Discussion
The first description of Adams-Oliver syndrome, in 1945, was attributed
to Forrest Adams and Peter Oliver who gave it their names; described 8
members of one family (1). It’s a rare congenital disorder
characterized by a polymalformative syndrome. Its incidence is estimated
at 0.44 per 100,000 live births (8). It appears to be more common in
women (1,4,5). Adam-Oliver syndrome combines congenital skin
aplasia (aplasia cutis congenital) with distal limb anomalies. This
syndrome corresponds to type 2 of Frieden’s classification (Appendix 1)
(12). Limb malformations are the important anomalies in ODS,
with an estimated prevalence of 85%(13). The most frequently
described anomalies are nail hypoplasia or anonychia, brachydactyly,
polydactyly, syndactyly, and sometimes pseudo-amputation, with the
absence of fingers or toes, or even complete absence of hand or foot in
extreme forms(2). Cutaneous aplasia is the second most frequent anomaly,
observed in 75 to 85% of cases(2,12). It most often affects the vertex
in the parietal region, and more rarely the abdomen and limbs. In 64%
of patients with vertex involvement, a bony defect of the underlying
skull is found (4,10,14). The specific etiologies of congenital skin
aplasia are not elucidated, but chromosomal abnormalities, particularly
BMS1, intrauterine infections, and teratogenic agents during pregnancy
are possible causes(4). Our case presented major criteria for ODS,
namely skin aplasia at the vertex with bone defect and distal limb
anomalies. Prenatal complications such as intrauterine growth
retardation, oligohydramnios, or hydramnios are reported in less than
10% of cases(7,10,15). In our case, severe intrauterine growth
restriction was noted. In the absence of other obvious etiologies, such
as placental or chromosomal, it was thought to be of vascular origin.
Cutis marmorata telangiectasia congenital (CMTC) is described in 20-25%
of reported cases of SAO(2,15). It is characterized by dilation
of the veins and capillaries of the cutaneous and subcutaneous tissue,
anastomosing into networks giving a reticulated (or marbled) appearance.
Bluish venous vessels may be visible through transparency, and skin
ulcerations and atrophied areas may be noted in places. CMTC may be
diffuse over the whole body, including the scalp, or limited to one
area. Lesions may remain stable or regress over time(2,12,14).It was absent in our case. Cardiac malformations occur at a frequency of
23% and can account for the full severity of the disease (15). The
anomalies observed are left-sided obstructive heart disease,
interventricular or interatrial communications, pulmonary arterial
hypertension, and pulmonary venous stenosis (4,16). In our
case, no congenital heart disease was identified on cardiac ultrasound.
Central nervous system malformations occur with a frequency of 30% and
can also determine prognosis. A wide variety of anomalies have been
described, including polymicrogyria, microcephaly, cortical dysplasia,
hydrocephalus with subthalamic and periventricular calcifications,
cerebellar hypoplasia, and agenesis of the corpus
callosum(4,17–19). Other less frequent anomalies have also
been described, such as genitourinary, ophthalmic, and intestinal
anomalies (4,15). Our patient had no central nervous system
anomalies, as no abnormalities were detected either on neurological
examination or on the transfontanellar ultrasound performed. Several
genes (ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4) have been
identified as linked to this syndrome, but without genotype-phenotype
correlation(5,10,11). The pathophysiological mechanism is not well
elucidated. Because of the various abnormalities observed, the vascular
origin remains the most likely hypothesis, with the main mechanism being
an in-utero thrombotic event causing early interruption of blood
perfusion to the various affected areas(2). In the absence of a
molecular biology and genetics department at the CHUK, no gene was
identified in our patient. Autosomal dominant (20) and recessive (8,21)
modes of inheritance have been reported, as have sporadic cases
(7,9). In the absence of family history and molecular studies,
the mode of transmission cannot be determined in our case. Management is
multidisciplinary (13) ; there is no univocal management in the
initial phase, as it depends on the type of congenital cutaneous aplasia
(CCA). In particular, the presence of any associated abnormalities, such
as a cardiac anomaly, must be taken into account, as these will affect
the prognosis. In the case of ACC of the epidermis vertex with bone
aplasia, surgical management is deferred(12). Constriction
grooves are treated surgically with Z-plastics; multiple amniotic
syndactylies, which are responsible for major functional limitations,
require early treatment before any skeletal deformity occurs. The use of
skin grafts, in addition to local skin plasty, is decided on a
case-by-case basis. Amniotic amputations require few corrective
procedures. Functional prostheses are of little use(22).Scarring alopecia of the vertex had not been corrected, awaiting the
neurosurgeon’s assessment, let alone the orthopedic burden.