Caffey's disease is also known as Infantile Cortical Hyperostosis (ICH), it was first described and named in 1945 by Caffey and Silverman¹. it is a rare autosomal dominant disorder characterized by subperiosteally new bone formation. Radiological imaging plays a crucial role in confirming the diagnosis.

Case Discussion

Male child born to an elderly gravida who conceived by invitro fertilization as twin pregnancy and was delivered by cesarean section, presented at the age of 5 months with swelling over the left side of face, neck, left shoulder and left arm with restricted movements at shoulder joint and left aím. On physical examination infant was afebrile and irritable, hard soft-tissue mass was present in left arm. The blood chemistries, including erythrocyte sedimentation rate and phosphatase levels, were normal. Patient was sent to radiology department for x-rays. Radiographs of left shoulder with humerus and mandible were obtained and revealed hyperostosis and cortical 

Figure 1: Radiographs of Mandible, Left Humerus, Face, Left Shoulder with Left Humerus Showing Expansion and Cortical Thickening of Mandible, Left Clavicle and Diaphysis of Humerus

Figure 2: MRI Images Showing Coronal STIR , Sagittal and Axial T2 PDFS Sections at the Level of Shoulder Joint Showing Expansion Cortical Thickening Involving Clavicle and Left Humerus(Shown by Blue Arrowheads) with Axillary Lymphadenopathy( Shown By Blue Arrow)

thickening in the mandible, left clavicle and left humerus. MRI left humerus with shoulder joint was performed and showed altered signal intensity in the form of T2/STIR hyperintensity with cortical thickening and solid thick periosteal reaction involving entire length of clavicle and left humerus predominantly involving diaphysis with sparing of metaphysis and epiphysis with T2/STIR hyperintensity in surrounding muscles. Patient was started on corticosteroid therapy and improved symptomatically in one month (Figure 1-2).

Infantile cortical hyperostosis affects 3 in every 1,000 infants less than 6 months of age in the United States, with no predilection by ethnic origin or gender, both familial and sporadic forms are associated with adenopathy[1-3]. it is a rare disease and to avoid unnecessary procedures, correct diagnosis is essential. Most commonly effected bones are mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. it is usually asymptomatic and mostly present as triad of soft tissue swelling, bone lesions, and irritability with restlessness. it may present as difficulty in feeding and eating, leading to failure to thrive, there may be severe pain leading to pseudo paralysis [4]. Radiological presentation of Caffeys disease is periosteal new  bone formation and cortical thickening with surrounding soft tissue swelling. Diaphysis of tubular bones is involved causing spindle shape of bones, sparing bone ends and metaphysis. Massive cortical thickening and widening of bones and enlargement, marginal hyperostosis, and sclerosis of flat bones may occur however there is no epiphyseal involvement hence no growth disturbance [5-7]. Infantile cortical hyperostosis is a self-limited condition and resolves on its own without treatment, usually within 6 to 9 months. Gensuíe et al [8] showed that infantile cortical hyperostosis occurs due to collagen I mutation, As collagen I most important component of dentine, teeth alterations are also seen.

Caffeys disease also known as Infantile cortical hyperostosis is a rare autosomal dominant self-limiting disease. Most common clinical presentation is triad of soft tissue swelling, bone lesions, and irritability and radiological presentation as periosteal new bone formation and cortical thickening with surrounding soft tissue swelling.

1. Caffey, J. “Infantile cortical hyperostoses: preliminary report on a new syndrome.” American Journal of Roentgenology, vol. 54, 1945, pp. 1–6.

2. Mabiala-Babela, J.R. and Senga, P. “First Congolese case report of Caffey disease.” Archives de Pédiatrie, vol. 12, no. 9, 2005, pp. 1402–1406.

3. Benomar, S. and Najdi, T. “La maladie de Caffey.” Archives de Pédiatrie, vol. 5, no. 1, 1998, pp. 31–35.

4. Shandilya, R. et al. “Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature—where are we after 70 years?” Journal of Oral and Maxillofacial Surgery, vol. 71, no. 7, 2013, pp. 1195–1201.

5. Wilner, D. “Radiology of bone tumors and allied disorders.” Book, year not provided.

6. Greenfield, G.B. “Radiology of bone disease.” Book, year not provided.

7. Grainger, R.G. et al. “Grainger & Allison’s diagnostic radiology: a textbook of medical imaging.” Book, 1997.

8. Gensure, R.C. et al. “A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.” The Journal of Clinical Investigation, vol. 115, no. 5, 2005, pp. 1250–1257.