Adams–Oliver syndrome: About a case

Key Clinical Message

We report the case of a newborn with aplasia cutis congenita characterized by the absence of skin in the left parietal region, superficial dilatation of the scalp veins, facial dysmorphia, limb anomalies, and severe intrauterine growth retardation. Maternal milk enabled the baby to gain weight, and dermatological treatment was performed for scarring of the vertex. Psychomotor development and stature were spectacular. This case illustrates the clinical variability of this condition and the need for multidisciplinary management.

1. INTRODUCTION

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb anomalies. ¹ The lesions of ACC are generally located on the midline of the parietal or occipital regions, where they may be associated with a parietal bone defect, but may also appear on the abdomen or limbs. ¹ , ² , ³ First described by Adams and Oliver in 1945, this syndrome also presents severe forms of expression, including central nervous system anomalies, cardiovascular disease, and gastrointestinal malformations. ¹ , ⁴ , ⁵ , ⁶ Several modes of transmission have been described: autosomal dominant, autosomal recessive, and sporadic mutations. ⁷ , ⁸ , ⁹ Six genes responsible for Adams–Oliver syndrome have been identified, including ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT. ⁵ , ¹⁰ , ¹¹ We report the case of a term newborn with severe intrauterine growth retardation (IUGR) presenting with typical signs of Adams–Oliver syndrome without associated visceral complications. This syndrome remains rare and poorly described in the scientific literature in Burundi.

2. CASE HISTORY/EXAMINATION

A male newborn was born by vaginal delivery at 40 weeks in the maternity ward of the district hospital (MURAMVYA), with severe intrauterine growth restriction in a polymalformative setting, then transferred the following day to the neonatology unit of the Kamenge University Hospital (CHUK) for better management. The multiparous woman was 34 years old and denied any toxic exposures or any illness during pregnancy and family history of the syndrome. The father is 41 years old and a farmer. The parents denied any prior family hereditary anomalies. She had attended two prenatal consultations; all the biological tests carried out revealed no particularities. Two obstetrical ultrasounds had been performed, but no antenatal anomalies were detected. The newborn was the fifth of five apparently healthy siblings. They all come from a non‐consanguineous couple. On initial assessment in the delivery room, the newborn had a good Apgar and was respiratory and hemodynamically stable. On admission to the CHUK neonatal unit, evaluation of anthropometric parameters revealed a low weight of 1500 grams (< ‐3DS), a short stature of 37 cm (< ‐3DS), and microcephaly with a head circumference of 28 cm (< ‐3DS).

Physical examination of the head revealed normotensive, pulsatile fontanelles, and a 5 × 5 cm of ACC in the left parietal region, associated with superficial dilatation of the scalp veins (Figure 1A). Hypertelorism and facial dysmorphia were noted. Examination of the limbs revealed brachydactyly associated with hypoplasia of all fingers except the thumb and index finger of the right hand (Figure 2A); the thumb and small finger of the left hand (Figure 2B). In the right foot, amniotic amputation of the large toe with nail agenesis was also observed (Figure 2C). In the left foot, we observed nail agenesis, syndactyly amputation of the large and third toes with clinodactyly of the second toe. (Figure 2D). Cardiovascular, pulmonary, and neurological examinations were within normal limits.

FIGURE 1.

(A) Left parietal aplasia cutis congenita. (B) Complete healing of the parietal aplasia cutis congenita. (C) Left parietal bone defect through which cerebral contents herniate.

FIGURE 2.

(A) Amniotic amputation of the ring finger and small finger with brachydactyly of the middle finger. (B) Amniotic amputation of the index and middle fingers with brachydactyly of the ring finger. (C) Total nail agenesis and short big toe. (D) Amniotic amputation‐syndactyly of the big toe and 3rd toe with clinodactyly of the 2nd toe associated with nail agenesis.

3. METHODS (INVESTIGATIONS AND TREATMENT)

Paraclinical examinations were carried out, including transfontanellar and abdominal ultrasound, with no abnormalities noted, and X‐rays of the limbs, which confirmed the abovementioned abnormalities (Figure 3A–D). Medication with antibiotics and nutrition with maternal milk had been started, and local care of the ACC with isotonic saline (NaCl 0.9%) was applied; as for the limb abnormalities, no treatment was initiated.

FIGURE 3.

(A) Right hand: Complete agenesis of the middle and distal phalanges of the middle finger, proximal brachyphalangia with complete agenesis of the middle and distal phalanges of the ring and little fingers. (B) Left hand: Complete agenesis of the middle and distal phalanges of the index and middle fingers, complete agenesis of the middle and distal phalanges of the ring finger. (C) Right foot: Brachy‐basophalangea and complete agenesis of the distal phalanx of the great toe, agenesis of the middle and distal phalanges of the other toes. (D) Left foot: proximal brachyphalangia with complete agenesis of the distal phalanx of the big toe, proximal brachy‐clinophalangia with complete agenesis of the middle and distal phalanges of all toes.

4. CONCLUSION AND RESULTS (OUTCOME AND FOLLOW‐UP)

After 4 weeks of hospitalization in neonatology, we observed that the scalp ulceration was healing, and he was gaining weight (2500 g). He was discharged with follow‐up appointments at 3, 6, 9, and 12 months of age, to assess his weight‐for‐height and the healing of the ACC. At 4 months of age, the evolution was marked by a staturo‐ponderal gain, respectively, 57 cm and 5 kg (P/T − 1.0 DS), microcephaly with a head circumference of 38 cm (< − 2 DS), and good skin healing on the left parietal level, leaving a circumscribed area of alopecia exposed (Figure 1B). His psychomotor progress was good. Ultrasound examination of the area of alopecia revealed a bone defect on the left parietal bone measuring 4.66 cm in diameter (Figure 1C). At 10 months of age, there was still no staturo‐weight gain (weight 6.5 kg, height 65 cm with P/T − 1.5, and − 1 DS) and microcephaly with a head circumference at 42 cm (−3, −2 DS). Psychomotor development was good, and an appointment was scheduled with the neurosurgeon for possible skin expansion and cranioplasty. Adams–Oliver syndrome remains a complex, rare congenital disorder, with very little documented in the scientific literature. It is essentially autosomal dominant, but recessive and sporadic modes have also been reported. This multisystem pathology, requiring regular follow‐up, affects the quality of life and can be fatal if internal organs are affected. This syndrome requires a continuous and comprehensive multidisciplinary approach, from birth until the best medical, social, and psychological conditions are obtained.

5. DISCUSSION

Adams–Oliver syndrome is a rare congenital disorder characterized by a polymalformative syndrome and combines congenital skin aplasia (ACC) with distal limb anomalies. Its incidence is estimated at 0.44 per 100,000 live births. ⁸ This syndrome corresponds to type 2 of Frieden's classification (Figure 4). ¹² Limb malformations are the important anomalies in AOS, with an estimated prevalence of 85%. ¹³ 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 ACC 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 AOS, 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. ³ , ⁷ , ¹⁰ In our case, severe intrauterine growth retardation was noted. In the absence of other obvious etiologies associated with the adnexa, it was thought to be genetic or chromosomal in origin. Cutis marmorata telangiectasia congenita (CMTC) is described in 20%–25% of reported cases of AOS. ² , ³ 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. Cutis marmorata telangiectasia congenita 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. ³ The anomalies observed are left‐sided obstructive heart disease, interventricular or interatrial communications, pulmonary arterial hypertension, and pulmonary venous stenosis. ⁴ , ¹⁵ 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 , ¹⁶ , ¹⁷ , ¹⁸ Other less frequent anomalies have also been described, such as genitourinary, ophthalmic, and intestinal anomalies. ³ , ⁴ 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 ¹⁹ and recessive ⁸ , ²⁰ 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 ACC. 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. ²¹ Scarring alopecia of the vertex had not been corrected, awaiting the neurosurgeon's assessment, let alone the orthopedic burden.

FIGURE 4.

Frieden classification.

AUTHOR CONTRIBUTIONS

John Mambo Itongwa: Writing – original draft. Moise Mbaluku Colombe: Writing – original draft. Helene Bukuru: Writing – review and editing. Niyongeko Deogratias: Writing – review and editing. Cédric Irenge Matabaro: Writing – original draft. Fernand Manga Opondjo: Writing – review and editing. Viviane Feza Bianga: Writing – review and editing. Ndayishimye Alice: Supervision.

FUNDING INFORMATION

None.

CONFLICT OF INTEREST STATEMENT

The authors declare any conflicts of interest.

CONSENT

Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.

Itongwa JM, Colombe MM, Bukuru H, et al. Adams–Oliver syndrome: About a case. Clin Case Rep. 2024;12:e8685. doi: 10.1002/ccr3.8685

DATA AVAILABILITY STATEMENT

The corresponding author's data supporting this study's findings are available upon reasonable request.