Professional Documents
Culture Documents
Craniofacial Dermoids
Craniofacial Dermoids
Sinus Cysts
JEAN-BAPTISTE CHARRIER, M.D., PH.D.
ISABELLE ROUILLON, M.D.
GILLES ROGER, M.D.
FRANCOISE DENOYELLE, M.D., PH.D.
PATRICE JOSSET, M.D.
EREA NOEL GARABEDIAN, M.D.
Objective: The nasal dermoid sinus cyst (NDSC) is an uncommon congenital
lesion presenting as a large panel of midline craniofacial anomalies. The objective of this study was to review and reanalyze embryological hypotheses
concerning NDSCs and to propose an embryological theory unifying the various anatomical characteristics of these lesions. The first case of frontal localization of a NDSC extending within the diploetic bone in a 9-month-old boy,
presenting as a median frontal fistula with recurrent frontal swelling, 6 months
after a mild frontal trauma is presented.
Results: Complete surgical removal was performed, and there was no evidence of either persistent or recurrent disease 2 years after his surgery. The
embryological and anatomical origins of NDSCs are reviewed. This article reexamines and discusses major embryological theories on NDSC pathogenesis
and proposes to refute the prenasal space theory of Grunwald and rehabilitate a forgotten embryological hypothesis, which unifies the main various clinical presentations of NDSCs.
KEY WORDS: craniofacial embryology, encephalocele, glioma, nasal dermoid
sinus cyst
Nasal dermoid sinus cyst (NDSC) is an uncommon congenital lesion. Since Cuvier (1891) described a patient with a haircontaining sinus of the medial dorsal nose that had been present since birth, many cases have been reported (Littlewood,
1961). Dermoids are lined by stratified squamous epithelium
associated with adnexal structures, which differentiate these
lesions from epidermoid cysts. They may contain hair follicles,
sebaceous glands, or eccrine glands. Unlike teratomas and teratoid cysts of the head and neck, which are derived from all
three embryonic layers (the mesoderm, the ectoderm, and its
derived neural crest mesectoderm and the endoderm), dermoids include only derivatives of the ectoderm and mesecto-
Dr. Charrier, Dr. Rouillon, Dr. Roger, Dr. Denoyelle, and Dr. Garabedian
are with the Department of Pediatric Ear, Nose, and Throat and Head and Neck
Surgery, and Dr. Josset is with the Department of Pathology, Armand Trousseaus Childrens Hospital, Paris, France.
Dr. Charrier is supported by the Delegation a` la Recherche Clinique de
lAssistance Publique-Hopitaux de Paris and the Centre National de la Recherche Scientifique.
Dr. Charrier is currently with the Department of Otorhinolaryngology and
Maxillofacial Surgery, Faculty of Medicine, Lariboisie`re Saint-Louis, University of Paris VII, Hopital Saint-Louis, Paris.
Submitted July 2003; Accepted November 2003.
Address correspondence to: Jean-Baptiste Charrier, Institut dEmbryologie
Cellulaire et Moleculaire du CNRS et du Colle`ge de France, 49 bis avenue de
la Belle Gabrielle, 94736 Nogent-sur-Marne, France. E-mail jean-baptiste.
charrier@college-de-france.fr.
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DISCUSSION
Many theories have been proposed concerning the various
clinical aspects of NDSC presentations to explain some of the
lesions anatomical characteristics and those of other lesions,
including gliomas and encephaloceles, but the pathogenesis of
NDSCs remains as obscure today as it was more than half a
century ago. The different embryological theories can be divided into two major groups: those in which developmental
epigenetic anomalies occur following an early cranial developmental defect leading to malformations located at the middle
skull base level and those that occur later during development
and morphogenesis leading to more superficial anomalies (at
the anterior skull base level or in the subcutaneous tissues)
(Table 1).
The deeply seated aberration theories have in common the
hypothesis that early during development, at around embryonic
day (E) 24 to E26 in utero (IU), during the process of anterior
neuropore closure, superficial ectoderm may be trapped outside the closing neuropore. Then the growth of the frontonasal
process can transport the free end of this ectodermal inclusion
or fistula down to the dorsum of the nose to develop an NDSC.
As a consequence, ectodermal cyst or tractus is deeply located,
leading to basal or posterior NDSC locations. We have adopted
the two main early cranial developmental hypotheses of Littlewood (1961) and Gosserez (1955).
In Littlewoods (1961) theory, the dura mater forms part of
the middle layer of the fetal trilaminar nasal septum. Because
dura mater was thought at the time to be derived from the
superficial ectodermal layer, the author proposed that during
normal development the epithelial elements of the dura disappear, but some ectodermal tissue may persist and later become incorporated into the nasal septum to form NDSCs.
However, recent results in fundamental research have shown
that the whole prosencephalic dura mater is derived from neural crest mesectoderm (Couly et al., 1993; Jiang et al., 2002).
Even though brain and skin share a common primitive ectodermal origin, the dura mater progenitors (i.e., the neural crest
cells that wrap the brain anlage during the early prosencephalic
growth process) have a clearly distinct origin from superficial
ectoderm. There is no connection between these origins at any
point during embryological development, which makes this
theory out of date.
Even if the true location of human neuropore closure is unknown, studies in experimental embryology in vertebrate models propose that the ventral lamina terminalis, located rostral
to the optic recess, represents the zone of final neuropore closure (Couly and Le Douarin, 1985, 1987; Puelles et al., 1987;
Cobos et al., 2001). Gosserez (1955) described a case in which
a nasal dermal sinus traversed the entire anteroposterior extent
through the cribriform plate, ending at the basisphenoid in
which it attached to the dura, just anterior to the sella turcica.
However, the author considered that the anterior neuropore
closure was located in the inferior part of the frontal bone,
which is erroneous. Thus, the frontal localization of the cyst
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FIGURE 1 Nasal dermoid sinus cyst. A, B. Before surgery. Mediofrontal fistulization and pit (arrowhead in A and dotted lines in B) in the upper one third
of the nasal dorsum. C through I. During surgery. C. Vertical incision surrounding the nasal pit and dissection of the sinus tract. D through G. Bicoronal flap
elevated with a periosteum flap (arrowheads in (D). Note the frontal osteitis (arrow in D). E. The upper tissue of the sinus tract is isolated and the sinus tract
is followed toward the nasal dorsum. G. Reconstruction with parietal bone chips. Frontal (H) and lateral (I) postoperative views are shown.
Sixty-one cases of NDSCs with intracranial extension are described in the literature including our three cases (see Charrier
et al., 2003 and references therein). Concerning the intracranial
extension of NDSCs, it seems important to us to distinguish:
the anterior intracranial NDSCs, with intracranial extension at
the anterior skull base level (frontal lobe or falx cerebri)
through a pathway corresponding to a deficient foramen caecum, cribriform plate, or nasofrontal fontanel from the basal
NDSCs, with intracranial extension at the middle skull base
level (basisphenoid, sella turcica, base of frontal lobe near the
lamina terminalis, and the optic chiasma), which are exceptional and most often associated with major brain malforma-
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FIGURE 2 Axial (A) and midsagittal (C) computed tomography scan images through nasal region in patient. Note the intraosseous penetration of the
fistula at the level of the frontonasal suture, the extension of the tract coursing through a bony canal within the frontal diploe (arrowhead), and its rostral
fistulization in the middle part of the frontal bone through the metopic suture. Note the absence of bifid crista galli (A). Axial (B) and midsagittal (D) T1weighted magnetic resonance images show high signal intensity in the bony diploetic canal (arrowhead). No intracranial components were found.
explains why intracranial extension of NDSCs is most frequently extradural, attached to the frontoethmoidal dura, or intrafalcial, confined within the leaves of the anterior falx. Thus, as the
primitive authentic intracranial intra-axial extension of an anterior NDSC (other than in an infectious context) has not been
clearly described, we propose that intra-axial extension of anterior NDSCs may be the consequence of a secondary intraaxial fistulization consecutive to the infectious process. The only
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FIGURE 3 A. Photomicrograph of part of the lesion (hematoxylin and eosin, 314; scale bar, 150 mm) demonstrating cyst cavity lined by squamous
epithelium (arrowhead) and filled with desquamated orthokeratinized material (asterisk). Surrounding connective tissues contains adnexal structures: hair
follicles (arrow) and sebaceous glands confirming the diagnosis of craniofacial dermoid. B. Increased magnification of squamous epithelium and hair follicle.
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way to demonstrate the primitive occurrence of intradural dermoid tissue would be the histological proof of stratified squamous epithelium associated with adnexal structures, occurring
without any inflammatory or infectious context.
The two main superficial or later-occurring developmental
hypotheses are the most commonly congruent with the prenasal space theory of Grunwald et al. (1910) and the cutaneous
theory of Bland-Sutton (1922).
The most attractive theory described by Grunwald (1910) is
the prenasal space theory. According to the author, the external
nose is cartilaginous at birth and forms the anterior wall of the
cartilaginous capsule of the nose. Adjacent to the cartilaginous
capsule of the nose, the nasal and frontal bones develop by
intramembranous ossification. There is a firm membrane between the paired frontal and the nasal bones, called by Zuckerkandl the fonticulus nasofrontalis (nasofrontal fontanel).
Thus, the anterior wall of the nasal capsule on one side, the
nasal bones and the nasofrontal fontanel on the other, and the
dura mater superiorly form a space. Grunwald called this fibrous area the prenasal space. According to the author, a dural
projection is normally present during embryological development, in close association with the skin of the nose. During its
development, a bony canal, the incisura ethmoidalis also
known as the foramen caecum, encircles this dural projection,
which contains a dural cerebrospinal fluid-filled diverticulum.
Any failure of this dural connection to obliterate completely
leaves a pathway along which ectodermal remnants and glial
tissues may exist. This theory led Brunner and Harned (1942)
and then Sessions (1982) to reactivate Grunwalds embryological spectrum, which unifies prenasal NDSCs, intranasal gliomas, and nasoethmoidal encephaloceles. Moreover, any failure
in complete obliteration of the nasofrontal fontanel leaves another anterior pathway not only for nasofrontal NDSCs but
also for extranasal gliomas or nasofrontal encephaloceles (see
Fig. 32 in Sessions, 1982). This theory is very attractive because of the embryopathogenic continuum proposed among
dermoids, gliomas, and encephaloceles. All anterior or superficial theories recognize the fact that a displaced ectoderm has
been located within the prenasal space with a dural neurectodermal remnant. However, the whole theory is based on the
incorrect assumption that the dura mater is of neural ectoderm
derm and the cephalic dermal mesenchyme of neural crest origin are necessary as is the case during normal development
of the skin (Sengel, 1975). These interactions must occur early
enough during embryological development, before the commitment of the different tissues. Body plan formation of the
embryo occurs in a craniocaudal sequence through a complex
of embryonic folding that converts the embryo from a flat disc
into a three-dimensional structure along the midline symmetry
axis.
Craniofacial development is the consequence of ventral
folding and fusion of five facial swellings between the 4th and
10th weeks IU. Formation of the medial and unpaired frontonasal prominence implies ventral fusion at the line of closure
of the internasal fissure. The substantial variability in the topography of anterior NDSCs represents an anatomical continuum, which can be correlated to the instant of ectodermal inclusion during embryonic development. We propose that early
ectodermal inclusion events may occur in this median fusion
area between E25 and E55 of human embryonic development
IU. Because the inclusion phenomenon occurs early enough to
permit epithelial-mesenchymal interactions and is always located in the ventral midline fusion area, the consequence is
the formation of an axial dermoid cyst or sinus. The earlier
the inclusion phenomenon occurs, the deeper the NDSC is
located within the midline structures. In our case, (the first case
of frontal intradiploic NSDC described in the literature), the
topography of the sinus is located toward the upper part of the
nasal bones and then within the dipole of the axial axis of the
membranous frontal bones. The secondary midfrontal osseous
and cutaneous fistula appears as the result of spontaneous rupture of the cyst after trauma and infection. The case presented
in this report may correspond to an inclusion phenomenon
around E42 of human embryonic development. This case constitutes the link between the subcutaneous NDSCs, which correspond to late ectodermal inclusion at about E50, and the
NDSCs of the prenasal space, which corresponds to the
early ectodermal inclusion in the fibrous zone of fragility
of the prenasal space at about E30 IU. Cartilaginous development of the nasal capsule precedes membranous ossification
of nasal and frontal bones, which explains the preferential topography of NDSCs, more often situated superficially with
regard to the nasal capsule, especially the nasal septum. The
natural history of the cyst is the growth by epidermal desquamation and adnexal gland secretion. Because cartilage is resistant to pressure, extension of the cyst more often occurs
anteriorly through the zone of fragility of the anterior nasofrontal fontanel, which explains the preferential anterior extension of NDSCs through the frontonasal suture rather than posteriorly through the anterior skull base in the direction of the
sphenoidal bone.
Moreover, dermoid cysts located superficially to the nasal
bones without skin fistula represent more than 40% of all nasal
dermoid sinus cysts (Hughes et al., 1980; Denoyelle et al.,
1997; Charrier et al., 2003). The prenasal space theory does
57
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