ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (5)
Buschke-Ollendorff syndrome in Adult
Other Resources UpToDate PubMed

Buschke-Ollendorff syndrome in Adult

Contributors: Nnenna Agim MD, Amy Fox MD, David Dasher MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant disorder featuring connective tissue nevi and/or skeletal abnormalities. Incidence is thought to be 1:20 000. The clinical presentation is variable and may include any combination of collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata), elastomas, osteopoikilosis, and melorheostosis.

BOS is caused by a loss-of-function mutation in LEMD3, which encodes a nuclear membrane protein, MAN1. Elastin production is higher than normal in both involved and uninvolved skin; lesional fibroblasts have been estimated to produce up to 8 times more tropoelastin (elastin precursor) than control fibroblasts. This condition is characterized by variable expressivity, evidenced when comparing individuals with mutations in LEMD3, even within the same family. It has been postulated that the presence of melorheostosis may represent acquisition of an additional somatic mutation in LEMD3 in the affected areas. Scoliosis has also been associated with LEMD3 mutations. Some patients have only skeletal manifestations derived from similar LEMD3 mutations; they are considered to have autosomal dominant osteopoikilosis.

Patients 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 mostly asymptomatic. Limb length discrepancy has been reported. There are reports of joint pain and stiffness, usually with underlying osteopoikilosis or melorheostosis. Spinal stenosis may also be associated with osteopoikilosis.

There is usually no increased morbidity associated with this syndrome, but diagnosis may help prevent costly medical workup. One family had an association with late onset morphea. One patient with extensive cutaneous findings also had joint stiffness and hoarseness due to lingual elastosis and leukoplakia.

For more information, see OMIM.

Codes

ICD10CM:
Q78.8 – Other specified osteochondrodysplasias

SNOMEDCT:
60399005 – Dermatofibrosis lenticularis disseminata

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Pseudoxanthoma elasticum – Histology will show fragmented, mineralized, calcified elastin similar to "raveled wool." The cutaneous lesions have a similar yellowish tinge, but the primary papule is smaller, a conglomeration of which yields the "plucked chicken" appearance.
  • Juvenile hyaline fibromatosis – Can have osteolytic (rather than osteosclerotic) bony lesions in addition to subcutaneous nodules. Histology will show fibroblasts with intracytoplasmic eosinophilic granules.
  • Familial cutaneous collagenomas – Numerous symmetric collagenomas, typically on the back. Functional abnormalities of LEMD3 have been associated with familial cutaneous collagenomas; they may lie on a spectrum with BOS.
  • Papular elastorrhexis – Scattered white papules on the trunk with decreased elastic fibers seen histologically.
  • Scalp lesions may be mistaken for nevus sebaceus, discoid lupus erythematosus, pseudopelade of Brocq, or nevus mucinosis.

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:09/09/2020
Last Updated:09/13/2020
Copyright © 2022 VisualDx®. All rights reserved.
Buschke-Ollendorff syndrome in Adult
Buschke-Ollendorff syndrome : Osteopoikilosis
Clinical image of Buschke-Ollendorff syndrome
A close-up of smooth, slightly yellowish papules and plaques.
Copyright © 2022 VisualDx®. All rights reserved.