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

Humans ; Hyperostosis, Cortical, Congenital ; diagnosis ; Infant ; Male

Infantile cortical hyperostosis (Caffey's disease) is considered to be a benign self- limiting disease of uncertain etiology that appears in early infancy. A 16 month old girl, who had an infantile cortical hyperostosis after her birth, was admitted because of irritability and a painful swelling of her leg and a cortical thickening in her left tibia. We diagnosed this as being a recurrence of infantile cortical hyperostosis according to clincal and radiologic findings. Recurrence of cortical thickening in patient with a history of Caffey's disease may be suspected in the infantile cortical hyperostosis disorder.
Female ; Humans ; Hyperostosis, Cortical, Congenital* ; Infant ; Leg ; Parturition ; Recurrence* ; Tibia

Caffey's disease(infantile cortical hyperostosis) is an uncommon benign and self limited disorder of unknown etiology, affecting the skeleton and its contiguous fasciae and muscles. Its occurrence in isolated cases or in multiple members in families suggests the existence of two different forms, namely a sporadic form and a familial form. The tibia is the predominant bone known to be affected in the familial form, while the mandible is mostly affected in the sporadic form. This benign and self-limited disorder has rarely late recurrence or persistence of symptoms with deformity. The patient in this case had immediate and complete resolution of her symptoms while receiving acetaminophen with no recurrent bone formation during treatment with antiinflammatory drugs. We describe sporadic, nonfamilial Caffey's disease, affecting both radii and tibiae, but not involving the mandibular in a 4-month-old female infant.
Acetaminophen ; Congenital Abnormalities ; Fascia ; Female ; Humans ; Hyperostosis, Cortical, Congenital ; Infant ; Mandible ; Muscles ; Osteogenesis ; Recurrence ; Skeleton ; Tibia

Behcet? disease is a recurring illness characterized by the triple symptom complex of aphthous stomatitis, genital ulceration, and uveitis. The disease is multisystemic disorder with involvement of skin, gastrointestinal tract, blood vessels, central nervous system, joints, and epididymis. Vascular involvement of Behcet? disease affects both arteries and veins and blood vessels of all sizes. Periosteal new bone formation is one feature of hypertrophic osteoarthropathy. Other features are clubbing and arthritis. Periosteal new bone formation on the bones of the lower extremities without other features of hypertrophic osteoarthropathy has been reported in patients with varicose veins, vitamin A intoxication, infantile cortical hyperostosis, tuberous sclerosis, congenital syphilis and chronic renal failure with hyperparathyroidism, and chronic venous insufficiency. However, periosteal new bone formation has not, to our knowledge, been described in patients with Behcet? disease yet although similar findings are occasionally noted in polyarteritis nodosa. We report a case of Behcet? disease complicated by leg swelling with periosteal new bone formation of right lower leg.
Arteries ; Arthritis ; Behcet Syndrome ; Blood Vessels ; Central Nervous System ; Epididymis ; Gastrointestinal Tract ; Humans ; Hyperostosis, Cortical, Congenital ; Hyperparathyroidism ; Joints ; Kidney Failure, Chronic ; Leg ; Lower Extremity ; Male ; Osteogenesis* ; Polyarteritis Nodosa ; Skin ; Stomatitis, Aphthous ; Syphilis, Congenital ; Tuberous Sclerosis ; Ulcer ; Uveitis ; Varicose Veins ; Veins ; Venous Insufficiency ; Vitamin A

No abstract available.
Hyperostosis, Cortical, Congenital*

No abstract available.
Hyperostosis, Cortical, Congenital*

No abstract available.
Hyperostosis, Cortical, Congenital*

Infantile cortical hyperostosis occurs in the first few months of life, and is characterized by irritability, fever, soft tissue swelling and radiological evidence of a periosteal reaction, particularly of the mandible. It's cause is unknown. The disease has been reported over 130 cases worldwidely, with only 2 cases in Korea sofar. Recently we experienced a case of infantile cortical hyperostosis. The patient was 2-month-old female who complained of fever, irritability, tender swellinb of left forearm and both lower legs. The diagnosis was established by radiological findings that showed marked periosteal new bone formation on the mandible, left radius and ulnar, and both tibiae. The brief review of literature was made.
Diagnosis ; Female ; Fever ; Forearm ; Humans ; Hyperostosis, Cortical, Congenital* ; Infant ; Korea ; Leg ; Mandible ; Osteogenesis ; Radius ; Tibia

The infantile cortical hyperostosis is relatively rare unknown cause disease. After the first report of a case of this was that of caffey in 1945, this disease is increasing in frequency. This disease characterized by subperiosteal new bone formation on various bone, leukocytosis, increased Erythrocyte Seidmentation Rate, fever. We experienced two cases of this and reported them in this paper with a brief review of tbe literature.
Erythrocytes ; Fever ; Hyperostosis, Cortical, Congenital ; Leukocytosis ; Osteogenesis