Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Benjamin Korman; Jun Wei; Anne Laumann; Polly Ferguson; John Varga

doi:10.1155/2016/2483041

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Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

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Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Benjamin Korman, Jun Wei, Anne Laumann, Polly Ferguson and John Varga

Case reports in dermatological medicine, Vol.2016, 2483041

2016

DOI: 10.1155/2016/2483041

PMCID: PMC4921644

PMID: 27382493

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Abstract

Introduction . Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report . A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance . We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

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Title: Subtitle: Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant
Creators: Benjamin Korman - Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Jun Wei - Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Anne Laumann - Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Polly Ferguson - Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA
John Varga - Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Resource Type: Journal article
Publication Details: Case reports in dermatological medicine, Vol.2016, 2483041
DOI: 10.1155/2016/2483041
PMID: 27382493
PMCID: PMC4921644
NLM abbreviation: Case Rep Dermatol Med
ISSN: 2090-6463
eISSN: 2090-6471
Publisher: Hindawi Publishing Corporation
Grant note: DOI: 10.13039/100000002, name: National Institutes of Health, award: K12HD055884, R043309, RO42205, R01AR059703
Language: English
Date published: 2016
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
Record Identifier: 9984065840502771

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