Abstract |
Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
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Authors | Daniel Gutierrez, Kevin D Cooper, Anna L Mitchell, Heather I Cohn |
Journal | Pediatric dermatology
(Pediatr Dermatol)
Vol. 32
Issue 5
Pg. e219-20
( 2015)
ISSN: 1525-1470 [Electronic] United States |
PMID | 26135202
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2015 Wiley Periodicals, Inc. |
Chemical References |
- DNA-Binding Proteins
- LEMD3 protein, human
- Membrane Proteins
- Nuclear Proteins
- RNA Splice Sites
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Topics |
- Abnormalities, Multiple
(diagnosis)
- Adolescent
- DNA-Binding Proteins
- Diagnosis, Differential
- Genetic Predisposition to Disease
- Humans
- Male
- Melorheostosis
(diagnosis, genetics)
- Membrane Proteins
(genetics)
- Mutation
- Nuclear Proteins
(genetics)
- Osteopoikilosis
(diagnosis, genetics)
- Prognosis
- RNA Splice Sites
(genetics)
- Rare Diseases
- Skin Diseases, Genetic
(diagnosis, genetics)
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