Download Female Twins with Incontinentia Pigmenti and Concurrent Neonatal

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າϠ‫׊‬ಏ৷ ৃঽ߲ຏߖ
࣫‫ܫ‬ඕ
ᆒ‫ڌ‬໚
੼လӖ
̋̚ᗁጯ̂ጯ‫ܢ‬నᗁੰϩቲࡊ
Female Twins with Incontinentia Pigmenti and
Concurrent Neonatal Herpes Simplex Virus Infection
Hsin-Chieh Tang
Tun-Yuan Liu
Chia-Chun Kao
Rows of vesicles over erythematous bases are the typical cutaneous lesions of the first stage of
incontinentia pigmenti (IP). But the clinical lesions share the same features with herpetic vesicles. We
present a couple of female twins with generalized vesicular eruptions over the trunk and limbs at birth.
The pathologic findings were consistent with first stage IP. In addition, an isolated group of vesicles
was noted at the vertex of the scalp. Pathologic examination and viral culture proved herpes simplex
virus ( HSV ) infection. Ophtholmologic examination demonstrated retinopathy which consisted of
venous engorgement and soft exudates on the retina. Viral cultures of the eyes were positive for herpes
virus. Because the course or management of IP and HSV infection is quite different, we suggest that
both of the diseases need to be considered in the differential diagnosis of neonatal blistering disorders.
(Dermatol Sinica 21 : 293-297, 2003)
Key words: Incontinentia pigmenti, Herpes simplex virus
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۞ᐝ౤˯൴ன˘ཏ፾ϲ۞ͪ‫ڽ‬Ąঽந̷ͯᄃঽ߲ૈዳᙋ၁˞‫ࠎ׎‬ಏ৷
ৃঽ߲۞ຏߖĄீ
ࡊ۞ᑭߤ൴னѣෛშቯᐖਔᕖૺᄃహّႣ΍୵۞ෛშቯঽតĄீ༗۞ঽ߲ૈዳ‫ܜ݋‬΍˞
ৃঽ߲ĄЯࠎҒ৵ε༰াᄃಏ৷
ৃঽ߲ຏߖ۞ঽ඀‫׶‬఍ந͞ёၟ൒̙ТĂԧࣇ‫ޙ‬ᛉ఺‫׌‬
჌়ঽᅮࢋЕˢາϠ‫ڽͪ׊‬ঽ۞ᝥҾ෧ᕝĄ(̚රϩᄫ21 : 293 - 297, 2003)
From the Department of Dermatology, Chung Shan Medical University Hospital
Accepted for publication: March, 28, 2003
Reprint requests: Department of Dermatology, Hsin-chieh Tang, M.D., No. 110, Sec. 1, Jianguo N. Rd., Taichung, Taiwan
TEL: 886-4-24739595 ext. 2338
293
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INTRODUCTION
Incontinentia pigmenti (IP) is an X-linked
dominantly inherited disease with characteristic
skin lesions and stages. Females are mainly
affected, and males who got the abnormal gene
are usually lethal.1, 2
Linear rows of vesicles over erythematous
bases mainly on the extremities and occasionally on the trunk are the typical cutaneous lesions
of the first stage of IP. But the clinical lesions
share the same features with herpetic vesicles.
Because neonatal herpes simplex virus ( HSV )
infection has the prevalence of 1 in 2000 live
births, and it may produce severe complications
that complicate the management of infants with
IP, we should keep in mind that the possibility
of these two diseases may occur in the same
patient.3, 4, 5, 6
CASE REPORT
The twins were female newborns born by
vaginal delivery to a gravida 4 para 4 ( G4P4 )
mother without abortion history. The mother did
not receive any prenatal screens, and she denied
any congenital disease or sexual transmitted
disease.
Generalized vesicular eruptions over the
trunk and limbs of the twins were present at
birth. Physical examination revealed that some
rice-grain to bean-sized vesicles lying over erythematous bases appeared in a linear distribution on the trunk and limbs (Fig. 1A). The face
and neck were not involved. An isolated group
of vesicles was noted at the vertex of the scalp
since the day of 7 and 8 ( twin A and twin B,
respectively ) ( Fig. 2A ). Laboratory data
showed leukocytosis (WBC: 13200 and 14500,
Fig. 1
Fig. 2
(A) Some vesicles lying over erythematous bases
appeared in a linear distribution on the trunk (twin
A). (B) This field revealed eosinophilic spongiosis,
individual necrotic keratinocytes, and infiltration of
eosinophils in the dermis. (H & E, x200)
(A) An isolated group of vesicles was noted at the
vertex of the scalp (twin A). (B) This field showed
multinucleated giant cells and balloon cells around
the keratinocytes. (H & E, x400)
Dermatol Sinica, September 2003
294
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respectively ) and eosinophilia ( Eosinophils
count: 24 % and 25 %, respectively ). Maternal
herpes antibody IgM was positive but IgG was
negative. The newborns' herpes antibody IgM
and IgG were negative. Pathologic examination
of skin biopsy from the vesicles located on the
trunk and legs of the twins revealed eosinophilic spongiosis. Individual necrotic keratinocytes were present within the epidermis.
Besides, eosinophils also infiltrate in the dermis ( Fig. 1B ). These pathologic findings were
consistent with first stage IP. Pathologic examination of skin biopsy from the vesicles located
on the scalp of the twins revealed multinucleated giant cells and balloon cells around the keratinocytes (Fig. 2B). Ophtholmologic examination of the twin B demonstrated retinopathy
which consisted of venous engorgement and
soft exudates on the retina. Results of bacterial
culture from the vesicles located on the scalp,
trunk and legs were negative. Tzanck smear
from the vesicles located on the trunk, limbs
and scalp showed different results. The results
of scrapings taken from the trunk and limbs
were negative; but from the scalp, we found
multinucleated giant cells. Viral culture and
monoclonal antibody immunofluorescene
proved that there was HSV, type II infection.
Viral cultures of the eyes of the twin A were
positive for herpes virus. Viral cultures of
nasopharynx and cerebrospinal fluid were negative. Except the ocular problems, the twins did
not have any other systemic complications such
as seizures, encephalitis or skeletal anomalies.
Chromosomal studies of the twins showed the
normal karyotype 46, XX and no translocation
or other chromosome aberration.
Our diagnosis was first stage IP and concurrent neonatal HSV infection. To prevent disseminated HSV infection, they received intravenous and topical acyclovir treatment. When
the condition of the female twins became stable,
they were discharged and followed up regularly
at our hospital.
295
DISCUSSION
The diagnosis of an inherited cutaneous
condition does not exclude the possibility of a
coexistence infection and, given the similar
clinical presentation of neonatal vesicular eruptions, accurate diagnosis may require skin biopsy and culture. There have been two published
articles that reported incontinentia pigmenti and
concurrent neonatal herpes simplex virus infection.5, 6
Incontinentia pigmenti ( IP ) is a rare Xlinked dominantly genetic disease with characteristic skin manifestations. This disorder has
four stages.7 The first (erythema and vesicular)
stage is either present at birth or starts shortly
thereafter. It is characterized by linear vesicular
eruptions primarily on the extremities and occasionally on the trunk. IP is associated with several abnormalies in the systems such as central
nervous system, eyes and teeth.7 Ocular abnormalities occur in about 35 % of patients and
consist of proliferative vitreoretinopathy, retinal
detachment, strabismus, cataract, microphthalmia, and optic nerve atrophy.8 Although our
chromosomal studies of the twins showed the
normal karyotype and no translocation or other
chromosome aberration, we did not exclude the
possibility of genetic disorder. Several articles
about genetic studies discovered an IP locus at
Xq28 which was mapped on the basis of findings from cytogenetic and linkage analysis.
Newest genetic studies have demonstrated that
mutations in a single gene result in the IP phenotype.9-13
While IP is a rare disease, neonatal herpes
simplex virus ( HSV ) infection may affect 1 in
2000 deliveries. HSV infection of the newborns
is usually related to maternal asymptomatic first
episode infection in the birth canal during late
pregnancy. 3 Any area of the skin may be
involved, but the grouped vesicles are most
commonly present on the scalp or buttock.
Monitoring electrodes may produce sufficient
skin trauma through which the virus can invade.
On rare instance, neonatal HSV lesions may
display a linear distribution. Vesicles rarely
present at birth. The incubation period of
Dermatol Sinica, September 2003
ّ̃ᗕࡪࡩ۞Ғ৵ε༰াЪ‫׀‬າϠ‫׊‬ಏ৷
neonatal herpes is 2 to 21 days and the mean
age of onset is 6 days. Eighty percent neonatal
infections are HSV-2.3, 4, 14 Neonatal HSV infections are frequently limited to skin, eyes and
mucous membranes, but disseminated infection
which invades the central nervous system with
severe neurodevelopmental sequelae or death
can occur.4 The ocular manifestations of herpes
infection consist of anterior uveitis and keratitis.15, 16 The majority of these infected newborns
present with nonspecific symptoms and signs,
such as irritability, lethargy, fever, or failure to
feed. Until the disease is far advanced, the diagnosis of neonatal herpes is often ignored. So we
should keep in mind that concurrent HSV infection would be in the differential diagnosis of the
neonatal blistering diseases because it may
complicate the management of infants with IP.5, 6
There have been two published articles
about newborns with IP and concurrent neonatal HSV infection.5, 6 In our cases, maternal first
episode genital herpes in the late pregnancy led
to neonatal HSV infection during labor and
delivery. Because maternal HSV seroconversion
had not been completed by the time of labor, the
newborns did not have the protective antibody
against HSV invasion. As mentioned to the ocular complications, the cause of retinopathy was
a manifestation of IP - associated anomalies.
Although viral cultures of the eyes were positive for herpes virus, no residual neurologic or
ocular complications have been detected after
preventive intravenous and topical acyclovir
treatment. Because the course and management
of IP and HSV infection is quite different, we
suggest that both of the diseases need to be considered in the differential diagnosis of neonatal
blistering disorders.
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2. Sybert VP. Principles of genetics in the
molecular era: a primer for dermatologists.
Arch Dermatol 129: 1409-1416, 1993.
3. Brown ZA, Benedetti J, Ashley R, et al.:
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