© 2018 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2018/1603
Buschke-Ollendorff syndrome due to a novel
mutation – an unusual case of alopecia
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
tissue nevi and osteopoikilosis with a good prognosis. Skin
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
Domain Containing 3) gene.
The patient presented after years of failed topical treat-
ment with external corticosteroids. She reported a hairless
area at the occiput with a history of 25 years, and a second
lesion nearby that appeared two years ago. The lesions were
asymptomatic but she noticed a slight increase in the size of
both areas. She also reported bone pain in the large joints
and the lower legs. Her ﬁrst-degree relatives did not report a
history of similar lesions or bone diseases.
Physical examination showed a triangular, completely
hairless yellowish atrophic plaque with a diameter of 10 cm
(Figure 1) at the occiput and a similar lesion nearby with a
diameter of 4 cm. The lesions had no hair follicle apertures
or signs of inﬂammation, even at the margins. There were
no other conspicuous ﬁndings at the time of examination.
Several causes for scarring alopecia were considered in the
differential diagnosis, including lupus erythematosus, sclero-
derma, lichen planopilaris, pseudopelade of Brocq, skin tu-
mors, nevus elasticus and nevus mucinosus.
The antinuclear antibody titer was positive (1 : 500, ho-
mogenous and nucleolar pattern, IgG), but test results were
negative for autoantibody detection using FEIA (ﬂuorescen-
ce enzyme immunoassay) (Scl70, CENP, ds-DNA, CCP) as
well as Borrelia serology and the blood glucose proﬁle. His-
tological workup of two skin biopsies (center and margin)
of the more recent lesion stained with hematoxylin-eosin,
resorcin-fuchsin and alcian blue showed orthokeratosis and
pseudopelade without inﬂammatory changes, but clearly in-
creased and coarsened elastic ﬁbers in the dermis without
evidence of mucin (Figure 2). The biopsy from the margin
showed a decreased quantity of hair follicles with perifolli-
cular ﬁbrosis, but no hair follicles were seen in the center.
Computed tomography revealed a missing external lamina of
the occipital bone underlying the affected skin. Recent radio-
graphs of the spine, hands and feet revealed no foci of ﬁbrosis
or sclerosis but evidence of degenerative changes.
Based on these ﬁndings we suspected Buschke-Ollen-
dorff syndrome (BOS).