Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/495164 |
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| author | Nicholas Beckmann |
| author_facet | Nicholas Beckmann |
| author_sort | Nicholas Beckmann |
| collection | DOAJ |
| description | Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. The patient was also found to have an asymptomatic stress fracture of the lower extremity, another finding of Rothmund-Thomson syndrome rarely reported in the literature. A thorough review of the literature and comprehensive presentation of Rothmund-Thomson syndrome is provided in conjunction with our case. |
| format | Article |
| id | doaj-art-009dfc2ca1374819b8863ca4fd629674 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-009dfc2ca1374819b8863ca4fd6296742025-02-03T01:25:53ZengWileyCase Reports in Medicine1687-96271687-96352015-01-01201510.1155/2015/495164495164Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson SyndromeNicholas Beckmann0University of Texas Health Science Center, 6431 Fannin Street, MSB 2.130B, Houston, TX 77030, USARothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. The patient was also found to have an asymptomatic stress fracture of the lower extremity, another finding of Rothmund-Thomson syndrome rarely reported in the literature. A thorough review of the literature and comprehensive presentation of Rothmund-Thomson syndrome is provided in conjunction with our case.http://dx.doi.org/10.1155/2015/495164 |
| spellingShingle | Nicholas Beckmann Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome Case Reports in Medicine |
| title | Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome |
| title_full | Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome |
| title_fullStr | Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome |
| title_full_unstemmed | Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome |
| title_short | Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome |
| title_sort | multiple low energy long bone fractures in the setting of rothmund thomson syndrome |
| url | http://dx.doi.org/10.1155/2015/495164 |
| work_keys_str_mv | AT nicholasbeckmann multiplelowenergylongbonefracturesinthesettingofrothmundthomsonsyndrome |