Scleroderma Associated with Osteopoikilosis

“…First described in 1928, BOS is an uncommon familial syndrome characterized by osteopoikilosis associated with skin manifestations [ 32 , 33 ]. In children with BOS, osteopoikilosis has been reported to be accompanied by fibrotic skin lesions, including linear scleroderma, part of the morphea spectrum disorders [ 5 , 6 , 34 – 36 ]. We are unaware of a previous description of late-onset generalized morphea associated with osteopoikilosis.…”

Section: Literature Survey and Discussionmentioning

confidence: 99%

“…However, melorheostosis frequently occurs in the absence of LEMD3 mutations [ 8 ], and thus far none of the LEMD3 mutation-proven cases of melorheostosis ( Table 1 ) have coincided with linear scleroderma. One report of osteopoikilosis associated with scleroderma described a patient with sclerodactyly and Raynaud phenomenon, suggesting coexistent systemic sclerosis and isolated osteopoikilosis rather than syndromic BOS [ 6 ].…”

Section: Literature Survey and Discussionmentioning

confidence: 99%

“…Osteopoikilosis can be an isolated skeletal abnormality or may occur in association with diverse cutaneous manifestations as a component of Buschke-Ollendorf syndrome (BOS) (OMIM166700) [ 2 , 3 ]. The cutaneous manifestations of BOS, commonly manifesting in childhood, include connective tissue nevi and less frequently elastomas, collagenomas, and dermatofibrosis lenticularis (also called hypertrophic scar disseminata) [ 4 – 6 ]. The genetic basis for BOS was identified in 2004 by genome-wide linkage studies.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Korman

Wei

Laumann

et al. 2016

Case Reports in Dermatological Medicine

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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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