Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?

Alessandra Condorelli; Nicolo Musso; Laura Scuderi; Daniele F Condorelli; Vincenza Barresi; Rocco De Pasquale

doi:10.1111/pde.13287

Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?

Pediatr Dermatol. 2017 Nov;34(6):e345-e346. doi: 10.1111/pde.13287. Epub 2017 Oct 10.

Authors

Alessandra Condorelli¹, Nicolo Musso², Laura Scuderi¹, Daniele F Condorelli², Vincenza Barresi², Rocco De Pasquale¹

Affiliations

¹ Department of Dermatology, Vittorio Emanuele-Policlinic Hospital, Catania, Italy.
² Department of Biomedical and Biotechnological Sciences, Section of Medical Biochemistry, University of Catania, Catania, Italy.

PMID: 29023873
DOI: 10.1111/pde.13287

Abstract

We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother. Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome. Analysis of all exons and exon-intron junctions of LEMD3 did not reveal any germline mutations.

Publication types

Case Reports

MeSH terms

Child
DNA-Binding Proteins
Elastic Tissue / pathology
Female
Germ-Line Mutation
Humans
Membrane Proteins / genetics*
Nuclear Proteins / genetics*
Osteopoikilosis / genetics*
Sequence Analysis, DNA
Skin / pathology*
Skin Diseases, Genetic / genetics*

Substances

DNA-Binding Proteins
LEMD3 protein, human
Membrane Proteins
Nuclear Proteins

Supplementary concepts

Buschke-Ollendorff syndrome