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Updated: Aug 11, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[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
Abstract:
Buschke-Ollendorff syndrome is an autosomal dominant disorder whose clinical course includes elastic nevi and osteopoikilosis. Histologically, most cases present with a normal amount of collagen in the skin lesions and an increase in elastic fibers, although abortive forms with skin involvement have been described, with a decrease in elastic fibers and an absence of bone alterations. We describe the case of a 41-year-old woman with Buschke-Ollendorff syndrome criteria, and that of her 2-year-old daughter who might present an abortive form of Buschke-Ollendorff.
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