Buschke-Ollendorff syndrome - Skin
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
- 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.