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Buschke-Ollendorff syndrome - Skin
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Buschke-Ollendorff syndrome - Skin

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly MD
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Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant disorder that includes connective tissue nevi and bone findings. Incidence is thought to be 1:20,000. BOS is caused by a loss-of-function mutation in LEMD3, which codes for a nuclear membrane protein. Elastin production is higher than normal in both involved and uninvolved skin. The clinical presentation of patients with BOS is broad but typically includes connective tissue nevi – either collagen (dermatofibrosis lenticularis disseminata) or elastin (juvenile elastinoma) – along with osteopoikilosis, a classic radiographic finding. There may be a family history of similar cutaneous lesions, but commonly great variability exists in degree of presentation within families.

Individuals develop the characteristic connective tissue nevi in the first 2 decades of life, with osteopoikilosis developing before puberty. Bone findings are typically incidental, as the lesions are asymptomatic.

There is no increased morbidity associated with this syndrome, but diagnosis may help prevent costly medical work-up.

For more information, see OMIM.


Q78.8 – Other specified osteochondrodysplasias

9147009 – Buschke-Ollendorff syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Pseudoxanthoma elasticum – Histology will show fragmented, mineralized calcium that looks similar to "raveled wool."
  • Juvenile hyaline fibromatosis – Can have osteolytic bone lesions in addition to subcutaneous nodules. Histology will show fibroblasts with intracytoplasmic eosinophilic granules.
  • Familial cutaneous collagenomas – Numerous symmetric collagenomas typically on the back.
  • Papular elastorrhexis – Scattered white papules on the trunk with decreased elastic fibers seen histologically.

Best Tests

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Last Updated: 03/29/2017
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Buschke-Ollendorff syndrome - Skin
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Buschke-Ollendorff syndrome : Smooth papules, Osteopoikilosis, Smooth plaques
Clinical image of Buschke-Ollendorff syndrome
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