Sclerosing bone dysplasias with involvement of the craniofacial skeleton.

In this review we provide a complete overview of the existing sclerosing bone dysplasias with craniofacial involvement. Clinical presentation, disease course, the craniofacial symptoms, genetic transmission pattern and pathophysiology are discussed. There is an emphasis on radiologic features with a large collection of CT and MRI images. In previous reviews the craniofacial area of the sclerosing bone dysplasias was underexposed. However, craniofacial symptoms are often the first symptoms to address a physician. The embryology of the skull and skull base is explained and illustrated for a better understanding of the affected areas.

Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes.

Hyperostosis cranialis interna (HCI) is a rare autosomal dominant disorder characterized by intracranial hyperostosis and osteosclerosis, which is confined to the skull, especially the calvarium and the skull base. The rest of the skeleton is not affected. Progressive bone overgrowth causes nerve entrapment that leads to recurrent facial nerve palsy, disturbance of the sense of smell, hearing and vision impairments, impairment of facial sensibility, and disturbance of balance due to vestibular areflexia. The treatment is symptomatic. Histomorphological investigations showed increased bone formation with a normal tissue structure. Biochemical parameters were normal. Until today the disease has been described in only three related Dutch families with common progenitors and which consist of 32 individuals over five generations. HCI was observed in 12 family members over four generations. Patients are mildly to severely affected. Besides HCI, several bone dysplasias with hyperostosis and sclerosis of the craniofacial bones are known. Examples are Van Buchem disease, sclerosteosis, craniometaphyseal dysplasia, and Camurati-Engelmann disease. However, in these cases the long bones are affected as well. Linkage analysis in a family with HCI resulted in the localization of the disease-causing gene to a region on chromosome 8p21 delineated by markers D8S282 and D8S382. Interesting candidate genes in this region are BMP1, LOXL2, and ADAM28. Sequence analysis of these genes did not reveal any putative mutations. This suggests that a gene not previously involved in a sclerosing bone dysplasia is responsible for the abnormal growth in the skull of these patients.

Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna.

OBJECTIVE: Hyperostosis cranialis interna (HCI) is an autosomal dominant sclerosing bone dysplasia affecting the skull base and the calvaria, characterized by cranial nerve deficits due to stenosis of neuroforamina. The aim of this study is to describe the value of several neurophysiological, audiometric and vestibular tests related to the clinical course of the disorder. METHODS: Ten affected subjects and 13 unaffected family members were recruited and tested with visual evoked potentials, masseter reflex, blink reflex, pure tone and speech audiometry, stapedial reflexes, otoacoustic emissions, brainstem evoked response audiometry and electronystagmography. RESULTS: Due to the symmetrical bilateral nature of this disease, the sensitivity of visual evoked potentials (VEPs), masseter reflex and blink reflex is decreased (25-37.5%), therefore reducing the value of single registration. Increased hearing thresholds and increased BERA latency times were found in 60-70%. The inter-peak latency I-V parameter in BERA has the ability to determine nerve encroachment reliably. 50% of the patients had vestibular abnormalities. No patient had disease-related absence of otoacoustic emissions, because the cochlea is not affected. CONCLUSION: In patients with HCI and similar craniofacial sclerosing bone dysplasias we advise monitoring of vestibulocochlear nerve function with tone and speech audiometry, BERA and vestibular tests. VEPs are important to monitor optic nerve function in combination with radiological and ophthalmologic examination. We do not advise the routine use of blink and masseter reflex.

Imaging features and progression of hyperostosis cranialis interna.

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.

[Combining CT and scintigraphy: SPECT-CT and PET-CT]. / CT combineren met scintigrafie: SPECT-CT en PET-CT.

In recent years tomographic hybrid scanners have been quickly introduced in nuclear medicine: single-photon emission computed tomography (SPECT)-CT and positron emission tomography (PET)-CT.- Both SPECT-CT and PET-CT techniques provide a higher diagnostic accuracy than conventional (non-tomographic, non-hybrid) bone scintigraphy (bone scan).- Differences between 99mTc hydroxymethylene diphosphonate (HDP) SPECT-CT or 99mTc methylene diphosphonate (MDP) SPECT-CT and 18F-fluoride PET-CT bone scanning relate to image quality, technique, availability, quantification possibilities, radiation dosimetry and financial cost.- Indications for these techniques will especially lie in the field of more accurate detection of skeletal metastases than with bone scans, patients with unexplained musculoskeletal pain, the diagnostic stage after conventional X-ray and/or MRI, and quantification of bone metabolism.

Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base.

Hyperostosis cranialis interna is a hereditary bone disorder that is characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base (OMIM 144755). The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade. This study analyzes the clinical course of 13 affected individuals of three related families (32 individuals). The disorder appears to have an autosomal-dominant transmission pattern. Facial and vestibulocochlear nerve dysfunction are most frequently reported. Surgical decompression of the accessible impaired cranial nerves is advised in the early symptomatic period or even in the presymptomatic period in high-risk individuals.

Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach.

UNLABELLED: Hyperostosis cranialis interna is an autosomal dominant disorder characterised by endosteal hyperostosis and osteosclerosis of the skull base and calvaria, leading to compression and dysfunction of cranial nerves I, II, VII and VIII. CASE REPORT: We report the use of bilateral surgical decompression of the internal auditory canals to treat hyperostosis cranialis interna in an eight-year-old girl presenting with bilateral facial palsy due to hyperostosis cranialis interna. INTERVENTION AND OUTCOME: Using a middle fossa craniotomy approach, both internal auditory canals were unroofed and cranial nerves VII and VIII were decompressed, with a one-year interval between sides. The mimic function recovered. One year post-operatively, the right and left facial sides had been restored to House-Brackmann grades I and II, respectively. CONCLUSION: This is the first report of the use of surgical decompression of the internal auditory canal in a case of hyperostosis cranialis interna. Surgical decompression of the internal auditory canal is recommended therapeutically, but may also be performed prophylactically in younger patients with hyperostosis cranialis interna.

Successful treatment of periungual warts using photodynamic therapy: a pilot study.

AIM: The aim of this pilot study was an investigation on photodynamic therapy (PDT) whether it is a good alternative for treating periungual and subungual warts of the hands. STUDY DESIGN: Twenty patients (mean age: 30.5 years) with a total of 40 periungual and subungual warts were treated with PDT. A photosensitizer, 20%delta-aminolevulinic acid was applied on the warts. After a mean incubation time of 4.6 h (SD: 1.2), the warts were irradiated with the VersaLight for 5-30 min (15.2 +/- 4.3 min). RESULTS: After a mean of 4.5 treatments a mean clearance of 100% was achieved in 90% of the patients. One patient (5%) showed a clearance of 50% and another showed no improvement. The subungual or periungual location of the wart had no influence on the number of treatments or end result (P > 0.05). There were two recurrences during the mean follow-up period of 5.9 months (SD: 7.6). Besides mainly pain and hyperpigmentation, most treatments had no side-effects. CONCLUSION: PDT can offer a good alternative for treating periungual warts of the hands. Larger studies are indicated.