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Adams–Oliver Syndrome: A Rare Congenital
Disorder
Sumara Rashid , Saleha Azeem , Samiha Riaz
1. Dermatology, Fatima Memorial College of Medicine and Dentistry, Lahore, PAK 2. Dermatology, King Edward
Medical University, Lahore, PAK
Corresponding author: Sumara Rashid, dr.sumara@gmail.com
Abstract
We present a case of a two-day-old Asian female infant with typical symptoms of Adams-Oliver syndrome
(AOS): two cutaneous lesions including aplasia cutis congenita (ACC) and hypoplastic phalanges. The lesion
on the abdomen is a relatively rare finding of the syndrome. Skin and skull bone were absent in the anterior
fontanelle region, and hypertrophic labia minora was observed. The patient was put on regular follow-up.
Categories: Dermatology, Pediatrics
Keywords: adams–oliver syndrome, cutaneous lesions, hypoplastic phalanges, hypertrophic labia minora, aplasia
cutis congenita
Introduction
Adams-Oliver syndrome (AOS), a rare congenital disorder, is characterized by congenital scalp defects
(aplasia cutis congenita (ACC)) along with defects of the terminal transverse limbs that may vary in severity
[1]. This disorder was described for the first time in 1945 by Adams and Oliver [2], and since then, several
similar cases have been reported. Although autosomal dominant (AD) inheritance was thought to be the
probable mode of inheritance initially in 1945, subsequent case reports suggest autosomal recessive (AR)
inheritance for this syndrome. Having a family history of the syndrome and being born to parents that are
closely related by blood are both genetic risk factors for AOS. Cutis marmorata telangiectatica congenita, an
added defect, has been associated with 12% of cases of AOS [3]. Congenital defects and vascular heart
anomalies may also be present [4]. The most common limb anomalies are hypoplastic or absent distal
phalanges, but defects range from hypoplastic nails to completely absent hands or lower legs [5]. It is
believed that normal lifespan is not affected if the syndrome does not involve any major organs [6]. The
involvement of internal organs, including the central nervous system, cardiopulmonary system, and
gastrointestinal tract, is usually lethal [5].
AOS is a rare disease and even rarer with lesions on the abdomen, which is why this case is being presented
[7]. Reporting this case, especially with a unique finding, will contribute to the limited relevant literature
that exists and that will lead to an overall better understanding of the syndrome.
Case Presentation
A two-day-old Pakistani female infant weighing 4.6 pounds at birth was born after a full-term pregnancy
through C-section delivery. She was the second of two siblings and the daughter of consanguineous healthy
parents. She was referred to the Dermatology Department at Fatima Memorial Hospital, Lahore, Pakistan, for
the evaluation of two cutaneous lesions on the central line of her abdomen above the umbilicus (Figure 1)
and on the central scalp (Figure 2). A focal defect of scarred atrophic plaque with thin skin was present in
the midline of the vertex area involving the sagittal suture. The lesion was approximately 4 × 3 cm in the
region anterior to the occipital fontanelle. The scarred plaque had a complete absence of hair and a central
hemorrhagic necrotic crust. A small ulcerated area was observed in the immediate surroundings of the crust.
The abdominal skin had a puckered, shiny scar on the central lower abdomen surrounding the umbilicus. It
was a 3 × 3 cm erythematous area with a band-like small hypertrophic scar in its center, but there was no
ulceration. Normal cutaneous blood vessels were visible in the surrounding area.
The mother denied any toxic exposures or any serious illness during pregnancy and any family history of the
syndrome.
1 2 1
Open Access Case
Report DOI: 10.7759/cureus.23297
How to cite this article
Rashid S, Azeem S, Riaz S (March 18, 2022) Adams–Oliver Syndrome: A Rare Congenital Disorder. Cureus 14(3): e23297. DOI
10.7759/cureus.23297
FIGURE 1: Cutaneous lesion above the umbilicus
FIGURE 2: Cutaneous lesion on the central scalp
Due to the presence of hypoplastic phalanges, both in digits and toes, the child was scheduled to undergo a
complete musculoskeletal examination, X-ray of hands and feet, an abdominal ultrasound, an
echocardiogram, and CT scan of the skull in the Department of Pediatrics (Figures 3, 4). Upon physical
examination of the patient, it was revealed that the skin and parts of both parietal bones making the sagittal
suture were absent in the occipital fontanelle region. Additionally, hypertrophic labia minora was observed.
There were no other noticeable symptoms, and the child was healthy. Generalized cutis marmorata was not
2022 Rashid et al. Cureus 14(3): e23297. DOI 10.7759/cureus.23297 2 of 5
observed although it is associated with some cases of AOS. Moro reflex was intact. Suckling after birth and
ophthalmological consultation were normal. The baby was lying in the midline position with a symmetrical
body. Normal limb movements were present with normal tendon reflexes. The facial response to touch was
of normal category. The baby was kept in a newborn nursery for observation and cardiac monitoring. Further
imaging and other investigations were planned, and a topical antibacterial was prescribed for the scalp
hemorrhagic ulcerated lesion. The parents were genetically counseled. Informed consent for the use of
pictures and disease details was obtained from the parents.
FIGURE 3: Hypoplastic phalanges of hands
FIGURE 4: Hypoplastic phalanges of feet
Discussion
Adams-Oliver syndrome has an approximate incidence of one in 225,000 births [4]. It was first picked up and
reported by Adams and Oliver in 1945. They identified eight cases in one family [2]. Since then, cases of
Adams-Oliver syndrome have been reported worldwide with various symptoms.
Cases with autosomal dominant (AD), sporadic, and autosomal recessive (AR) genetics have been identified
2022 Rashid et al. Cureus 14(3): e23297. DOI 10.7759/cureus.23297 3 of 5
[4]. The AD and AR AOS-related genes are ARHGAP31, DLL4, NOTCH1, or RBPJ and DOCK6 or EOGT,
respectively [8]. Genetic predisposition is a speculated factor in the cases identified by Adams and Oliver.
The absence of family history suggests this case to be most likely a sporadic one. However, it does not rule
out its genetic inheritance. This is because parents that are closely related by blood have a greater chance of
carrying the same abnormal gene as opposed to parents who are not. Therefore, a consanguineous marriage,
such as the one in our case, increases the chance of AOS [8].
Terminal transverse limb defects, aplasia cutis congenita (ACC), and positive family history are considered as
major criteria for the diagnosis of AOS [4,9]. Cutis marmorata, congenital heart defects, and vascular
anomaly are considered minor criteria for the diagnosis of the syndrome. To label the diagnosis, two major
criteria or one major and one minor are taken as adequate evidence [4].
Disproportionate limb deformities are the most commonly seen finding in AOS [4], especially involving the
lower limbs [3], and may include hypoplastic fingernails or toenails, syndactyly, polydactyly, or
brachydactyly. Oligodactyly, the complete absence of a finger, toe, limb, or hand, may be observed in severe
cases [5]. Phenotypically, the appearance of the limbs can show varying severity from normal appearance (as
in obligate AOS carriers) to the total absence of hand or foot.
The causes for aplasia cutis congenita may be teratogenic factors (physical, metabolic, infectious, chemical,
or maternal health factors), fetal exposure to drugs such as cocaine and alcohol, or intrauterine infections
[10]. No such history was seen in this case. The only significant part for the entire duration of the pregnancy
was the suggestion of a C-section due to fetal distress exhibited as tachycardia at term. Fetal distress was not
noted at any other stage of pregnancy as indicated by fetal Doppler studies. The lesions, however, were
formed during the beginning of intrauterine life as indicated by the healed scar tissue on birth. Therefore,
fetal distress cannot be a potential cause.
Although the typical site for ACC is scalp vertex, less common sites such as the parietal scalp, trunk (torso),
and limbs can also be involved [11]. On the abdomen, the linear band of hypertrophic scar is confined to a
specific area in the center. This is not expected to lead to abdominal constriction during the growth of the
abdominal wall and musculature as might have happened in case the scar had extended to cover a greater
area. A broad spectrum of intracranial abnormalities has been documented in AOS patients that include
encephalocele, microcephaly, hypoplasia of the left arteria cerebri, medial and right spastic hemiplegia,
cortical dysplasia, pachygyria, hypoplastic corpus callosum, parenchymal calcifications, abnormal cerebral
vasculature, ventriculomegaly, and dysplasia of the cerebral cortex [3]. These could result in secondary
symptoms such as epilepsy and mental retardation. Furthermore, in skin lesions on the scalp associated with
AOS, underlying dilated blood vessels may bleed and lead to hemorrhage [8]. In our case, a necrotic
hemorrhagic crust was seen in the center of the otherwise healed scalp lesion.
Labial abnormalities, as seen in our patient, have not been reported before. There is currently no biological
reason, but it may be associated with a wide clinical spectrum of AOS. The cardiovascular system can also be
affected in the form of obstructive defects in the left heart, valvular anomalies, pulmonary vascular
malformation, and pulmonary hypertension. Other clinical abnormalities that can be seen in such patients
include cutis marmorata telangiectasia congenita, gastrointestinal and hepatic malformations, accessory
nipples, microphthalmia, hereditary hemorrhagic telangiectasia, and cleft lip [3]. Our patient did not show
any of these findings as evident by examination and investigations.
Differential diagnoses can include epidermolysis bullosa, herpes simplex infection, and focal dermal
hypoplasia (Goltz syndrome). The absence of bullous eruptions and the absence of the involvement of sites
of friction sites rule out epidermolysis bullosa. Herpes simplex, although often found on the scalp, is not
associated with limb or abdomen abnormalities. Focal dermal hypoplasia is a multisystem disorder involving
the hair, teeth, glands, and eyes. Although the teeth of a newborn cannot be assessed, hair and eyes can, and
they were normal. CT scan and MRI did not show any abnormalities in internal organs [12]. Aplasia cutis
congenita could be a part of even rarer syndromes.
Although there is no lethal internal organ involvement, meningitis and infections can be potential
complications, so a regular follow-up is essential. Genetic prenatal testing is recommended for future
pregnancies, but it may not be easily accessible in Pakistan. Parents should be genetically counseled as to
the gene for AOS has a 50% (AD inheritance) or a 25% (AR inheritance) chance of being inherited. During
follow-up, a multidisciplinary approach may be required to take care of the associated limb abnormalities,
e.g., plastic surgery for the hypoplastic limb defects or cutis aplasia. Vaginal surgeries for normal structural
restoration may be considered after puberty. Regular follow-up, growth charts, and close monitoring by a
pediatrician should be done. The quality of life may be compromised due to cosmetic disabilities, but in
terms of life expectancy, the patient is expected to live a normal life provided that the necessary milestones
are achieved and the skull bone grows normally without any serious comorbidity.
Conclusions
AOS is a rare multisystem disorder that affects the quality of life and can be lethal if internal organs are
2022 Rashid et al. Cureus 14(3): e23297. DOI 10.7759/cureus.23297 4 of 5
involved. We present a case of AOS with two cutaneous lesions, hypoplastic phalanges, and hypertrophic
labia minora. A regular follow-up, in this case, is required with immediate reporting of infection and
disease. Any complication should be dealt with immediately and accordingly.
Additional Information
Disclosures
Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In
compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services
info: All authors have declared that no financial support was received from any organization for the
submitted work. Financial relationships: All authors have declared that they have no financial
relationships at present or within the previous three years with any organizations that might have an
interest in the submitted work. Other relationships: All authors have declared that there are no other
relationships or activities that could appear to have influenced the submitted work.
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