• Sindrome di Buschke-Ollendorff: clinica e genetica
  • Savoia, Francesco <1976>

Subject

  • MED/35 Malattie cutanee e veneree

Description

  • Buschke Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis, with high penetrance and variable expressivity, characterized by the association of connective tissue naevi and osteopoikilosis. Both cutaneous and osseous manifestations are usually asymptomatic. The disease is caused by a loss-of-function mutation in the gene LEMD3, that is located on chromosome 12q13. Differential diagnosis mainly includes pseudoxantoma elasticum, morphea, lipoid proteinosis, papular elastorrhexis, juvenile elastoma, papular mucinosis. The 2 cases of BOS here reported are an example of segmental type 2 autosomal dominant genodermatosis, that is due to the loss of heterozygosity occurring at an early developmental stage in a heterozygous patient, causing a segmental homozygosity. Such patients usually have pronounced segmental lesions in the first years of life and later develop disseminated symmetrical lesions.

Date

  • 2011-04-07

Type

  • Doctoral Thesis
  • PeerReviewed

Format

  • application/pdf

Identifier

urn:nbn:it:unibo-2428

Savoia, Francesco (2011) Sindrome di Buschke-Ollendorff: clinica e genetica, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze dermatologiche e ricostruttive maxillo-facciali e plastiche , 22 Ciclo. DOI 10.6092/unibo/amsdottorato/3388.

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