ARTICLE
Auteur(s) : María
del C. Boente1, Roxana Obeid2, Raúl A
Asial1, Hilda Bibas-Bonet2, Ana M
Coronel3, Rudolf Happle4
1Department of Dermatology, Hospital del Niño Jesús,
Pasaje Bertrés 224, SM de Tucumán, 4000, Argentina
2Department of Neurology, Hospital del Niño Jesús,
Tucumán, Argentina
3Department of Ophthalmology, Hospital del Niño Jesús,
Tucumán, Argentina
4Department of Dermatology, Philipp University of
Marburg, Marburg, Germany
accepté le 26 Mars 2008
The term phacomatosis pigmentovascularis (PPV) refers to a group
of birth defects characterized by the coexistence of an extensive
vascular nevus and a rather large pigmentary nevus [1]. Up to now
we distinguished three well-established types in the form of
phacomatosis cesioflammea, phacomatosis spilorosea and phacomatosis
cesiomarmorata [2]. However, there still remain exceptional cases
that cannot be assigned to this grouping [3-5]. From these so far
unclassifiable cases, some additional well-defined types of PPV may
emerge in the future. Here we report another peculiar example of
PPV, in the form of “phacomatosis achromico-melano-marmorata”.
Case report
The 8-year-old boy was born at term by caesarean section with a
birth weight of 2,800 g. His first minutes of life were complicated
by cyanosis and apnea with gastroesophageal reflux. Shortly after
birth, both vascular and pigmentary skin lesions were noted. At the
age of 18 months, pulmonary tuberculosis was recognized and treated
with tuberculostatic drugs and a pulmonary sequestrum was
surgically removed. A developmental delay was evident. He learned
to sit at 11 months and to walk at 20 months of age. At the age of
4 years the boy developed a soft nodular lesion on his right arm.
On physical examination, the boy had rather large, anteriorly
rotated ears, down-slanting of the right palpebral fissure, and
micrognathia (figure
1). His body appeared to be slightly asymmetric. Genu
valgum, talipes planus, increased laxity of joints and a scoliosis
with the convexity to the left were noted. He appeared to be
mentally retarded.
Large segmental areas of hypopigmentation were present on the
left side of the thorax and the left arm, and an adjacent segmental
area of hyperpigmentation involved the left arm (figures 2 A and B). These
skin lesions did not follow the pattern of Blaschko’s lines.
Additional smaller hypopigmented areas were present on the left
side of the chin (figure
1), the forehead, the scapular regions and the right foot.
Several of them showed somewhat triangular outlines. On the fingers
of the left hand melanonychia, which had developed after infancy,
was present. Moreover, a reticular pattern of vascular disturbance,
suggesting a diagnosis of cutis marmorata telangiaectatica
congenita, involved the entire body, with the exception of parts of
the right arm (figure
3). Multiple lentigines, that were not examined
histopathologically, were found in the genital region and on the
proximal part of the thighs (figure 3).
A soft nodule was present in the angle of the left elbow, and
MRI examination showed a homogeneous lesion located in the fatty
tissue and standing out from the adjacent muscles. After injection
of gadolinium a homogeneously filled vascular convolution was
documented. During the ninth year of life two similar subcutaneous
tumors developed on the forehead and the scalp. Histopathological
examination of the forehead lesion revealed a fibrohistiocytic
tumor with an arteriolar vascular component.
Ophthalmological examination showed disseminated nodular
melanocytic nevi involving both irides and a diffuse melanosis of
the conjunctivae. There was increased vascularization of the
conjunctiva of both eyes. The fundus was normal and the intraocular
pressure was not increased.
Additional diagnostic procedures such as electroencephalogram,
cerebral angio-MRI, electrocardiogram and cardiosonogram gave
normal results.
Discussion
The multiple birth defects present in this boy fulfill the criteria
of PPV but are so far unclassifiable. For obvious reasons,
phacomatosis cesioflammea and phacomatosis spilorosea can be
excluded, and a diagnosis of phacomatosis cesiomarmorata can
likewise be rejected out of hand because the pigmentary lesions of
our patient were quite different from the blue macules of nevus
cesius. Hence, to describe this peculiar case we propose the term
“phacomatosis achromico-melano-marmorata”.
All types of PPV may be best explained by the genetic mechanism
of non-allelic didymosis (twin spotting) [2]. Accordingly, the
coexistence of segmental lesions of pigmentary disturbance with
cutis marmorata telangiectatica congenita as noted in this boy
would represent an example of non-allelic didymosis.
On the other hand, the coexisting segmental achromic and
hypermelanotic skin lesions would be an example of cutis tricolor
[6, 7] and thus reflect an allelic didymosis. Cutis tricolor does
not represent one single entity but should rather be taken as a
cutaneous sign of several different types of mosaicism [8].
Neurological or other extracutaneous anomalies may or may not be
associated. The paired mutant patches of pigmentary disturbance
would be a counterpart of the coexistence of nevus flammeus and
nevus anemicus, as observed in phacomatosis cesioflammea and
proposed to represent an example of allelic didymosis [9], as well
as to the paired achromic and melanotic macules as described by De
las Heras et al. [10], in a so far unclassifiable case of
phacomatosis pigmentovascularis.
The arrangement of the large melanotic and achromic skin lesions
was reminiscent of patterns as documented in several previously
reported cases of cutis tricolor [6, 7]. It can so far not be
categorized because it is neither blaschkolinear nor phylloid nor
lateralized nor entirely checkerboard-like [11]. In some cases the
pattern appears to be patchy without midline separation [7],
whereas in our patient the lesions of cutis tricolor stopped at the
midline. Hence, the arrangement of the boy’s pigmentary lesions did
not correspond to any of the established archetypical patterns of
pigmentary mosaicism [12].
If the present case does indeed show both allelic and
non-allelic didymosis, we would predict that cases of simple twin
spotting in the form of “didymosis melanomarmorata” or “didymosis
achromicomarmorata” or “cutis tricolor” will be reported more
frequently than the more complex birth defects present in our
patient, because three different mutations simultaneously involving
a pair of homologous chromosomes will certainly occur more rarely
than two of them.
So far we cannot say with certainty to which of the two
non-allelic components of this twin-spot phenotype the multiple
subcutaneous aneurysmatic nodules of our patient may belong.
However, we favor the assumption that they are part of the CMTC
component, because similar vascular lesions such as “subcutaneous
venous hemangiomata” [13], “venous malformation” [14] or “diffuse
cortico-meningeal angiomatosis” [15], have been described in cases
of CMTC.
Psychomotor or mental retardation has been described in both
cutis tricolor [6, 16, 17] and CMTC [18, 19], which is why we can
so far not assign these anomalies to one of the two components. The
same is true for the facial and skeletal abnormalities of the
boy.
In conclusion we describe an unusual case of phacomatosis
pigmentovascularis characterized by the coexistence of cutis
tricolor and cutis marmorata telangiectatica congenita in
association with multiple neurological and skeletal defects, for
which we propose the name “phacomatosis
achromico-melano-marmorata”. We anticipate that the associated
mosaic skin lesions may also be observed in the form of “didymosis
achromicomarmorata” or “didymosis melanomarmorata”, in addition to
“cutis tricolor” which has already been observed in several
cases.
Acknowledgements
Financial support: none. Conflict of interet: none.
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