ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (19)
Buschke-Ollendorff syndrome - Skin
Print
Other Resources UpToDate PubMed

Buschke-Ollendorff syndrome - Skin

Print Images (19)
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
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q78.8 – Other specified osteochondrodysplasias

SNOMEDCT:
9147009 – Buschke-Ollendorff syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

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

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated: 03/29/2017
Copyright © 2019 VisualDx®. All rights reserved.
Buschke-Ollendorff syndrome - Skin
Print 19 Images Filter Images
View all Images (19)
(with subscription)
 Reset
Buschke-Ollendorff syndrome : Smooth papules, Osteopoikilosis, Smooth plaques
Clinical image of Buschke-Ollendorff syndrome
Copyright © 2019 VisualDx®. All rights reserved.