ARTICLE
Auteur(s) : Stefano Maccario, Valeria
Fasolato, Alberto Brunelli, Stefano Martinelli
Division of Neonatology and Neonatal Intensive Care
Unit, S.C. Neonatologia e Terapia Intensiva Neonatale, A.O.
Ospedale Niguarda “Ca’ Granda”, P.zza Ospedale Maggiore 3, 20162
Milano, Italy
accepté le 25 Février 2009
First described by Cordon in 1767 [1], aplasia cutis congenita
(ACC) is a congenital defect of the skin characterized by the
absence of part of the epidermis, dermis and subcutaneous fat.
In most cases the scalp is involved by a solitary lesion, but
there can be an extreme variability and face, trunk and extremities
can also be affected.
A solitary or multiple, sharply demarcated, weeping or
granulating, round or stellate defect, ranging over 3 cm in
diameter, is the classical ACC stigma. Little is understood about
the pathophysiology of this disorder: most cases appear to be
sporadic, even if sometimes familial factors are evident [2]. When
linear lesions with a symmetrical pattern of distribution are
localized on the trunk or limbs, vascular abnormality of the
placenta has been proposed as a possible cause [3]. These cutaneous
defects are usually associated with in utero death of a monozygotic
twin during pregnancy, with or without the presence of a fetus
papyraceus at delivery, the so-called vanishing twin syndrome. In
1986 Frieden IJ conducted a clinical review and proposed a
classification of ACC showing a variety of potential associations
including infections, malformations, epidermal nevi, genetic
syndromes and teratogens [4]. We report the case and follow up of a
child affected by large lesions of ACC localized on the trunk and
limbs, after a multifetal pregnancy in which one twin was aborted
at 11 weeks of gestation.
Case report
A girl weighing 2915 g was born at 39 + 5 weeks of gestation by
spontaneous vaginal delivery from non-consanguineous parents. She
was referred to us for the presence of widespread congenital skin
defects. The 37 year old mother, HCV, HBsAg and CMV negative, had
no history for morbidities, infections like herpes simplex or
varicella-zoster, and intake of medications such as methimazole.
Family history was negative for ACC in other relatives. Obstetric
and ultrasonograph studies performed during pregnancy showed the
death of one of two fetuses at 11 weeks of gestation. The dead
fetus was then expelled during delivery as a fetus papyraceus along
with a normal placenta. Apgar score was 9 and 9 at 1 and 5 minutes.
Examination at birth disclosed a well-demarcated, geographic, deep
skin defect measuring 14 × 20 cm over the back, from the lower
margin of shoulder blades to the flanks and hips. The thighs were
also involved: the right lesion measured 5 × 2 cm, the left
one 6 × 3 cm (figure 1). At the
following clinical examination, no single umbilical artery, nail
dystrophy, clubbed hands and feet or amniotic bands were found.
Neurological evaluation was normal. Thus a diagnosis of ACC group
5, according to Frieden’s classification [1], was made. She was
admitted into our neonatal intensive care unit with spontaneous
breathing and placed in an incubator with 95% humidity and 21%
oxygen, and always handled by sterile devices.
During the first day of life she started: parenteral nutrition
to prevent dehydration and electrolyte imbalance, fentanyl, in
order to manage pain, and antibiotic prophylaxis with gentamicin
and ampicillin. Plastic surgery consultation was requested to plan
interventions and therapy. The skin was firstly disinfected with a
0.5% chlorhexidine solution, and then treated with products
enriched with a high concentration of vitamin E and antibacterial
agents. Sterile bandages bathed in warm saline were used to cover
the lesions. On the seventh day after hospitalization the clinical
condition worsened with episodes of apnea and bradycardia.
Mechanical ventilation was provided for three days in order to
support the baby. Blood analysis showed leukocytosis with
neutrophil granulocyte prevalence and raised C-reactive protein.
With the suspicion of Gram plus infection, ampicillin was changed
to vancomycin and amphotericin B was added as an antifungal
prophylaxis. The day after, a laboratory blood culture revealed
sepsis sustained by Klebsiella pneumonia and following an
antibiogram, she was put on amikacin. Sepsis resolved in 10 days
and she could undergo autologous split thickness skin autografts to
resurface part of the defect. After 2 months of hospitalization the
baby was discharged in good clinical condition. In the 2 year
follow up the child was referred to plastic surgeons,
physiotherapists and pediatricians. The mother was advised to use a
rich base cream every day and plastic surgeons advised the use of
skin expanders in later years in order to obtain a reduction of the
scars (figure
2).
Discussion
The disappearance of one or more fetuses during a multifetal
gestation is known as vanishing twin syndrome. Conditions
associated to this syndrome can be the complete reabsorption of the
dead fetus, the formation of a fetus papyraceus, as happened in our
case, or the development of a subtle abnormality on the placenta
such as a cyst, subchorionic fibrin, or amorphous material [5]. The
timing of this event is extremely important in order to predict the
outcome of the viable twin and the maternal complications. It is
normally believed that, if the event occurs during the first
trimester, the remaining fetus should have mild to moderate
untoward effects. However, if the event occurs during the second
half of pregnancy, the fetus could develop cerebral palsy or
extensive aplasia cutis [6]. Our case was quite unique because the
abortion of the first fetus occurred at 11 weeks of gestation.
Although the risk was considered low, the event occurred at the
border between the first and the second trimester, making the
newborn show wide, instead of linear, skin lesions. The
intrauterine death of one of the twins should cause the release of
thrombosis-promoting material from the dead fetus, causing
extensive placental infarctions, disseminated intravascular
coagulation, or direct fetal injuries [7]. Our pathology department
reported that the placenta could be considered normal and well
developed. So, we can speculate that ACC lesions were caused by
direct insults promoted by the dead fetus. In other cases, trauma,
infections like herpes simplex or chicken pox, medications such as
antithyroid drugs or valproic acid, amniotic membranes or vascular
anomalies have also been proposed as a likely etiology for ACC
[8-10].
Treatment of the defects found in ACC is controversial. In 1990,
Wexler et al. [11] concluded that conservative treatment with
antibacterial prophylaxis (silver sulfadiazine, polymyxin B
sulfate, or bacitracin zinc) and appropriate dressings allowed
spontaneous wound epithelialization. In our case, the involvement
of such a wide section of the body was likely to have resulted in a
severe sepsis sustained by Klebsiella pneumonia, even if sterile
devices were used to manipulate the infant, and first course
antibiotics was undertaken. Another important issue to take into
consideration is the risk of developing severe metabolic sequelae,
such as electrolyte imbalance or hypoalbuminemia [12]. It was,
therefore, crucial that we paid close attention to fluid therapy,
especially in the first days of life. Initially, surgical treatment
is not recommended [13], but it was necessary in our case because
of the failure of conservative treatment. Early split-thickness
skin grafting or full-thickness pedicle grafts may reduce the size
of the lesion and allow it to be treated conservatively until a
later age, when tissue-expanded local flaps or free flaps may be
used. Surgical intervention may also be useful later in life for
revision of scars. The risk of having profound and wide skin
lesions is proportional to the trimester in which the aborted twin
died [5].
In our experience, there are cases, as we described here, in
which this association seems to fail, but a precise history can be
useful in order to understand the etiology of this disorder. We
also believe that a multidisciplinary approach involving
neonatologists, obstetricians, dermatologists, plastic surgeons,
physiotherapists and psychologists, is mandatory to help both
patients and their families to cope with such an unpredictable
disease as ACC.
Acknowledgements
Conflicts of interest: none. Financial support: none.
References
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