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: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. METHODS: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. RESULTS: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. CONCLUSION: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
Aged ; Exome ; Female* ; Humans ; Korea ; Leukocytes ; Mutation, Missense ; Osteoclasts ; Osteopetrosis* ; Osteosclerosis ; Pelvis ; Skeleton ; Skull ; Spine

Osteomesopyknosis is a rare sclerosing bone disorder of autosomal dominant inheritance. We report a first case of osteomesopyknosis in Korea. A 16-year old girl complained of diffuse back pain for 1 year. We performed physical examination, biochemical investigations and imaging studies. A radiograph of spine revealed rugger-jersey vertebra and sandwich vertebra. Bone specific alkaline phosphatase, osteocalcin and C-terminal telopeptides of type I collagen were normal. Only an axial skeleton involvement was shown on the whole body bone scan. This patient was diagnosed to have osteomesopyknosis. Osteomesopyknosis is characterized by normal level of bone turnover marker and an axial bone involvement. Osteomesopyknosis can be occurred in Korea and needs to be considered when patients, especially young patients, suffer from back pain and have only axial osteosclerosis.
Alkaline Phosphatase ; Back Pain ; Bone Diseases ; Collagen Type I ; Female ; Humans ; Korea ; Osteocalcin ; Osteosclerosis ; Physical Examination ; Skeleton ; Spine ; Wills

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.
Acro-Osteolysis ; Bone Density ; Cathepsin K ; Constriction, Pathologic* ; Cranial Sutures ; Cysteine Proteases ; Female ; Gait ; Humans ; Laminectomy ; Ligaments* ; Magnetic Resonance Imaging ; Middle Aged ; Osteosclerosis ; Physical Examination ; Pycnodysostosis* ; Radiography ; Sequence Analysis, DNA ; Sequence Deletion ; Spinal Canal*

Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear bone dysplasia at the long bone radiographically and sclerotic change at the cranium. The purpose of this case report is to study the symptoms and treatments of osteomyelitis in a patient with OS-CS. A 41-year-old patient had pus discharge from a fistula at the mental region and increase in radiolucencies with sequestra in panoramic radiograph images. Computed tomography (CT) as well as radiograph images for the whole skeleton were taken. The patient was diagnosed with OS-CS. Sequestrectomy and fistulectomy were performed. The patient recovered and no relapse occurred within six months after surgery. For diagnosis of OS-CS, CT and additional radiograph images for the whole skeleton are required. Because of the increased bone density, this patient is prone to relapse after sequestrectomy. Therefore, the surgeon must minimize trauma with the least incision and exfoliation, and preoperative antibiotics.
Adult ; Anti-Bacterial Agents ; Bone Density ; Bone Diseases, Developmental ; Diagnosis ; Fistula ; Humans ; Osteomyelitis* ; Osteosclerosis ; Recurrence ; Sclerosis* ; Skeleton ; Skull ; Suppuration

Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Anemia ; Brain ; Child ; Congenital Abnormalities ; Female ; Humans ; Hydrocephalus* ; Infant ; Korea ; Magnetic Resonance Imaging ; Osteopetrosis* ; Osteoporosis ; Osteosclerosis ; Rare Diseases ; Rickets* ; Skull

Intramedullary osteosclerosis is an uncommon benign condition characterized by endosteal new bone formation in long tubular bone of lower extremity and treatment as well as etiology is unknown. Due to the rarity of this disease, and because there is no specific clinical finding except leg pain, it is difficult to differentiate this entity from other causes presenting similar symptoms. We report on a case of intramedullary osteosclerosis mistaken for radiculopathy from lumbar disease with a review of the literature.
Leg* ; Lower Extremity ; Osteogenesis ; Osteosclerosis* ; Radiculopathy

Freiberg's disease is a osteochondrosis of a metatarsal head that is recognized as primarily a disorder of the second metatarsal. It is seen more often in girls. Pain and limitation of motion of the affected joint is the predominant clincal feature. The radiographic appearance demonstrates from osteosclerosis in the early stage to osteolysis with collapse in the later stage. Conservative therapy may take the form of rest, a stiff shoe, and even a cast support to decrease the stress across the joint. Surgical intervention may also be of benefit. Surgery have been attempted either to modify the diseae process or to salvage the situation once the metatarsophalangeal joint develops degenerative changes. Metatarsophalangeal joint instability is common cause of forefoot pain that can develop in association with a traumatic episode and inflamatory tissue disorders as well as neighboring toe deformities. The second ray is by far the most frequently involved. The diagnosis can be made by clinical observation and physical examination including drawer test. Many surgical procedures have beem recommended when conservative treatment has failed. Procedures described range from soft tissue releases and tendon trasfer to the direct plantar plate repair combined with a Weil osteotomy.
Congenital Abnormalities ; Head ; Joints ; Metatarsal Bones ; Metatarsophalangeal Joint ; Metatarsus ; Osteochondritis ; Osteochondrosis ; Osteolysis ; Osteosclerosis ; Osteotomy ; Physical Examination ; Shoes ; Tendons ; Toes

Cleidocranial Dysplasia ; pathology ; Diagnosis, Differential ; Dwarfism ; Humans ; Maxillofacial Abnormalities ; Osteosclerosis ; pathology ; Pycnodysostosis ; diagnostic imaging ; etiology ; pathology ; therapy ; Radiography ; Tooth Abnormalities

Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis involving bones and multiple organs. Its clinical course can vary, from an asymptomatic state to a fatal disease, with renal involvement being a common cause of death. A 41-year-old man presented with a 10-month history of bilateral lower limb pain. Left perirenal soft-tissue infiltration had been found incidentally two years earlier. No progression of the lesion or deterioration of renal function was observed for a period of two years. At admission, plain radiography and magnetic resonance imaging of the patient's lower limbs showed patchy osteosclerosis. Biopsy of the tibia revealed histiocytic infiltration, which was found to be positive for CD68 and negative for CD1a. This report describes an unusual case of Erdheim-Chester disease involving a stationary course of disease with no specific treatment for a long period of time.
Adult ; Asymptomatic Diseases ; Biopsy ; Cause of Death ; Erdheim-Chester Disease ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Lower Extremity ; Magnetic Resonance Imaging ; Osteosclerosis ; Retroperitoneal Fibrosis ; Tibia