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Page 1
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D, Usluer E, Alp Ünkar Z, Şeker A, Adaletli İ, Güneş N, Madazlı R, Kadıoğlu P, Derbent M, Tüysüz B. Uludağ Alkaya D, et al. Calcif Tissue Int. 2025 Apr 8;116(1):59. doi: 10.1007/s00223-025-01366-w. Calcif Tissue Int. 2025. PMID: 40198394 Free PMC article.
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, sclerosteos …
Primary hypertrophic osteoarthropathy (PHOAR1/2) was found in 12 patients, followed by juvenile Paget's disease (JPD)-5 in five, craniometap …
Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.
Chapman T, Menashe SJ, Taragin BH. Chapman T, et al. Pediatr Radiol. 2020 May;50(5):618-627. doi: 10.1007/s00247-019-04590-3. Epub 2019 Dec 23. Pediatr Radiol. 2020. PMID: 31873763 Review.
Caffey disease, or infantile cortical hyperostosis, classically describes a self-limited inflammatory disorder that presents in the infant with fussiness, focal swelling and sometimes fever. ...In more recent years, another type of inflammatory bone disorder, chroni …
Caffey disease, or infantile cortical hyperostosis, classically describes a self-limited inflammatory disorder that presents i …
Monostotic femoral Caffey disease masquerading as Ewing sarcoma.
Kumari M, Prasad SN, Meena A, Tekkali KPK. Kumari M, et al. BMJ Case Rep. 2024 Sep 30;17(9):e261790. doi: 10.1136/bcr-2024-261790. BMJ Case Rep. 2024. PMID: 39349301
We describe a rare case of monostotic infantile cortical hyperostosis (Caffey disease) involving the left femur of an infant, who presented with recent onset left thigh swelling, following vaccination. ...Here, we describe the serial changes on the radiographs in …
We describe a rare case of monostotic infantile cortical hyperostosis (Caffey disease) involving the left femur of an infant, …
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Yap JYC, Lim JY, Bhatia A, Tan VKJ, Koo S, Nishimura G, Moosa S, Koh AL, Tan EC, Fong N, Jamuar SS. Yap JYC, et al. Am J Med Genet A. 2024 Feb;194(2):358-362. doi: 10.1002/ajmg.a.63420. Epub 2023 Oct 6. Am J Med Genet A. 2024. PMID: 37799085
We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and …
We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease …
Differential Diagnosis between Child Abuse and Infantile Cortical Hyperostosis: A Case Report and Literature Review.
Lee DY, Kim WJ, Kim B, Nho JH, Hong CH, Lee SM, Yoo ID, Lee C, Jung KJ. Lee DY, et al. Int J Environ Res Public Health. 2021 Nov 22;18(22):12269. doi: 10.3390/ijerph182212269. Int J Environ Res Public Health. 2021. PMID: 34832024 Free PMC article. Review.
There was no specific history of injury. Caffey disease was initially considered as the diagnosis because the patient displayed fever and hyperostosis of multiple bones with elevated erythrocyte sedimentation rates and C-reactive protein and alkaline phosphatase lev …
There was no specific history of injury. Caffey disease was initially considered as the diagnosis because the patient displaye …
Caffey disease in an infant.
Tandon A, Raza F, Tandon R, Alam A. Tandon A, et al. BMJ Case Rep. 2024 Nov 19;17(11):e261909. doi: 10.1136/bcr-2024-261909. BMJ Case Rep. 2024. PMID: 39566920
After ruling out conditions such as chronic osteomyelitis, Ewing's sarcoma, rhabdomyosarcoma, trauma or child abuse, chronic recurrent multifocal osteomyelitis and hypervitaminosis A, the findings pointed to Caffey disease. Although infantile cortical hyperostosis, …
After ruling out conditions such as chronic osteomyelitis, Ewing's sarcoma, rhabdomyosarcoma, trauma or child abuse, chronic recurrent multi …
Unravelling the challenges in diagnosing Caffey disease.
Dwajan A, Selvamani J, Roy M, Verma H. Dwajan A, et al. BMJ Case Rep. 2025 Jun 4;18(6):e265924. doi: 10.1136/bcr-2025-265924. BMJ Case Rep. 2025. PMID: 40473314
Caffey disease, also known as Infantile Cortical Hyperostosis, is a rare yet significant self-limiting disorder that primarily affects infants. ...Radiographs showed cortical thickening, and biopsy confirmed Caffey disease (Infantile Cortical Hyperosto …
Caffey disease, also known as Infantile Cortical Hyperostosis, is a rare yet significant self-limiting disorder that primarily …
Imaging evaluation of rheumatologic musculoskeletal disorders in children.
Handa A, Restrepo SB, Restrepo R, Williams-Weekes T, Lee EY. Handa A, et al. Skeletal Radiol. 2025 Nov;54(11):2357-2371. doi: 10.1007/s00256-025-04910-9. Epub 2025 Mar 29. Skeletal Radiol. 2025. PMID: 40156723 Review.
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....
Additionally, characteristic imaging features of major pediatric inflammatory conditions are reviewed, including juvenile idiopathic arthrit …
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
Merdler-Rabinowicz R, Grinberg A, Jacobson JM, Somekh I, Klein C, Lev A, Ihsan S, Habib A, Somech R, Simon AJ. Merdler-Rabinowicz R, et al. Pediatr Res. 2019 Nov;86(5):603-607. doi: 10.1038/s41390-019-0499-0. Epub 2019 Jul 9. Pediatr Res. 2019. PMID: 31288248 Free PMC article.
BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. ...
BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by s …
Caffey disease is associated with distinct arginine to cysteine substitutions in the proalpha1(I) chain of type I procollagen.
Dhooge T, Syx D, Hermanns-Lê T, Hausser I, Mortier G, Zonana J, Symoens S, Byers PH, Malfait F. Dhooge T, et al. Genet Med. 2021 Dec;23(12):2378-2385. doi: 10.1038/s41436-021-01274-y. Epub 2021 Jul 16. Genet Med. 2021. PMID: 34272483 Free article.
PURPOSE: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. ...Furthermore, it confirms allelic heterogeneity in Caffey …
PURPOSE: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation …
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