Paul Wylock Æ Jose
An unusual case of neuroﬁbromatosis
Received: 16 September 2004 / Accepted: 3 January 2005 / Published online: 10 May 2005
Ó Springer-Verlag 2005
Abstract Neuroﬁbromatosis (von Recklinghausen’s
disease) is a hereditary and autosomal dominant disor-
der that produces pigmented spots (cafe
au lait spots)
and tumors of the skin and of the peripheral, optic and
acoustic nerves, and subcutaneous and bony deformi-
ties. Giant plexiform neuroﬁbroma can pose a formi-
dable surgical challenge. Excision of these tumors can be
complicated due to size, location and hypervascularity.
An unusual case of a giant neuroﬁbroma of the back is
Keywords Neuroﬁbromatosis Æ von Recklinghausen’s
The full expression of this frequently-occurring disorder,
also termed neuroﬁbromatosis or von Recklinghausen’s
disease, has long been recognized. The mutation
responsible for this most common form of neuroﬁbro-
matosis is in a large gene on the long arm and near the
centromere of chromosome 17. Its precise localization
(17q11.2) is close to the gene for nerve growth-factor
The disease spares no races and shows a population
incidence of 1 in 3,000. Neuroﬁbromatosis is one of the
most common human Mendelian disorders .
An unusual case of a giant neuroﬁbroma and a re-
view of the literature is presented.
On admission, examination revealed a 50-year-old
man of normal stature in good general health. The
whole of his skin was covered with many pea-like
neuroﬁbromas (Figs. 1, 2). The onset of his disease
started in his youth. On his back a neuroﬁbroma
developed into a giant tumor over the last 20 years.
He became isolated and lived alone with his mother.
Trophic skin problems related to the tumor forced
him to ask for medical help (Figs. 3, 4).
A de-bulking operation was performed. It was nec-
essary to ligate multiple small arteries and multiple ﬁn-
ger-thick veins with very thin walls. A tumor of 16 kg
was removed (Figs. 5, 6).
Blood transfusions were necessary preoperatively and
The postoperative course was uneventful (Figs. 7, 8).
Microscopic examination revealed a gigantiform
plexiform neuroﬁbroma without malignant degenera-
tion (Fig. 9).
Friedrich Daniel von Recklinghausen (1833–1910) was
one of Virchow’s (1821–1902) most distinguished pupils
(Fig. 10). He gave a classical description of neuroﬁbro-
matosis, adding much to the knowledge of the condition
in his article ‘‘Ueber die multiplen Fibrome der Haut
und ihre Beziehung zu den multiplen Neuromen’’, which
later became known as ‘‘von Recklinghausen’s disease’’.
This article appeared as a contribution to the Virchow
Festschrift, published in 1882 in Berlin . Von Rec-
klinghausen was professor of pathologic anatomy ﬁrst in
ningsberg from 1865 to 1866, then in Wu
Presented at the autumn meeting of the Belgian Society of Plastic,
Reconstructive and Aesthetic Surgery on 29 November 2003 at
P. Wylock (&) Æ J. Garcia Ceballos
Department of Plastic, Reconstructive and Aesthetic Surgery,
Academisch Ziekenhuis Vrije Universiteit Brussel,
Laarbeeklaan 101, 1090 Brussels, Belgium
Eur J Plast Surg (2005) 28: 247–251