Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years.

Pedro Carlos M Sarmento Pinheiro,Ierecê Lins Aymore,Paulo Miguel Hemais,Armando Rocha Amoedo

doi:10.1155/2016/2073854

Pedro Carlos M Sarmento Pinheiro, Ierecê Lins Aymore + Show 2 more

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https://doi.org/10.1155/2016/2073854

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Abstract

Purpose. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Methods. Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. Bone puncture biopsy of the tibia for histopathological observation and diagnosis conclusions was performed. Results. The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation surrounding several bones. Results in blood count were as follows: discrete anemia, moderate leukocytosis, and elevated sedimentation rate. Histological pattern of tissue removed from tibia showed lamellar cortical bones and hyperplasia. Biopsy studies disclosed no evidence of neoplasia as well as of bacterial infection. Comments. Clinical manifestations in a neonatal patient displaying infantile cortical hyperostosis have gradually decreased. Radiograph findings have demonstrated complete recovery of bones manifested by the disease. The pathologic findings are in accordance with previous microscopic examination summarized by the literature. Total patient cure, without sequels, could be demonstrated.

Highlights

This report is a description of a patient who presented infantile cortical hyperostosis (ICH), called Caffey’s disease
Bacterial infection, allergy, genetic transmission, and collagen disease must be among the possibilities for the cause of this disease [2, 7]
We would recommend a genetic screening to confirm the diagnosis of Caffey disease and to provide genetic counseling for future generations

Summary

Introduction

This report is a description of a patient who presented infantile cortical hyperostosis (ICH), called Caffey’s disease. The condition is a self-limited entity of undetermined cause [1]. Authors have hypothesized severe immunologic defects and a viral cause as possible predisposing factors [2]. The disease affects males and females in the same proportion [1]. After birth clinical aspects of the disease can be observed during the neonatal phase: tender soft-tissue swellings, hyperirritability, and fever. Roentgen finding manifestations have shown subperiosteal new bone formation, involving diaphysis of long bones, and thickened mandible. Microscopic pathology for histological pattern study was performed. These aspects associated with longer duration of the disease definitely represent a rare syndrome described by John Caffey and William A. Much is still to be understood about this intriguing disease [1]

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