Familial mutation in Caffey disease with reduced penetrance: A case report
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....
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2016-12-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/1174 |
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| author | Özmert M A Özdemir Hazal Tancer-Elçi Aziz Polat İnci Güçtürk Emre Tepeli Selcan Zeybek Akif Ayaz |
| author_facet | Özmert M A Özdemir Hazal Tancer-Elçi Aziz Polat İnci Güçtürk Emre Tepeli Selcan Zeybek Akif Ayaz |
| author_sort | Özmert M A Özdemir |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-28d49c4f551f4a35b8346c3f0cb27fe5 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2016-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-28d49c4f551f4a35b8346c3f0cb27fe52025-08-20T02:01:47ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212016-12-0158610.24953/turkjped.2016.06.011Familial mutation in Caffey disease with reduced penetrance: A case reportÖzmert M A Özdemir0Hazal Tancer-Elçi1Aziz Polat2İnci Güçtürk3Emre Tepeli4Selcan Zeybek5Akif Ayaz6Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey.Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey. 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. https://turkjpediatr.org/article/view/1174COL1A1Caffey diseaseinfantmutation |
| spellingShingle | Özmert M A Özdemir Hazal Tancer-Elçi Aziz Polat İnci Güçtürk Emre Tepeli Selcan Zeybek Akif Ayaz Familial mutation in Caffey disease with reduced penetrance: A case report The Turkish Journal of Pediatrics COL1A1 Caffey disease infant mutation |
| title | Familial mutation in Caffey disease with reduced penetrance: A case report |
| title_full | Familial mutation in Caffey disease with reduced penetrance: A case report |
| title_fullStr | Familial mutation in Caffey disease with reduced penetrance: A case report |
| title_full_unstemmed | Familial mutation in Caffey disease with reduced penetrance: A case report |
| title_short | Familial mutation in Caffey disease with reduced penetrance: A case report |
| title_sort | familial mutation in caffey disease with reduced penetrance a case report |
| topic | COL1A1 Caffey disease infant mutation |
| url | https://turkjpediatr.org/article/view/1174 |
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