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[Family Buschke-Ollendorff syndrome]
Aránzazu Vergara1, María J Isarría, Prado Sánchez-Caminero
1Servicio de Dermatología, Hospital 12 de Octubre, Avda. de Cordoba s/n, 28041 Madrid, Spain. aranvergara@yahoo.es
Actas Dermo-Sifiliograficas
|February 16, 2006
Summary
Buschke-Ollendorff syndrome involves elastic nevi and osteopoikilosis. This report details a mother meeting criteria and her daughter potentially exhibiting an abortive form with skin alterations.
Area of Science:
- Dermatology
- Genetics
- Radiology
Background:
- Buschke-Ollendorff syndrome (BOS) is an inherited condition.
- It typically presents with characteristic skin findings (elastic nevi) and bone abnormalities (osteopoikilosis).
- Histological examination reveals increased elastic fibers in skin lesions.
Observation:
- A 41-year-old woman presented with classic criteria for Buschke-Ollendorff syndrome.
- Her 2-year-old daughter exhibited potential signs suggestive of an abortive form of the syndrome.
- The daughter's presentation included skin involvement but lacked bone alterations.
Findings:
- The mother exhibited typical features of Buschke-Ollendorff syndrome.
- The daughter's condition may represent an abortive phenotype of BOS.
- Abortive forms can present with decreased elastic fibers and absent bone changes.
Implications:
- This case highlights the phenotypic variability within Buschke-Ollendorff syndrome.
- Recognizing abortive forms is crucial for accurate diagnosis and genetic counseling.
- Further research may elucidate the genetic underpinnings of BOS variants.
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