Abstract A case report of aplasia cutis congenita of thevertex of the scalp associated with symbrachydactyly ofboth feet is presented. The Adams-Oliver syndrome,which is also known as Type 2 aplasia cutis congenita,is aplasia cutis congenita of the midline scalp seentogether with congenital limb anomalies. Although vari-ous limb anomalies linked to aplasia cutis congenitahave been described in the literature, we were not ableto find any report of bilateral symbrachydactyly of thefeet related to aplasia cutis congenita. Thus, this caseseems to represent an unreported form of the Adams-Oliver syndrome. Etiology, associated anomalies, treat-ment and complications of Adams-Oliver syndrome arereviewed.

Keywords Aplasia cutis · Symbrachydactyly ·Adams-Oliver syndrome

Introduction

Symbrachydactyly is a congenital anomaly of the handsand/or feet, which presents as short fingers that are fusedtogether [21]. The condition is usually confined to thecentral portion of the affected hand or foot [21], it is acommon congenital anomaly in the hands but seldomaffects the feet [4, 24]. Hand and foot symbrachydactyly

may occur together but this is a unusual combination[5,6]. Isolated symbrachydactyly of the foot is a rarecongenital anomaly and bilateral feet involvement iseven more uncommon [7, 24].

Aplasia cutis congenita is a rare disease, which mayinvolve any site on the body but usually includes the ver-tex with scalp and even skull involvement [30]. It mayoccur in isolation or with other congenital malformations[1,18]. A combination of various degrees of terminaltransverse limb defects and short fingers or toes accom-panying aplasia cutis congenita of the scalp is known asAdams-Oliver syndrome [1, 17, 20]. Multiple hereditarypatterns have been described for this condition (usuallyan autosomal dominant inheritance) and sporadic caseshave also been reported [17, 19]. Other malformations,such as central nervous system anomalies, may be seenin Adams-Oliver syndrome [19, 20].

We report, to the best of our knowledge, probably thefirst case in the literature with bilateral symbrachydactylyof feet associated with aplasia cutis congenita of scalp[1, 8, 10, 11, 13, 20, 26, 28, 29]. This case seems to be arare and possibly unreported presentation of Adams-Oliver syndrome.

Case reportA 4-year-old boy with an absence of hair in a localized area ofscalp and abnormalities in the toes of both feet was referred fortreatment. An examination revealed that he had localized alopeciaextending from the frontal area to the vertex in the midline, mea-suring 15 cm in length and approximately 8 cm in width(Fig. 1a,b). The lesion was scar tissue, which was heterogeneousin appearance with hypo- and hyperpigmented areas. The hair wasscarce and found mostly at periphery of the alopecic area. In addi-tion, there was hypoplasia of the second, third and fourth toes ofthe right foot. The right second and third web spaces were notpresent, which resulted in syndactyly between the second andthird and the third and fourth digits (Fig. 2a,b). There was hypo-plasia of the left first, second, third and fourth toes (Fig. 2a,b).This resulted in syndactyly between the second and third and thethird and fourth toes, respectively. The child was otherwise healthy.Oral, dental, ophthalmologic and neurological examinationswere unremarkable, and normal intelligence and developmentwere noted.

U. Koçer (✉ )Mesrutiyet Cad. 17/12, 06640 Kzılıay, Ankara, Turkeye-mail: u_kocer@hotmail.comTel.: +90-312-4175535, Fax: +90-312-4255633

U. Koçer · H.M. Aksoy · Y.Ö. Tiftikcioglu · F. BingülPlastic and Reconstructive Surgery Clinic,Ankara Training and Research Hospital, Ankara, Turkey

D. ErtoyDepartment of Pathology, Hacettepe University School of Medicine,Ankara, Turkey

G. BükülmezDepartment of Dermatology,Hacettepe University School of Medicine, Ankara, Turkey

Eur J Plast Surg (2001) 24:310–314DOI 10.1007/s00238-001-0307-y

C A S E R E P O RT

U. Koçer · H. M. Aksoy · Y. Ö. Tiftikcioglu · F. BingülD. Ertoy · G. Bükülmez

Coexistence of aplasia cutis congenita of the scalp with symbrachydactylyof bilateral feet: an unreported form of Adams-Oliver syndrome

Received: 29 March 2001 / Accepted: 14 August 2001 / Published online: 7 November 2001© Springer-Verlag 2001

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Fig. 1 Aplasia cutis congenita.a Frontal view. b From above

Fig. 2 a Symbrachydactyly of both feet. b X-ray of the feet

The alopecic area was in the form of an open wound at birth,which healed spontaneously with scar tissue. He was the first childof a primiparous woman. The mother had a normal pregnancywithout any complications that ended in a spontaneous vaginaldelivery at the end of the 39th week of gestation. She was notsubjected to any infectious diseases, medical treatment or X-rayexposure during her pregnancy. The parents were not related.There were no medical reports or history of a similar or any othermalformation in any of the relatives. There had been no previousassessment or treatment.

Skull X-ray showed a thinning of the external tables at the roofof superior sagittal sinus. Further evaluation by computed tomo-graphy (CT) scan revealed milimetrical foci of intracranial calcifi-cations in the left frontal lobe next to the frontal horn of lateralventricle. In addition there were findings that suggested vascularmalformation on a contrast-enhanced CT scan in the same area.Foot X-rays showed the loss of the distal phalanges in the hypo-plastic toes.

A punch biopsy of 4 mm was obtained from the scalp lesion.Microscopically, the epidermis was thin with flattened rete pegs(Fig. 3a), and the underlying dermis demonstrated diffuse fibrosisand hyalinized collagen bundles (Fig. 3b). A small group ofeccrine glands was present (Fig. 3a). However, no hair follicles orsebaceous glands were seen. Sections with elastic stain (Verhoff’smethod) revealed a total absence of elastic fibers (Fig. 3a,b). Mild,focal, predominantly perivascular infiltrate composed of mononu-clear cells and scattered eosinophils was found in the subpapillarydermis (Fig. 3b).

During surgery 300 cc crescent and 350 cc rectangular tissueexpanders were placed under the hair-bearing scalp on each sideof the area of the alopecia. The valves of the expanders wereplaced underneath the alopecia, and filling was performed every3–4 days for 6 weeks. When the expansion was adequate, thealopecic area was excised and the defect was completely closed byusing expanded scalp flaps (Fig. 4a,b). The pathology of theexcised specimen was the same as the punch biopsy previouslyobtained.

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Fig. 3 a Flattened epithelium. Complete absence of hair folliclesand sebaceous glands. A small group of eccrine glands are seen atthe bottom of picture (Verhoff’s stain, ×40). b Dense collagenfibers replacing the dermis (Verhoff’s stain, ×100)

Fig. 4 Postoperative view.a Frontal view. b Back view

Discussion

The patient’s chief concern was the bald area on hisscalp. There was a history of an open wound at birth inthe area of the alopecia; the latter was in the midline ver-tex of scalp and it was both alopecic and hyperpigmented.This is all in accordance with the diagnosis of aplasiacutis congenita [1, 26]. The pathological findings werescar tissue, an absence of elastic fibers and a scarcity ofskin appendages. This supports the diagnosis of aplasiacutis congenita [26]. The absence of any sign or historyof injury and inflammation as well as localised alopeciato the midline vertex of scalp excluded the diagnosis ofpost-traumatic labor or obstetric alopecia, which is alsocharacterized by scar tissue [2].

The term aplasia cutis congenita characterizes a hetero-geneous group of diseases, which have a focal absenceof the skin in common. The defect may be limited to theepidermis but often involves the full thickness of theskin that includes the underlying bone. At birth, lesionsusually present as localized erosive patches, which healrather rapidly and leave a residual scar [12]. On the otherhand, if patients present with large skin and skulldefects, there may be risks of infection and bleeding thatcan be fatal in some cases [10, 26]. Both surgical, e.g.,grafting, and conservative treatments have been proposedin such cases [30]. Aplasia cutis congenita is classified

into nine subtypes according to the pattern of absenceof the skin and the presence and types of associatedmalformations [1]. According to clinical and patho-logical findings, our case is a type-2 aplasia cutis con-genita [1].

Isolated bilateral symbrachydactyly of the feet is avery rare anomaly [24]. Micrognathia and tongue hypo-plasia have been seen with symbrachydactyly of thehand and foot [25]. Despite the fact that cases of isolatedbilateral symbrachydactyly of feet and aplasia cutis con-genita together are not specifically mentioned in theliterature, a combination of aplasia cutis congenita of thescalp and various degrees of terminal limb defects areknown as Adams-Oliver Syndrome [1,20]. The phalangesof the hands and/or feet are either short or absent inAdams-Oliver syndrome but bilateral symbrachydactylyof feet has not been reported [9, 20,27]. There is anapproximately equal distribution between the sexes,although female dominance has been suggested [10, 29].Adams-Oliver syndrome is inherited predominantly asan autosomal dominant syndrome; this displays amarked variability of expression and lack of penetrancein some cases [20]. The pedigree in some families alsosuggests autosomal recessive inheritance [15, 23]. Spo-radic cases have also been reported [29]. The phenotypevaries, with a range of mild-to-severe defects of thescalp and/or underlying bone and limb defects [29]. Thelimb defects are usually limited to the digits, but mayinvolve the long bones and are entirely absent in someobligate carriers of the Adams-Oliver syndrome gene[29]. While the underlying pathophysiologic mechanismremains unknown, it can be speculated that cranial ver-tex defects and malformation in “watershed” areas takeplace during a critical period of development [29]. Theorigin of embryologic failure in Adams-Oliver syndromeis probably a vascular disruption. Thus, the hypothesis isthat a congenital vascular abnormality is the underlyingcause and that the cutaneous defects characteristicallyseen in Adams-Oliver syndrome represent the most com-mon manifestation of this vascular abnormality [14, 22].However, the etiology of Adams-Oliver syndrome is farfrom being understood and further research is necessary.

A variety of brain and cranial malformations has beenreported in the syndrome being sometimes as severe asdysplasia of the cerebral cortex [20]. As in our case, in-tracranial calcifications without evidence of intrauterineinfection have also been mentioned in the literature [19].A literature review revealed that congenital cardiacmalformations occurred in 13.4% of all cases [31]; cutismarmorata telangiectatica congenita and dilated veins onthe trunk and extremities may also be seen [9].

Because of the family’s wishes and the problem thatalopecia presents for a preschool child, surgical interven-tion for alopecia was planned. The alopecic area was ex-cised and the resulting defect was closed using localscalp flaps after the tissue was expanded. The preferredmethod of surgical treatment for this condition is toreplace the alopecic area with an expanded hairy scalpflap [16, 30]. No complications, such as hemorrhage or

meningitis, were encountered [30]. Since a near-fatalhemorrhage from the superior sagittal sinus in Adams-Oliver syndrome resulting from cranial bone defects hasbeen reported, radiographic investigations should be per-formed prior to surgery to detect any such defects [3].

In conclusion, this case is an unreported presentationof Adams-Oliver syndrome because bilateral symbrachy-dactyly of feet has not been previously described inconnection with aplasia cutis congenita.

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