Acta Dermato-Venereologica 99-10CompleteContent | Page 23
915
SHORT COMMUNICATION
Cellular Angiofibroma: Case Report of a Unique Subungual Presentation
Christophe PERRIN 1 , Giuseppe E. CANNATA 2 , Florence PEDEUTOUR 3 , Bérengère DADONE-MONTAUDIÉ 1,3# and Damien
AMBROSETTI 1#
Central Laboratory of Pathology, Nice University Hospital, 30, Avenue Voie Romaine- CS 51069, FR-06001 Nice, Cedex 1, France, 2 Department
of Dermatology, Imperia Hospital, Imperia, Italy, and 3 Laboratory of Solid Tumors Genetics, Institute for Research on Cancer and Aging of
Nice (IRCAN) CNRS UMR 7284/INSERM U1081, Université Côte d’Azur, Nice University Hospital, Nice, France. E-mail: [email protected]
#
These authors contributed equally to this work.
1
Cellular angiofibroma (CAF) is an uncommon benign
mesenchymal tumour that occurs in both sexes, mainly
in the genital region. Extragenital CAF is rare, with fewer
than 10 cases reported to date (1–3) and, to the best of our
knowledge, there has been no report of CAF occurring in
the subungual or periungual region. We describe here the
first case of CAF of the subungual region of the toe. Im-
munohistochemical features and fluorescence in situ hy-
bridization (FISH) ruled out more aggressive neoplasms,
such as low-grade fibromyxoid sarcoma (LGFMS) and
myxoid dermatofibrosarcoma protuberans (DFSP).
CASE REPORT
A 46-year-old man presented with a 2-year history of onychodys-
trophy of the radial aspect of his right big toe. Physical examination
revealed a longitudinal area of yellow discoloration extending most
of the length of the nail. Head-on view of the nail unit revealed
a focal overcurvature of the nail plate and a localized subungual
hyperkeratosis, mimicking thickening of the nail plate. However,
the distinct honeycomb pattern typical of onychomatricoma was
absent. On closer examination, the head of a red nodule was vi-
sible with a distal horny cap, which had lifted the nail plate with
destruction of the nail plate distally (Fig. 1A). The lesion was
tender to pressure. The other nails appeared normal, and palpation
revealed no regional lymphadenopathy. Radiography showed a
soft-tissue swelling without periostitis or bone erosion. The plaque
measured grossly 2 × 1.3 × 1 cm and extended from the matrix to
the hyponychium. Removal of the lesion was performed with a
longitudinal incision.
Histopathologically, the tumour was superficially relatively
well-demarcated, with pushing margins separated from the nail
epithelium by a thick dermis (Fig. 1B). The deeper borders of the
tumour were irregular, with short fascicles infiltrating the sub-nail
region. The tumour was composed of bland-looking spindle cells
arranged in a vague storiform pattern within a myxoid stroma in-
terspersed with wispy collagen bundles (Fig. 1B, C). The abundant
vessels were small-to-medium size with thick hyalinized walls
(Fig. 1C). There was no cellular atypia and no mitotic figures were
found. Numerous mast cells were seen scattered within the myxoid
stroma. Nodule of adipose tissue was not observed. Tumour cells
displayed strong positivity for CD34, CD10, and focal staining for
bcl2 (B-cell lymphoma 2) and p16 (a protein coded by the cyclin-
dependent kinase inhibitor 2A gene (CDKN2A), but were negative
for nestin, CD99, EMA (epithelial membrane antigen), MUC4
(mucin 4), smooth muscle actin, desmin, oestrogen/progesterone
receptors and androgen receptors. Most of the tumour cells were
positive for mouse double minute 2 (MDM2) but negative for
cyclin dependent kinase 4 (CDK4).
FISH analysis ruled out myxoid dermatofibrosarcoma protube-
rans (DFSP). Array-comparative genomic hybridization (aCGH)
analysis (Fig. 1D) showed only losses of chromosomal segments,
notably losses of the long arms of chromosome 13 (including the
RB transcriptional corepressor 1 gene, RB1) and chromosome 16.
Notably, there was no MDM2 amplification, despite positivity for
MDM2 in immunohistochemistry.
The overall findings were consistent with a diagnosis of CAF.
The tumour was completely excised with free margins. No evi-
dence of recurrence with 8 months of follow-up was observed.
Accepted Feb 26, 2019; E-published Feb 27, 2019
Fig. 1. (A) Subungual lesion deforming the
nail plate of the right big toe. (B) Scanning
power (×40) showing a relatively well
circumscribed subdermal nodule separated
from the nail bed epithelium by a thick nail-
bed dermis. The lesion was composed of
fascicles of spindled cells embedded in myxoid
stroma. (C) Higher magnification (×200) of
the prominent vascularization with thick-
walled, concentrically, hyalinized vessels. (D)
Comparative genomic hybridization on array
(aCGH) results: quantitative whole-genome
profile showing partial losses of chromosomes
6q, 10p, 13q, 16q and 20p (log ratio –0.50).
Black line represents the ratio of intensity of
cyanine 5 and cyanine 3, corresponding to
the tumour DNA and to the human reference
DNA, respectively.
This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta
Journal Compilation © 2019 Acta Dermato-Venereologica.
doi: 10.2340/00015555-3152
Acta Derm Venereol 2019; 99: 915–916