuroforamina widths were recorded as well. RESULTS: There was significant thickening of the skull in the frontal, parietal, temporal, and occipital regions, which was mainly due to thickening of the inner table of the skull. The attenuation of the deposited hyperostotic bone was lower than normal cortical bone. CONCLUSIONS: HCI is the only genetic bone dysplasia known that is confined to the craniofacial area. The hyperostotic bone is less attenuated than normal cortical bone. The observed radiologic abnormalities explain the possible impairment of the olfactory, optic, trigeminal, facial, and vestibulocochlear nerves.
BACKGROUND AND PURPOSE: HCI is a unique autosomal-dominant sclerosing bone dysplasia affecting the skull base and the calvaria, characterized by cranial nerve deficits due to stenosis of neuroforamina, whereby the mandible is affected to a lesser extent. The aim of this study is to describe the specific radiologic characteristics and course of the disorder. MATERIALS AND METHODS: CT scans of affected individuals within 1 family were analyzed and compared with scans of their unaffected family members and with an age- and sex-matched control group. Linear measurements were performed of the inner table, the medulla, and the outer table of different skull locations, and attenuation (density) measurements of the same regions were recorded. Neuroforamina widths were recorded as well. RESULTS: There was significant thickening of the skull in the frontal, parietal, temporal, and occipital regions, which was mainly due to thickening of the inner table of the skull. The attenuation of the deposited hyperostotic bone was lower than normal cortical bone. CONCLUSIONS: HCI is the only genetic bone dysplasia known that is confined to the craniofacial area. The hyperostotic bone is less attenuated than normal cortical bone. The observed radiologic abnormalities explain the possible impairment of the olfactory, optic, trigeminal, facial, and vestibulocochlear nerves.
Authors: Stephen M Warren; Joshua A Greenwald; Randall P Nacamuli; Kenton D Fong; Han Joon M Song; Tony D Fang; Jonathan A Mathy; Michael T Longaker Journal: J Craniofac Surg Date: 2003-05 Impact factor: 1.046
Authors: Derrick C Wan; Oliver O Aalami; Zhen Wang; Randall P Nacamuli; Florence Lorget; Rik Derynck; Michael T Longaker Journal: Plast Reconstr Surg Date: 2006-09-15 Impact factor: 4.730
Authors: David L Rimoin; Daniel Cohn; Deborah Krakow; William Wilcox; Ralph S Lachman; Yasemin Alanay Journal: Ann N Y Acad Sci Date: 2007-11 Impact factor: 5.691
Authors: Amir Goodarzi; Atrin Toussi; Nicholas Garza; Mirna Lechpammer; Hilary Brodie; Rodney C Diaz; Kiarash Shahlaie Journal: J Neurol Surg B Skull Base Date: 2019-04-22
Authors: Gretl Hendrickx; Vere M Borra; Ellen Steenackers; Timur A Yorgan; Christophe Hermans; Eveline Boudin; Jérôme J Waterval; Ineke D C Jansen; Tolunay Beker Aydemir; Niels Kamerling; Geert J Behets; Christine Plumeyer; Patrick C D'Haese; Björn Busse; Vincent Everts; Martin Lammens; Geert Mortier; Robert J Cousins; Thorsten Schinke; Robert J Stokroos; Johannes J Manni; Wim Van Hul Journal: PLoS Genet Date: 2018-04-05 Impact factor: 5.917