Dermatology Online Journal

Adams-Oliver syndrome and isolated aplasia cutis congenita in two sibs
Mohammad Hossain Rajabian MD¹, Shahin Aghaei MD²
Dermatology Online Journal 12 (6): 17

1. Department of Plastic Surgery, Shiraz University of Medical Sciences, Shiraz, Iran
2. Department of Dermatology, Jahrom Medical School, Jahrom, Iran. shahinaghaei@yahoo.com

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Abstract

Adams-Oliver syndrome is a rare congenital anomaly complex characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. We present a 9-year-old girl with a large, congenital scalp defect on her vertex, without underlying bone defect. Brachydactyly and syndactylia of her toes were also evident. Her 13-year-older brother had an 8 × 5 cm scalp defect without any limb defects (isolated ACC).

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Clinical synopsis

Figure 1
Aplasia cutis congenita on the scalp of our patient

We present a 9-year-old girl with a large, congenital scalp defect (16 × 8 cm) on her vertex area, and aplasia cutis congenita (ACC) without underlying bone defect (Fig. 1). Brachydactyly and 2-3 syndactylia of her toes, more prominent in right foot, were present (Fig. 2). On clinical examination, her hands were normal. Evaluation of heart and kidneys by echocardiography and ultrasound, respectively, showed no pathological findings. There was no developmental delay and neurological examination was normal. Clinically, her abnormal features are consistent with Adams-Oliver syndrome (AOS). Her 13-year-older brother had an 8 × 5 cm scalp defect without any limb defects (Fig. 3). We did not find cutis marmorata telangiectatica in any family members and there were no reports of cardiac problems.

Figure 2	Figure 3
Figure 2. Brachydactyly and 2/3 syndactylia in toes of the index patient Figure 3. Isolated ACC on the scalp of patient's older brother

Reconstruction of the scalp defect was postponed to be done simultaneously with her brother at the ages of 11 and 13, respectively. Excision of the area of scar and alopecia with complete resurfacing by a unilateral temporoparietal scalp flap were performed after tissue expansion using a crescent-shaped 500 cc and a rectangular 300 cc tissue expander, respectively.

Discussion

Adams-Oliver syndrome is a rare congenital anomaly complex characterized by scalp ACC, terminal transverse limb defects, and cutis marmorata telangiectatica of skin [1, 2].

Adams-Oliver syndrome was first described in 1945. Since then more than 60 affected individuals have been reported in the literature. It is usually inherited as an autosomal dominant trait but autosomal recessive inheritance has been suggested in some families [3]. In some families, lack of penetrance has been noted [4]. This syndrome is comprised of a defect of the terminal phalanges of fingers and toes, aplasia cutis of scalp, and cutis marmorata telangiectatica of skin. The scalp lesions reveal thin atrophic skin or deeper lesions that extend from the skin through the skull to the dura, ranging from 0.5 to 10 cm in diameter [5]. A skin defect was not identified in our cases. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed [6]. Other associated anomalies include vascular defects (cutis marmorata [7], dilated scalp veins [8]), cardiovascular malformations [9], brain abnormalities [10], cryptorchidism, esotropia, accessory nipples, microphthalmia, duplicated collecting system, and cleft lip [11], which were not recognized in our case.

The full spectrum of observed defects ranges from hypoplastic nails, cutaneous syndactyly, bony syndactyly, transverse reduction defects, zygodactyly, ectrodactyly, polydactyly, and brachydactyly [12]. More severe defects include complete absence of a hand or foot, or virtual absence of a limb (hemimelia) [13]. Our case showed asymmetric involvement of syndactyly. The pathogenesis of this syndrome is currently unknown [14], but vascular disruption as the predisposing factor has been postulated [7].

Acknowledgment:The patients' family gave formal permission for publishing their details and photos. The authors thank them.

References

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13. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945: 36 (1): 3Ð8.

14. Fryns JP, Legius E, Demaerel P, van den Berghe H. Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia, and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver syndrome. Clinical Genetics 1996; 50: 505-9.

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