The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.
Ankylosis ; Humans ; Hyperostosis ; Hypertelorism ; Joint Diseases ; Mice ; Mutation

Acquired Hyperostosis Syndrome/surgery* ; Humans ; Tonsillectomy

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
Edema ; Ethnic Groups ; Gestational Age ; Hepatomegaly ; High-Frequency Ventilation ; Humans ; Hyperostosis ; Hyperostosis, Cortical, Congenital ; Hypertension, Pulmonary ; Infant, Newborn ; Infant, Premature ; Karyotype ; Korea ; Liver Failure ; Micrognathism ; Parenteral Nutrition ; Polyhydramnios ; Shock, Septic

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome includes a variety of inflammatory bone disorders associated with dermatologic pathology. A 57-year-old female presented with pustulosis on both hands that had persisted for several months. She also had lower back pain without trauma history. On physical examination, tenderness on her lower back and left anterior chest wall pain were found, and claudication was observed. Radiological studies including computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)-CT showed endplate lytic changes in her spine, a focal hypermetabolic lesion in a left rib, and costochondral junction. These findings raised doubt on the presence of metastatic bone lesions, and there was no indication for primary cancer after a complete medical checkup. Palmoplantar pustulosis was well controlled by treatment with acitretin. The osteitis associated with SAPHO syndrome usually presents as osteosclerosis, while reports on osteolytic lesions are rare. We report herein a rare case of SAPHO syndrome associated with bone lesions resembling bone metastasis.
Acitretin ; Acne Vulgaris ; Acquired Hyperostosis Syndrome ; Female ; Hand ; Humans ; Hyperostosis ; Low Back Pain ; Magnetic Resonance Imaging ; Middle Aged ; Neoplasm Metastasis ; Osteitis ; Osteosclerosis ; Pathology ; Physical Examination ; Positron-Emission Tomography ; Ribs ; Spine ; Thoracic Wall

BACKGROUND: Patients with extraspinal diffuse idiopathic skeletal hyperostosis (DISH) involving the hip joint have symptoms like femoroacetabular impingement (FAI). To date, no reported study has determined the clinical outcomes of arthroscopic treatment in extraspinal DISH involving the hip joint. METHODS: A total of 421 hips with FAI that underwent arthroscopic treatment were reviewed retrospectively. We determined the extraspinal involvement of DISH with three-dimensional computed tomography (3D-CT) and simple radiography of the pelvis and hip joint. Clinical outcomes were evaluated at a minimum of 2 years postoperatively. The visual analog scale score (VAS), modified Harris hip score (MHHS), and hip outcome score–activity of daily living scale (HOS-ADL) were used, and hip range of motion (ROM) was evaluated pre- and postoperatively and at the time of the final follow-up. RESULTS: Among the 421 hips (372 patients) with FAI that underwent arthroscopic treatment, 17 hips (12 patients, 4.04%) had extraspinal DISH on the hip joints. The mean age of the patients was 51.5 years. The 3D-CT scans and simple radiographs showed extraspinal DISH on multiple points around the pelvis and hip joint. Nine of the 17 hips (seven of 12 patients) had spinal DISH. At the final follow-up, VAS, MHHS, and HOS-ADL improved significantly from 6.5, 65.3, and 66.6, respectively, to 1.2, 87.8, and 89.5, respectively, and hip flexion and internal rotation improved significantly from 97.7° and 7.9°, respectively, to 117.1° and 18.2°, respectively. CONCLUSIONS: This study has demonstrated that extraspinal DISH involving the hip joint could lead to FAI, and arthroscopic treatment could result in relief of symptoms, including pain and ROM limitation, in extraspinal DISH patients.
Arthroscopy ; Femoracetabular Impingement ; Follow-Up Studies ; Hip ; Hip Joint ; Humans ; Hyperostosis, Diffuse Idiopathic Skeletal ; Pelvis ; Radiography ; Range of Motion, Articular ; Retrospective Studies ; Visual Analog Scale

Diffuse idiopathic skeletal hyperostosis (DISH) is characterized by calcification of different entheseal sites including the anterior longitudinal ligament of the spine. There is no documented information about DISH in Oman. This study determined the prevalence of DISH and associated factors among elderly subjects in a national tertiary care referral hospital in Oman. This retrospective study reviewed chest X-rays of all patients aged more than 50 years, referred to the radiology department of Sultan Qaboos University Hospital in the year 2016, based on the Resnick's criteria. The prevalence was expressed as proportions across age groups and sex. Chi-square test and logistic regression analysis was done to determine the association of the age and sex with DISH. A total of 1305 chest X-rays of patients were reviewed. The overall prevalence of DISH was 10%, with male to female ratio of 1.56:1. The odds ratio for males and increasing age were 1.63 (95% confidence interval [CI], 1.12–2.3; P<0.05) and 1.34 (95% CI, 1.14–1.58; P<0.001) respectively. The prevalence increased with age to maximum of 13% in the age group of ≤80. The pre-stage DISH prevalence was 9.3% and more frequently observed among males. Prevalence of DISH in the national tertiary care referral center in Oman is lower than in Jewish population, almost similar to Japanese, but higher than in Koreans. DISH prevalence is positively associated with age and sex. It is necessary to take appropriate precautionary measures to target the ageing population in Oman, especially elderly males.
Aged* ; Asian Continental Ancestry Group ; Female ; Humans ; Hyperostosis, Diffuse Idiopathic Skeletal* ; Logistic Models ; Longitudinal Ligaments ; Male ; Odds Ratio ; Oman* ; Prevalence* ; Referral and Consultation ; Retrospective Studies ; Spine ; Tertiary Care Centers* ; Tertiary Healthcare ; Thorax

BACKGROUND: Diffuse idiopathic skeletal hyperostosis (DISH) is characterized by ossification of the enthesis. The diagnosis has been mainly based on the chest or whole spine lateral plain film. Recently, chest or thoracolumbar computed tomography (CT) has been reported to be more reliable for the diagnosis of DISH. The purposes of this study were to investigate the prevalence and location of DISH and evaluate the prevalence of comorbidities, such as ossification of the posterior longitudinal ligament (OPLL) and ossification of the ligamentum flavum (OLF), using whole spine CT. METHODS: Whole spine CT scans of patients over 16 years of age who were examined at Cheju Halla General Hospital between February 2011 and December 2016 were reviewed for this study. The diagnosis of DISH was made according to the modified Resnick criteria. The prevalence of DISH in each age decade and its location were evaluated. Also, the prevalence of OPLL and OLF in DISH patients was investigated. RESULTS: The overall incidence of DISH was 24.4% (40 of 164 cases). There was no case of DISH in patients in their 40s and younger. The percentile incidences of DISH in patients in their fifth, sixth, seventh, eighth, and ninth decades were 20.0% (4 of 20 cases), 32.3% (10 of 31 cases), 40.0% (10 of 25 cases), 34.5% (10 of 29 cases), and 27.3% (6 of 22 cases), respectively. A strong positive correlation between the age decade and the incidence of DISH was noted (r = 0.853, p = 0.007). DISH patients had higher incidences of OLF (22.5%) and OPLL (37.5%). The most common location of DISH was the middle thoracic spine (90.0%) followed by the lower thoracic spine (87.5%). There was one case of DISH involving only the cervical spine. CONCLUSIONS: The incidence of DISH diagnosed by CT was higher than we expected. Whole spine CT can be a valuable modality to evaluate the location of DISH in the cervical and lumbar spine and the comorbidity rates of OLF and OPLL.
Comorbidity ; Diagnosis ; Hospitals, General ; Humans ; Hyperostosis ; Hyperostosis, Diffuse Idiopathic Skeletal* ; Incidence ; Jeju-do ; Ligamentum Flavum ; Longitudinal Ligaments ; Prevalence* ; Spine* ; Thorax ; Tomography, X-Ray Computed

Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long bones. Although some reports have described the dentomaxillofacial characteristics of CMD, including increased density of the jaw, malocclusion, and delayed eruption of the permanent teeth, only a few studies have reported the distinct imaging features of CMD on panoramic radiography. This report presents 2 cases of confirmed CMD patients with an emphasis on panoramic imaging features. The patients' images revealed hyperostosis and sclerosis of the maxilla and mandibular alveolar bone, but there was no change in the mandibular basal bone. In both cases, the mandibular condyle heads exhibited a short clubbed shape with hyperplasia of the coronoid process. For patients without clear otorhinolaryngological symptoms, common radiologic features of CMD could be visualized by routinely-taken panoramic radiographs, and further medical examinations and treatment can be recommended.
Head ; Humans ; Hyperostosis ; Hyperplasia ; Jaw ; Malocclusion ; Mandibular Condyle ; Maxilla ; Radiography, Panoramic ; Sclerosis ; Tooth

Parosteal lipoma is a benign tumor of the mature adipose tissue that contacts the periosteum of the underlying bone directly. The tumor commonly arises in the long bones, such as the femur, radius or tibia, and often exhibits underlying osseous changes, such as a cortical hyperostosis or erosion. Parosteal lipoma arising in a finger is rare. Furthermore, there are no reports of parosteal lipoma associated with underlying bizarre parosteal osteochondromatous proliferation. The authors present a rare case of parosteal lipoma of the proximal phalanx of the little finger accompanied by recurrent bizarre paroteal osteochondromatous proliferation in a 64-year-old male patient who had previously undergone an excisional biopsy at the same location 8 years earlier.
Adipose Tissue ; Biopsy ; Femur ; Fingers ; Hand* ; Humans ; Hyperostosis ; Lipoma* ; Male ; Middle Aged ; Periosteum ; Radius ; Tibia

Degenerative disease of the spine affects all people and several distinct degenerative processes can be observed. These processes are associated with characteristic radiographic and pathologic abnormalities. Intervertebral osteochondrosis, spondylosis deformans, osteoarthritis of the facet joint, and diffuse idiopathic skeletal hyperostosis (DISH) are the major forms of degenerative diseases in lumbar spine. Ultrasound is frequently used to guide several lumbar procedures before and after operation, or just for nerve block and intra-articular injection even though fluoroscopy have been used preferentially in interventional procedures due to well visualization of the needle and of the spreading of the injections. However, more and more clinicians have applied ultrasound-guided intervention with several advantages, such as no radiation exposure, relatively inexpensive in cost, and smaller space in occupancy. We reviewed sonoanatomy and well established several ultrasound-guided interventions in lumbar spine, such as medial branch block, facet joint injection, caudal block, and lumbar epidural block.
Fluoroscopy ; Hyperostosis, Diffuse Idiopathic Skeletal ; Injections, Intra-Articular ; Lumbar Vertebrae ; Needles ; Nerve Block ; Osteoarthritis ; Osteochondrosis ; Radiation Exposure ; Spine ; Spondylosis ; Ultrasonography ; Zygapophyseal Joint