Clinical Letter Buschke-Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia DOI: 10.1111/ddg.13446 Dear Editors, Buschke-Ollendorff syndrome (BOS) (OMIM 166700) is an autosomal dominant connective tissue disorder that was first described in 1928 by Abraham Buschke and Helene Ollen- dorff-Curth. It is defined by the coexistence of connective Figure 1 Triangular, completely hairless yellowish plaque with tissue nevi and osteopoikilosis with a good prognosis. Skin a diameter of 10 cm on the occiput of a 60-year-old woman. and skeletal lesions may occur independently [1–3] since af- fected persons may not express the full phenotype. Here we describe the unusual case of a 60-year-old woman with iso- lated nevus elasticus and a mutation in the LEMD3 (LEM the occipital bone underlying the affected skin. Recent radio- Domain Containing 3) gene. graphs of the spine, hands and feet revealed no foci of fibrosis The patient presented after years of failed topical treat- or sclerosis but evidence of degenerative changes. ment with external corticosteroids. She reported a hairless Based on these findings we suspected Buschke-Ollen - area at the occiput with a history of 25 years, and a second dorff syndrome (BOS). lesion nearby that appeared two
Journal Der Deutschen Dermatologischen Gesellschaft – Wiley
Published: Jan 1, 2018
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.
All for just $49/month
Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.
Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.
It’s easy to organize your research with our built-in tools.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera