Caffey's disease is a cortical hyperostosis, which presents during infancy. Etiology remains unclear. Familial occurrence has been documented in the literature. Reported here is infantile cortical hyperostosis that occurred in a father and his two daughters. The familial occurrence would suggest a genetic basis for Caffey's disease; however, it remains consistent with infection by an agent with a long latency period as has been strongly suggested in Paget's disease.
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South Med J
December 2024
Department of Dermatology, Mayo Clinic, Jacksonville, Florida.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive condition characterized by fibroblast growth factor 23 signaling pathway dysregulation, hyperphosphatemia and ectopic calcifications (which manifest as joint motion limitations), inflammatory bony pain, and disability. Given the rarity and multiorgan involvement of HFTC, a multidisciplinary approach including Dermatology, Ophthalmology, Dentistry, Nephrology, Endocrinology, Rheumatology, and Genetics is necessary for diagnosis and treatment. We present a multidisciplinary diagnostic and treatment approach for a patient with HFTC due to a gene mutation with unique imaging highlighting the extent of calcinosis seen in HFTC.
View Article and Find Full Text PDFBMJ Case Rep
November 2024
Paediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
A previously healthy female infant was brought to the paediatrics outpatient department by her mother reporting increased irritability and swelling behind her left shoulder, accompanied by restricted movement in her left arm. The irritability had been present for the past 5 months, with swelling also noticed at that time, gradually increasing in size. On examination, a large, firm, immobile mass was detected on the left scapular region.
View Article and Find Full Text PDFF1000Res
November 2024
Neonatal Intensive Care Unit, King Fahad Medical City, Riyadh, Saudi Arabia.
BMJ Case Rep
October 2024
Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
BMJ Case Rep
September 2024
Department of Radiodiagnosis, All India Institute of Medical Sciences - Patna, Patna, Bihar, India.
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