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Extensive Mongolian Spots with Facial
Involvement
associated
with
Immune
Thrombocytopenia and Spina Bifida in a 3month-old Infant: Case Report
Abdul Rahman Shahein1, Rasha T Hamza2, Heba Elsedfy2
Address: 1 Department of Pediatrics, Hospital for sick Children, 555
University Avenue, Toronto, Ontario M5G 1X8, Canada; 2 Department of
Pediatrics Endocrinology, 38 Abbassia, Cairo, Egypt.
Corresponding author email address: [email protected]
ABSTRACT
Introduction Mongolian spot is a common congenital developmental skin lesion
which appears during the first week of life most commonly on the lower back and
buttocks. Extensive forms of mongolian spots have been reported with inborn errors
of metabolism which tend to persist through life. Case presentation We report a 3month-old male infant who presented with extensive mongolian spots involving the
face and buccal mucosa which appeared since birth. Facial lesion measured 7cm x 8
cm and was associated with spina bifida occulta detected by CT scan of the spine.
Immune thrombocytopenia was also diagnosed at the same time [peripheral
thrombocytopenia and hyperplastic megakaryocytes with defective separation] and
treated with intravenous immunoglobulins. Conclusion Mongolian spot occurs in a
large scale at the Pediatrics arena and further studies of its associations are warranted.
Keywords: mongolian, buccal mucosa, face, thrombocytopenia, nevus,
ota, melanosis, ito, gangliosidosis
MANUSCRIPT TEXT
Introduction
Mongolian spot is a common macular blue grey congenital developmental skin lesion
which typically appears during the first week of life with most of them fading away
by the fourth year
[5].
Mongolian spots are most commonly observed on lumbosacral
(80%), gluteal (35%), and back (18.7%) regions. Less common localizations
encountered were hairy skin, knees and feet
[1].
It is a subclass of dermal
melanocytoses which also includes nevus of Ota and Ito. Nevus of Ota and Ito are
rather speckled coalescing macules or patches associated with a risk of malignant
transformation [6].
Dermal melanocytoses occurs due to entrapment of melanocytes migrating originally
from the neural crest. The migration is regulated by exogenous peptide growth factors
that work by the activation of tyrosine kinase receptors
[7].
It is postulated that
accumulated metabolites such as gangliosides (GM1) and heparan sulfate lead to
aberrant neural crest migration and severe neurological manifestations
[9].
Few cases
of extensive mongolian spots have been reported with inborn errors of metabolism,
the most common being Hurler syndrome, followed by gangliosidosis type 1,
Niemann-Pick disease, Hunter syndrome, and mannosidosis. In such cases, they are
likely to persist rather than resolve [9]. Mongolian spots were reported to be associated
with
cleft
lip,
spinal
meningeal
tumor,
melanoma,
and
phakomatosis
pigmentovascularis types 2 and 5 [8].
Case presentation
A three month-old dark coloured Egyptian male infant, the second born to non
consanguineous parents having mongolian spots with involvement of the face noted at
birth. He was born full term, 3.4 kg by normal vaginal delivery, cephalic presentation.
There was no history of drug intake or alcohol consumption nor fever or rashes during
pregnancy. There was neither family history of similar cases or other neurological and
metabolic disorders nor history suggestive of trauma or child abuse. The facial lesion
measured about 7 cm x 8 cm in the form of bluish grey patches over the right cheeks,
forehead and around the right eye without involvement of the conjunctiva (Fig 1A).
Similar lesions were noted at the buccal mucosa on the same side (Fig 1B), over the
sacrococcygeal area, buttocks, upper and lower limbs (Fig 1C, D). All the lesions
were uniform in intensity. He experienced a single attack of coffee ground
hematemsis during his admission. The patient was neurologically free on clinical
examination. Laboratory work up revealed: Haemoglobin 6.6 gm/dl, TLC 7.9 x
103/uL, lymphocytes 84%, platelet count 10 x 103/uL, MCV 81.7 fL, MCH 24.8 pg,
MCHC 30.3 gm/dL, RDW 19.1%, INR: 1.23, PTT 41.5 sec (N: 28-40 sec), corrected
reticulocytic count 2%, negative direct & indirect coomb’s tests as well as CRP.
Bone marrow aspiration showed hyperplastic megakaryocytes with defective
separation denoting idiopathic thrombocytopenic purpura. Contrasted CT scan of the
brain was normal while that of the spine revealed spina bifida. The patient was
diagnosed as having multiple mongolian spots including the face, uncomplicated
spina bifida and immune thrombocytopenia. The latter was treated with intravenous
immunoglobulins 1gm/kg/day for two successive days and the platelet count
increased persistently to 422 x 103/uL. Follow up after 3 months did not show
noticeable change in the size or colour of the spots.
Discussion
Our patient presented with an atypical and rare form of mongolian spots which
appeared on the face and buccal mucosa since birth. Mongolian spots, which are
benign congenital lesions, observed in the first years of life, can cause distress for
parents. Therefore, an efficient differential diagnosis is necessary
[1].
There was a
previous report of a Chinese baby girl born with a mongolian spot on the temporal
area associated with gastro-esophageal reflux disease [7]. Also, Leung et al. [2] reported
a Chinese infant boy with a mongolian spot on the scalp. Tanyasiri et al. [14] reported a
1-year-old boy having a greyish pigmentation on the left side of his face over the area
supplied by the mandibular branch of the trigeminal nerve. Another nine month-old
male infant had generalized diffuse blue-grey pigmentation over most of his body,
sparing the scalp, face, neck, palms, soles, periumbilical area, genital area, and nipples
which resolved after 16 months [3].
In our case, thrombocytopenia occurred coincidently at the time of presentation.
Immune thrombocytopenic purpura affects children at any age, but the prevalence
peaks in children aged 3-5 years. Sturge-Weber syndrome and possible diseases
associated with mechanical platelet consumption were excluded by absence of
hemangiomas on contrasted CT scan of the brain and abdomen. Leung et al.
[4]
reported cases of Klippel–Trenaunay and Sturge–Weber syndromes associated with
extensive mongolian spots, hypoplastic larynx and subglottic stenosis. Uysal et al. [10]
described a Turkish girl with phakomatosis pigmentovascularis type 2b, consisting of
disseminated mongolian spot-like maculae and unilateral Sturge-Weber angiomatosis.
To the best of our knowledge, no data could be traced in literature about the
association of mongolian spots with spina bifida.
The prevalence of mongolian spots varies among different ethnic groups and is most
common among Asians. It also has been reported in 96% of Caucasian children, 80%
of East Africans, 47% of Brunettes, 46% of Hispanics, 1-9% of white children and 0%
of blonde children
[13].
Egemen et al.
[1]
stated that the prevalence of mongolian spots
among Turkish children (Aegean) lies between the values of Hispanics and
Caucasians, which is also similar to that of Australian newborns studied by Rivers et
al. [11]. In a study done by Onayemi et al. [12], mongolian spots were reported to occur
in 44.7% of Nigerian infants aged 0-14 months. This diversity illustrates the role of
ethnic origin on the prevalence of mongolian spots [13].
Conclusion
We should be aware about the rare presentations of this benign “mongolian spots”
condition in order to avoid distressing parents.
LIST OF ABBREVIATIONS
CM
Centimetre
CT
Computerized Tomography
CRP
C - reactive protein
TLC
Total Leukocytic Count
GM1 Gangliosidosis type 1
Kg
Kilogram
MCV Mean Corpuscular Volume
MCH Mean Corpuscluar Haemoglobin
MCHC Mean Corpuscular Haemoglobin Concentration
fL
Femtolitre
pg
Pico gram
Gm
gram
RDW Red cell distribution width
PTT
Partial Thromboplastin Time
INR
International normalized ratio
Sec
Second
uL
Micro litre
N
Normal
CONSENT
"Written informed consent was obtained from the patient for publication of this case
report and accompanying images. A copy of the written consent is available for
review by the Editor-in-Chief of this journal." The consent is taken on August 2nd
2008 with attendance of Dr Abdul-Rahman Shahein.
COMPETING INTERESTS
“The author(s) declare that they have no competing interests’'.
ACKNOWLEDGEMENTS
I would like to thank my family and my professor Dr Alyaa Kotby for her support and
help.
REFERENCES
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characteristics of mongolian spots among Turkish children in Aegean region.
Turk J Pediatr 2006; 48: 232-6.
[2] Leung AK, Kao CP. Extensive mongolian spots with involvement of the scalp.
Pediatr Dermatol.1999; 16 (5):371-2.
[3] Park KD, Choi GS, Lee KH. Extensive aberrant Mongolian spot. J Dermatol.
1995; 22(5):330-3.
[4] Leung A.K.C, Lowry R.B, Mitchell I, Martin S, Cooper DM. KlippelTrenaunay and Sturge-Weber syndrome with extensive Mongolian spots,
hypoplastic larynx and subglottic stenosis. Clinical and Experimental
Dermatology 1988; 13 (2), 128–32.
[5] Mallory SB. Neonatal skin disorders. Pediatr Clin North Am. 1991; 38(4):74561.
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temporal area. Int J Dermatol 2001; 40(4): 288-9.
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Clin Exp Dermatol. 2000 Jan; 25(1):51-4.
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[10] Uysal G, Güven A, Ozhan B, Oztürk MH, Mutluay AH, Tulunay O.
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[12] Onayemi O, Adejuyigbe EA, Torimiro SE, Oyelami O, Jegede OA.
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literature review. Clin Pediatr (Phila). 1981; 20(11):714-9.
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2007; 34(6):381-4.
Figures and Figure legend
(A)
(B)
(C)
(D)
Figure 1, Right facial lesion 7 cm x 8 cm bluish gray macular facial lesion involving
the Right temporal, peri-ocular and maxillary areas (arrowhead; Fig 1A). Buccal
lesion, bluish gray pigmentation of the right buccal mucosa (arrowhead; Fig
1B).Lower back and sacrococcygeal lesions, bluish gray pigmentation of the same
intensity (arrowhead; Fig 1C).Left lower limb lesions, Bluish gray lesions involving
the skin of left knee and leg (arrowhead; Fig 1D).