Caffey Disease in Infancy: A diagnostic dilemma for primary care physicians

Abstract

Caffey disease is a rare and self-limiting condition characterised by cortical hyperostosis with inflammation of adjacent fascia and muscles. It usually presents in infancy and clinical features include hyperirritability, acute inflammation with swelling of overlying soft tissues and subperiosteal new bone formation. Awareness of the existence of this rare condition and its typical clinical and radiological profile will avoid unnecessary investigations and treatment and help the physician to explain its good prognosis to parents of affected children. We report a three-month-old male infant who presented to the Outpatient Paediatrics Department at Moti Lal Nehru Medical College, Allahabad, India, in 2018 with a right shoulder mass, decreased upper limb movements and irritability. The patient was treated with ibuprofen and paracetamol. Irritability and limitation of movement improved over a treatment period of two weeks.Keywords: Caffey Disease; Infant; Prostaglandin E1; Thrombocytosis; Case Report; India.

Caffey’s disease in disguise: a child abuse mimic

“…It presents with swelling of surrounding soft tissues and may be accompanied by fever and irritability. The disease manifests in infancy typically, the first 6 months of life 4. It is frequently sporadic; however, there have been isolated cases of autosomal dominant or recessive forms 5.…”

Caffey Disease: A Diagnostic Dilemma

“…3 It is a rare, self-limiting disorder which is characterised by an acute inflammation of the periosteum and the covering soft tissues. 1,4 The characteristic triad of Caffey disease consists of systemic symptoms (irritability and fever), soft tissue swelling and underlying cortical bone thickening. 2 The exact aetiology of this disorder is still unclear however it has been reported that the autosomal dominant form of Caffey disease is caused by recurrent argininecysteine (R836C) substitution in the α1 chain of type I collagen.…”

“…4 Caffey disease is a disorder of early infancy with its onset within first six months of life which usually resolves by two years of age. 1 The most frequently involved site is mandible (70-90%) followed by clavicle, ribs, scapula and long bones. 4 Laboratory f i n d i n g s i n c l u d e e l e v a t e d E r y t h r o c y t e Sedimentation Rate (ESR), high level of C-R e a c t i v e p r o t e i n s ( C R P ) , h i g h a l k a l i n e phosphatase, thrombocytosis, anaemia and raised immunoglobulin levels.…”

“…5 As there is no specific laboratory test for its diagnosis, radiography is the most valuable tool. 1 Radiography reveals layers of periosteal new bone formation with cortical thickening beneath the regions of soft tissue swelling. 6 However, there is a significant possibility of its diagnosis being delayed as it mimics various o t h e r c o n d i t i o n s l i k e o s t e o m y e l i t i s , hypervitaminosis A, bone tumour, scurvy, child abuse and prolonged PGE1 infusion.…”

“…Clinically, it is characterised by sudden onset of irritability, fever, decreased joint mobility and soft tissue swelling. 1 Even though it has a good prognosis, there will be a diagnostic dilemma as it mimics a wide range of diseases like osteomyelitis, hypervitaminosis, bone tumours, scurvy and child abuse. 2 The aim here is to emphasise the possibility of Caffey disease while dealing with the case of infantile bony swellings.…”