Indian Journal of Dermatology
: 2014  |  Volume : 59  |  Issue : 5  |  Page : 527--528

Absence of skin over scalp and short digits in a newborn

Namrata Chhabra, Ramandeep Kaur 
 University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India

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Chhabra N, Kaur R. Absence of skin over scalp and short digits in a newborn.Indian J Dermatol 2014;59:527-528

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Chhabra N, Kaur R. Absence of skin over scalp and short digits in a newborn. Indian J Dermatol [serial online] 2014 [cited 2023 Dec 3 ];59:527-528
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A 1-day old female child, delivered at thirty six weeks by normal vaginal delivery at home, was admitted in intensive care unit with respiratory insufficiency and crusted lesion over parieto-occipital region of scalp. She was the third child of non-consanguineous parents. On examination, a 4 cm by 3 cm area of scalp defect with overlying scurfing crusts and perilesional atrophic scarring overlying the posterior fontanel was noted [Figure 1]. The underlying skull beneath the scalp defect was normal. Fingers 2-5 on both hands and toes 1-3 of left foot were small with absent nails [Figure 2] and [Figure 3]. Cardiac and neurological examination was normal. There was no family history of scalp or limb defects. The mother denied any history of maternal drug intake, infection or radiation exposure during pregnancy. Hands and feet X-ray of the child revealed hypoplasia of terminal phalanges of fingers and toes. Skull X-ray, chest X-ray, echocardiography, abdominopelvic ultrasonography, brain computed tomography were all normal.{Figure 1}{Figure 2}{Figure 3}


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Diagnosis: Adams-Oliver Syndrome


Aplasia cutis congenita (ACC) is most often a benign isolated defect, but it can be associated with other physical anomalies or malformation syndromes. The combination of ACC and skeletal defects of the extremities in this patient suggests the diagnosis of Adams-Oliver syndrome (AOS).

AOS is a congenital condition comprising scalp defects and distal limb abnormalities. [1] It is mostly inherited as an autosomal dominant trait but sporadic cases have been described. [2],[3] Our case had no family history of AOS, so it is most likely a sporadic one. Although a clear pathogenesis has not been established, vascular impairments have mainly been assumed. [4] Additionally, the persistence of amniotic bands or external compression during pregnancy has been discussed. [5]

In combination with terminal transverse limb defects (TTLD), the most common site for ACC is the vertex, with the scalp defect often, but not invariably, associated with an underlying skull vault defect, with degrees of severity of involvement extending to periosteum, skull and dura. The majority of subjects with ACC have no involvement of the underlying brain and the cranial defect can, in most instances, be managed conservatively. However, the most severe manifestations can be associated with a mortality rate of between 20% and 55% due to hemorrhage or infection. [6] Urgent surgical intervention may be required with operative measures that include primary closure, skin grafting, local scalp flaps with or without tissue expansion, and cranial vault reconstruction using split rib grafts and free latissimus dorsi muscle flap. [6] The present case had ACC with normal underlying skull.

Clinically, the limb defects are the most common feature of this disease and are usually bilateral and asymmetric. The most frequently observed limb malformations in this disorder include syndactyly, brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toe nails. There is, however, a great variability in severity ranging from the complete absence of the foot or hand to only mild manifestations or normal appearance, as seen in obligate AOS carriers. [7]

Other associated defects include a variety of features including cutis marmorata telangiectasia congenita, [8],[9] hemangiomas, skin tags, supernumerary nipples, woolly hair, central nervous system abnormalities, [10],[11],[12] cardiac malformations, [13],[14] gastrointestinal and hepatic malformations, accessory nipples, microphthalmia, hereditary hemorrhagic telangiectasia and cleft lip. [15] Our patient did not have any of these anomalies as proved by examination and investigations.

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1Adams FH, Oliver P. Hereditary deformities in man due to arrested development. J Hered 1945;36:3-7.
2McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant. Am J Med Genet 2008;146:488-91.
3Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome-Mc Kusick 10030): Further suggestion of autosomal recessive inheritance. Am J Med Genet 1988;29:263-8.
4Jaeggi E, Kind C, Morger R. Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): Report of three additional cases. Eur J Pediatr 1990;149:565-6.
5Borg K, Pfeifle J. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br J Dermatol 1992;127:160-63.
6Bajpai M, Pal K. Aplasia cutis cerebri with partial acrania-Total reconstruction in a severe case and review of the literature.J Pediatr Surg 2003;38:e4.
7Sankhyan N, Kaushal RK, Jaswal RS. Adams-Oliver syndrome: A case with complete expression. J Dermatol 2006;33:435-6.
8Dyall-Smith D, Ramsden A, Laurie S. Adams-Oliver syndrome: Aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol 1994;35:19-22.
9Frank RA, Frosch PJ. Adams-Oliver syndrome: Cutis marmorata telangiectatica congenita with multiple anomalies. Dermatology 1993;187:205-8.
10Fryns 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 the early embryonic blood supply may result in Adams-Oliver (plus) syndrome. Clin Genet 1996;50:505-9.
11Davis PM, Buss PW, Simpson BA, Sykes PJ. Near fatal haemorrhage from the superior sagittal sinus in Adams-Oliver syndrome. Arch Dis Child 1993;68:433.
12Romaný× J, Puig L, Aznar G, Demestre X, Altirriba O, Alomar A. Adams-Oliver syndrome with unusual central nervous system alterations. Pediatr Dermatol 1998;15:48-50.
13Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995;47:80-4.
14Ishikiriyama S, Kaou B, Udagawa A, Niwa K. Congenital heart defects in a Japanese girl with Adams-Oliver syndrome: One of the most important complications. Am J Med Genet 1992;43:900-1.
15Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW. A case of Adams-Oliver syndrome. Ann Dermatol 2010;22:96-8.