Buschke‐Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678 presenting as multiple subcutaneous nodules with mucin deposition

Buschke‐Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh‐colored papules and nodules, which may coalesce into plaques and increase...

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Bibliographic Details
Published inJournal of cutaneous pathology Vol. 48; no. 1; pp. 77 - 80
Main Authors Xu, Zhijun, Yang, Chao, Xue, Ruzeng
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.01.2021
Wiley Subscription Services, Inc
Subjects
Collagen
Connective tissue diseases
connective tissue nevus
Dermis
Hereditary diseases
Mucin
mucin deposition
Mutation
Nevus
Nodules
osteopoikilosis
Plaques
Point mutation
Skin diseases
Skin lesions
connective tissue nevus
mucin deposition
osteopoikilosis
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Summary:Buschke‐Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh‐colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26‐year‐old male with multiple subcutaneous nodules on the waist and thigh for more than 20 years. Being deeply seated, his skin lesions were not visible and could only be appreciated by palpation. Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the LEMD3 gene was detected, which confirmed the diagnosis of BOS. The deeply situated nature of skin lesions noted in our case has not been reported in the literature of BOS. Our case thus expands the clinical and pathological features of the disease.
Bibliography:Funding information
National Natural Science Foundation of China, Grant/Award Number: 81703123
Zhijun Xu and Chao Yang contributed equally to this work, and should be considered joint first authors.
ISSN:0303-6987
1600-0560
DOI:10.1111/cup.13771