Skip to main content
eScholarship
Open Access Publications from the University of California

Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings

  • Author(s): Rajabian, Mohammad Hossain
  • Aghaei, Shahin
  • et al.
Main Content

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


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).



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 2Figure 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

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

2. Orstavik KH, Stromme P, Spetalen S, Flage T, Westvik J, Vesterhus P, Skjeldal O. Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? Am J Med Genet 1995; 59: 92-5.

3. Tekin M, Bodurtha J, Ciftci E, Arsan S. Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. Am J Med Genet 1999: 86 (1): 90Ð91.

4. Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet 1994: 49 (4): 393Ð396.

5. Kuster W, Lenz W, Kaariainen H, Majewski F. Congenital scalp defects with limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31: 99-116.

6. Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E. Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? Am J Med Genet A 2005: 135 (2): 186Ð189.

7. Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet 1988: 29 (2): 269Ð276.

8. Patel MS, Taylor GP, Bharya S et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet A 2004: 129 (3): 294Ð299.

9. Ishikiriyama S, Kaou B, Udagawa A, Niwa K. Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. Am J Med Genet 1992: 43 (5): 900Ð901.

10. Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? Am J Med Genet A 2004: 130 (2): 172Ð175.

11. Jun SY, Khang SK, Park SH. An autopsy case of Adams-Oliver syndrome. J Korean Med Sci 2000; 15: 482-4.

12. Sybert VP. Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol 1985; 3: 11-4.

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.

© 2006 Dermatology Online Journal