Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report

Wei Kai Hung, Meng Han Shen, Kuan Yu Chen, Wen Hung Chung, I. Hsin Shih, Chia Hsieh Chang, Chin Yi Yang

Research output: Contribution to journalArticlepeer-review


Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. However, BOS may develop severe, symptomatic complications that require surgical intervention. Here we report a 9-year-8-month girl presenting with multiple nonpruritic, nonpainful skin plaques scattered around the trunk, buttocks, and bilateral legs. She had a history of right varus foot with inadequate plantar flexion. Upon visiting, obvious leg length discrepancy (LLD) was noted. Lesional biopsy revealed increased fibroblasts within dermal collagen bundles. Verhoeff-van Gieson stain revealed scattered foci of thickened elastic fibers between collagen fibers, especially in the mid-dermis. Radiographic examination of the lower extremities showed multiple small, round-to-oval shaped, radiopaque spots on the pelvic bones, femurs, tibiae, and both feet. Hyperostosis along the long axis with “dripping candle wax” appearance was characteristic of osteopoikilosis and melorheostosis. Genetic analysis showed heterozygous point mutation in exon 1 of LEMD3 gene (c.1323C>A, p.Y441X), confirming diagnosis of BOS. Sequential and epiphyseodesis were performed to correct LLD with a favorable outcome at 2-year follow-up. BOS associated with severe bone abnormalities is rare, but orthopedic surgical intervention can provide satisfactory outcome.

Original languageEnglish
Pages (from-to)292-295
Number of pages4
JournalJournal of Musculoskeletal Neuronal Interactions
Issue number2
Publication statusPublished - 2022
Externally publishedYes


  • Buschke-Ollendorff Syndrome
  • Connective Tissue Nevi
  • LEMD3
  • Melorheostosis
  • Osteopoikilosis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Orthopedics and Sports Medicine


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