ARTICLE
Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized
by a local defect of epidermis, dermis, and subcutaneous
tissues. ACC may be located at any site of the body, but occurs predominantly
on the vertex of the scalp. In approximately 20% of the cases a bone defect
is found [9]. ACC may also be part of various multisystem birth defects
[20]. Most cases are sporadic [2, 12, 14, 31, 35]. However some familial
cases have been reported [12, 16, 21, 22, 33]. We report on a sister and
her brother with ACC and describe the treatment of these skin lesions.
Case report
Patient A (a boy) was presented at the age of three years. At
birth a parietoocccipital 4 x 4 cm scalp defect was seen. Perinatal trauma
was excluded. Under conservative treatment healing with scar formation
occurred within a few months. Neither an underlying bone defect nor an
associated abnormality was seen. His physical and psychomotor development
was normal. At a follow-up examination performed at the age of three years
the patient showed a cicatricial alopecia of 5 cm in diameter in the parietooccipital
region (Fig.1).
Patient B was a 1-year-old sister of patient A. She was likewise
born at term following normal pregnancy and delivery. Two 1.5 x 1.5 cm
midline parietal scalp defects were noted at birth. A bone defect could
be excluded. Neither physical nor psychomotor retardation nor any associated
anomaly were found in this case (Fig.3).
Family history of similar skin defects was negative. Both parents have
been carefully examined and did not show any skin or bone defects nor
any physical or psychomotor retardation. There was no consanguinity. Two
younger brothers were born who did not show any scalp defects or other
anomalies.
Treatment
Patient A: The defect was treated by serial excisions (Fig.2).
Patient B: The defects were treated by a simple excision (Fig.4).
Histopathological examination: The surface of the lesion showed
a thin, but completely normal, orthokeratotic epithelial layer. In the
corium a tense fibrous tissue, absence of skin appendages except for few
residual abnormal hairfollicles was seen (Fig.5).
Discussion
Congenital aplasia of the skin is an uncommon disorder although more
than 500 cases have been reported [9] since the initial description in
1767 by Cordon [8]. The estimated incidence is 1/10,000 births.
ACC can occur at any site of the body, but it is found most commonly
on the scalp in the midline of the vertex, accounting for over 80% of
solitary lesions [2, 5]. The lesions are mainly circular, but may be oval,
linear or diamond-shaped or even show a stellate configuration. They may
involve all layers of the skin and sometimes even the bone [19]. In those
cases there is a high rate of complications such as wound infection, biochemical
abnormalities, and fetal hemorrhage. The management of ACC-lesions (conservative
versus surgical) is controversial, since there is no large experience
regarding the outcome of the treatment strategies [7, 27, 29, 30, 32].
Most cases of ACC appear sporadically. There is no unifying theory of
the pathogenesis in ACC. It can be regarded as a birth mark due to disruption
of the skin development in utero [4]. Traumatic, vascular, teratogenic
(e.g. methamizole) [3], and genetic factors are discussed as initial
steps in the pathogenesis. Familial case reports suggested either an autosomal
dominant or recessive inheritance with variable expression [18, 28]. Fimiane
et al. performed clinical and formal genetic analysis in a three
generation pedigree with seven individuals affected by ACC, suggesting
an autosomal dominant trait [39]. Maman et al. postulated that
the condition is caused by an autosomal recessive gene affecting the integrity
of the basement membrane and hemidesmosomes [40].
Many associated anomalies have been described such as encephalocele,
meningocele, heterotopic brain tissue as well as keratoconus, nystagmus,
atrophic pigment epithelium, cone-rod dysfunction, pronounced myopia,
cleft lip and palate, tracheo-esophageal fistula, congenital heart defects,
polycystic kidney, mental retardation, and limb defects. Other authors
described ocular colobomata and white rings of the cornea [6, 10, 11,
13, 20, 25, 34, 37]. Among these multisystem birth defects, the Adams-Oliver
syndrome is most common. Peripheral limb anomalies and ACC are major components
of this syndrome that is usually inherited as an autosomal dominant trait
[1, 15, 23, 24, 36]. ACC is also part of several other syndromes such
as Johansson-Blizzard syndrome, Schimmelpenning-Feuerstein-Mims syndrome,
Goltz syndrome, and chromosomal anomalies (Wolf syndrome, Pätau syndrome)
among others.
The classification is based on the clinical features. The extent of
the disease on the scalp or on other body regions and the occurrence of
associated abnormalities are important for classifying. Frieden et
al. [14] proposed classifying the disorder into nine, Küster
and Traupe [4] into six clinical subgroups.
Our two patients presented ACC in typical location on the scalp without
associated malformation. There was no hint of consaguinity of the parents.
Both children were born at term after a normal pregnancy and delivery.
Therefore a genetic defect seems to be most likely to cause ACC in these
two siblings. The occurrence in two chidren of either sex in the absence
of any disorder in their parents may suggest an autosomal recessive inheritance.
However, autosomal dominant inheritance with germline mosaicism in one
parent can not be excluded.
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