Abstract
Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
MeSH terms
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Adolescent
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Biopsy
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Child, Preschool
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Diagnosis, Differential
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Elastic Tissue / pathology*
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Female
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Humans
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Incidental Findings
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Male
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Osteopoikilosis / diagnosis*
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Osteopoikilosis / diagnostic imaging
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Osteopoikilosis / genetics*
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Osteopoikilosis / pathology
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Pedigree
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Prognosis
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Radiography
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Siblings
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Skin Diseases, Genetic / diagnosis*
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Skin Diseases, Genetic / diagnostic imaging
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Skin Diseases, Genetic / genetics*
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Skin Diseases, Genetic / pathology
Supplementary concepts
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Buschke-Ollendorff syndrome