Familial mutation in Caffey disease with reduced penetrance: A case report

Abstract

Caffey disease is a rare condition of early infancy, characterized by soft tissue swelling, bone lesions, and hyperirritability. Its typical radiological finding is periosteal new bone formation. It can be sporadic or inherited in an autosomal dominant manner. There is no specific treatment. In symptomatic cases, non-steroidal anti-inflammatory drugs such as ibuprofen, indomethacin, or naproxen can be used. This is a report of an infant who presented with restlessness, irritability, and swelling over his shins, diagnosed as Caffey disease. Although there was no family history, the genetic analysis revealed heterozygous missense mutation (c.3040C > T) in type-I-collagen-alpha-1-chain gene in the patient in addition to his mother, grandmother, aunt, and cousin. After indomethacin therapy, the complaints of the patient were completely resolved and his bone lesions were significantly improved. This case report is a familial form of Caffey disease from Turkey, with proven heterozygous mutation in the patient and the family members.

Unusual findings on infantile cortical hyperostosis: A case report

“…The blowing feature is typical for a benign process and this characteristic could indicate the presence of a cystic or benign neoplastic lesion. The mandibular angle is a common site to Caffey's disease but is an unusual area for odontogenic pathological processes, so this differential diagnosis was not presumed. It is important to note the absence of other signs and symptoms compatible with malignant behavior and the surgical exploration seemed unnecessary.…”

“…Mandible is commonly involved site beyond the long bones, clavicles and ribs, with no predilection by ethnic origin or gender . Some authors describe cases affecting the mandible angle, bilaterally . The fever is are common sign and may be due to high prostaglandin levels or due to excessive metabolic activity in the bones .…”

“…1,13 Some authors describe cases affecting the mandible angle, bilaterally. 7,[14][15][16] The fever is are common sign 4 and may be due to high prostaglandin levels or due to excessive metabolic activity in the bones. 17 The laboratory tests do not help in diagnosis.…”

Caffey-Silverman syndrome – a case report of a two-monthold boy with a positive family history

“…It is a rare infant disease and occurs in both sexes [4,5]. Available literature does not provide accurate prevalence of the disease.…”

“…The symptoms usually occur within first six months of a child's life and resolve until the second year of life [7]. A characteristic symptom of the disease is painful swelling of soft tissues, limited mobility of limbs, high temperature, hyperactivity, irritability, and typical bone lesions seen in X-ray tests [4,[6][7][8]. The swelling may include the muscles located below [9].…”