Caffey disease, also known as Infantile Cortical Hyperostosis, is a rare yet significant self-limiting disorder that primarily affects infants. The condition is characterised by acute inflammation of the periosteum, cortical hyperostosis, and soft tissue swelling, often accompanied by systemic manifestations such as fever and irritability. The case describes a male infant with progressive left thigh swelling appearing 10 days post-immunisation, with no systemic symptoms. Examination revealed a bony-hard swelling with elevated inflammatory markers and alkaline phosphatase. Radiographs showed cortical thickening, and biopsy confirmed Caffey disease (Infantile Cortical Hyperostosis). Differential diagnoses like osteomyelitis and malignancy were ruled out. Conservative management with symptomatic relief led to complete resolution within 3 months, highlighting the importance of early diagnosis to avoid unnecessary interventions.

Caffey disease, also known as infantile cortical hyperostosis, is a rare skeletal disorder characterized by self-limited cortical bone hyperostosis and soft tissue swelling, typically presenting within the first 6 months of life. We report a rare case of prenatal Caffey disease, with fetal MRI imaging and postnatal radiographs demonstrating the hallmark findings of severe cortical hyperostosis. A current review of literature details the varied sporadic and familial origins of infantile cortical hyperostosis revealing a genetic link with a mutation of the COL1A1 gene coding for type 1 collagen. Differential diagnostic considerations are also reviewed for potentially similar patterns of bone diseases encountered in the neonatal period. This case presentation aims to review the clinical, genetic, and imaging implications of this unique disease to aid radiologists and clinicians towards accurate diagnosis, prognosis, and management. While supportive care remains the mainstay of treatment of Caffey disease, the prognosis is generally favorable, with spontaneous resolution being the most common outcome.

Jaw osteomyelitis is a severe inflammatory condition affecting the maxilla or mandible, posing diagnostic and therapeutic challenges. An early and accurate diagnosis is crucial to initiating appropriate treatment and preventing potential complications. Radiological imaging plays a pivotal role in diagnosing and evaluating jaw osteomyelitis, providing valuable insights into the extent of the disease and aiding clinicians in making informed decisions. One of the most important aspects of imaging is to differentiate them from the noninfectious mimics, which can closely mimic their imaging appearance. This article aims to present a comprehensive overview of imaging in jaw osteomyelitis, focusing on the critical clinical and imaging markers that distinguish it from its noninfectious imitators.

Osteosclerotic bone diseases include more than 30 rare diseases characterized by excessive bone formation. The aim of this study is to compare the molecular pathogenesis and prognostic features of 12 different osteosclerotic diseases. Thirty-four patients from 23 families were included, 25 of whom were followed for a period of one to 22 years. Exome sequencing was performed in 20 families. Primary hypertrophic osteoarthropathy (PHOAR1/2) was found in 12 patients, followed by juvenile Paget's disease (JPD)-5 in five, craniometaphyseal dysplasia (CMD) and Camurati-Engelmann disease (CED) in four, Ghosal hematodiaphyseal dysplasia (GHDD) in three patients, sclerosteosis-1 in two patients, and ultra-rare diseases including trichothiodystrophy-1, prenatal Caffey disease, melorheosteosis, and Lenz-Majewski hyperostotic dwarfism in one patient each. Patients with CMD and sclerosteosis-1 had severe cranial sclerosis leading to facial dysmorphism. CMD was characterized by metaphyseal widening, radiolucency, and diaphyseal sclerosis of the long bones in early childhood and later developed Erlenmeyer flask deformity sparing the vertebrae and pelvis, whereas sclerosteosis-1 manifested as generalized sclerosis. CED and GHDD share bone pain, difficulty in walking, and diaphyseal sclerosis, with some patients also having bone marrow involvement. Interestingly, patients with CED and JPD-5 showed osteopenia in early childhood, followed by the development of osteosclerosis in late childhood. Clinical and radiologic findings improved over time in PHOAR1 patients, whereas they progressed in JPD-5 and trichothiodystrophy-1 patients. Intra- and interfamilial clinical differences were observed in CMD, CED, JPD-5, and GHDD. The knowledge gained about the natural history of osteosclerotic diseases will make an important contribution to their diagnosis and management.

Imaging plays a vital role in the diagnosis and management of pediatric inflammatory musculoskeletal disorders. Currently, various imaging modalities are utilized in a stepwise approach, each providing complementary information. This article explores the advantages and limitations of currently available imaging techniques, including plain radiography, ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI), in the assessment of pediatric inflammatory musculoskeletal disorders. Additionally, characteristic imaging features of major pediatric inflammatory conditions are reviewed, including juvenile idiopathic arthritis, chronic nonbacterial osteomyelitis, Caffey disease, and juvenile idiopathic inflammatory myopathies.