Aplasia cutis congenita of extremities (group VII): case report from North-Western Nigeria

Abstract

Aplasia cutis congenita (ACC) is a rare congenital disorder characterised by localised or widespread absence of skin mainly affecting the scalp. Bilateral involvement of both the upper and lower extremities is uncommon. This is a case report of a rare congenital disorder. The patient was a 26-hour-old male baby admitted with extensive absence of skin on the lower and upper extremities. He was co-managed conservatively with the plastic surgical team for ACC group VII. The lesions were healing satisfactorily until 12 days into the admission when the parents signed against medical advice despite counselling. ACC with involvement of both upper and lower extremities is a rare presentation that responds to conservative treatment. The report emphasises the need for a legal framework for physicians to override the decision of the caregiver not in the best interest of a child.

INTRODUCTION

Aplasia cutis congenita (ACC) is a rare and heterogeneous group of congenital disorders that are characterised by localised or widespread absence of skin [1]. Its estimated incidence is 1 per 10,000 live births [2]. It commonly affects the scalp in the majority of cases but may also affect other sites such as the trunk and limbs [3]. It is inherited either as autosomal dominant or recessive and may also be the product of a new mutation [4]. Although the exact cause of ACC is unknown, intrauterine exposure to some teratogens may play a role in the aetiology [2]. The condition was classified by Frieden [3] into nine groups based on characteristics of the lesion, associated abnormalities and type of inheritance. To the best of our knowledge, this is the first case report of ACC from North-Western Nigeria.

CASE REPORT

The patient was a 26-hour-old male newborn who presented with a complete absence of skin over extensive areas of the extremities noticed at birth. He was delivered at home unsupervised. Both pregnancy and delivery were uncomplicated. He cried immediately after birth though the APGAR scores and birth weight were not available. The mother took traditional medications during the third trimester but was not exposed to radiation. The parents were first-degree cousins but had no family history of similar conditions. The baby was admitted to the hospital due to this skin lesion.

On physical examination, his anthropometry and vital signs were normal. There was a bilaterally symmetrical absence of skin over the anteromedial aspect of the lower extremities, starting from the distal third of the thighs and extending to the dorsal and medial plantar aspect of the feet (Figure 1). There were also involvements of the distal third of the arms extending to the proximal third of the forearms. The dorsal of the hands was also affected in addition to the distal third of the left forearm. The lesions were characterised by sharply demarcated borders covered by a red ultrathin translucent membrane, and vascular structures were readily visualised (Figure 1). The scalp and the mucous membranes were not affected. Systemic examination was normal. Results of the laboratory investigations, including the baby’s full blood count, electrolytes and renal function tests, were within normal limits, and serologic tests for infection were negative. Wound swab for microscopy, culture and sensitivity yielded no bacterial growth.

Figure 1.

ACC. There is bilaterally symmetrical absence of skin over the anteromedial aspect of the lower extremities, the distal third of the arms extending to the proximal third of the forearms, the dorsal of the hands, and the distal third of the left forearm.

The baby was co-managed conservatively with the plastic surgical team. The lesion was dressed with sufra-tulle using nonocclusive method which was later changed to povidone iodine cream after 5 days. He was also placed on prophylactic antibiotics. The lesions were granulating satisfactorily. Unfortunately, the father left with the baby against medical advice despite adequate and repeated counselling after 12 days of inpatient care due to the negative impact of their continued hospital stay on the parental economic and social life (farm and need to care for other children). The village they resided in was far from our hospital, the only facility offering neonatal care in the entire State. Follow-up on his case was not successful due to a lack of connectivity to the caregiver’s mobile telephone number despite several attempts made.

DISCUSSION

Cordon [5], reported the first case of ACC. Thereafter, there have been few reported cases in the literature, mostly outside Africa [2]. This is the first reported case, to the best of the authors’ knowledge, from North-Western Nigeria. ACC is a clinical diagnosis with no specific histological alterations even though Gassenmaier et al. [6] described nonpathognomonic histopathologic changes resembling a deep-reaching scar with fragmented elastic fibres among 10 subjects in their series [7]. According to Frieden and Schierz, 70%–90% of ACC lesions are localised to the vertex of the scalp [7]. This implies that the index neonate fell among the uncommon form of presentation which constitutes only 10%–30% of this rather rare disorder. Earlier reports showed either upper or lower limb involvement. The index patient has involvement of both upper and lower extremities. Mava and Yakubu [8] had reported a similar case in Jos, Nigeria, while two families in which multiple members had ACC on the pretibial lower extremities and the dorsal aspects of the hand and the feet were described outside Africa [9].

ACC was classified by Frieden [3] into nine groups based on characteristics of the lesion, associated abnormalities and type of inheritance. The index patient fitted into the rare group VII which is described as ACC localised to the extremities without epidermolysis bullosa/blistering [3].

Although there was no positive family history of the disease, the presence of parental consanguinity may suggest autosomal recessive inheritance in this case. Although the use of traditional medications was reportedly restricted to the third trimester, this history might not be very reliable, and first-trimester ingestion of unorthodox medications with, perhaps, some teratogenic effect could not be totally excluded. On the other hand, the mother did not use any antithyroid drugs, anticonvulsants or other drugs implicated in the aetiology of the condition [7].

Lesion swab culture and sensitivity requested on presentation was because of the baby’s home delivery in a suspected unhygienic environment. The swab, however, yielded no growth of any organism. The results of other laboratory results were all within normal limits. These may lend credence to the earlier postulation that no specific laboratory abnormalities are documented to be consistently associated with the condition [7,8].

The index child was responding very well to the medical treatment with the ulcer granulating satisfactorily. The use of medical, surgical or both forms of treatment is dependent primarily on size, depth, location of the defects and therapy of associated abnormalities [1]. This child had nonocclusive sufratulle dressing which was later changed to iodine cream (Wosan) when the lesion started granulating. Other agents including honey were used in another report with success [8]. Therefore, a conservative approach should first be considered even in large defects before surgical repair.

The prognosis of ACC is usually good except in cases with other associated conditions such as meningocoele, gastroschisis, foetal papyraceous and genetic/malformation syndromes (including Adams-Oliver, Bart, XY gonadal dysgenesis) [1,7]. The index neonate had no associated obvious abnormality; hence the prognosis was anticipated to be good. Unfortunately, he did not get the luxury of having full treatment due to the negative impact of continued hospital stay on the economic and social life of the parent (need to care for other children and also go to the family farm). The village where they resided was far from our hospital (the only facility offering neonatal care in the State). This highlights the need to make neonatal care services accessible (in terms of cost and location) in the Kebbi State of Nigeria. Follow-up on his case was not successful due to a lack of connectivity to the caregiver’s mobile telephone number at several attempts possibly secondary to poor network coverage in their village. This brings to the fore the need for a legal framework to allow physicians to override the decision of the caregiver in the event their decision is not in the best interest of their child.

CONCLUSION

ACC involving the extremities is a rare unique presentation that responds to conservative treatment. The case report also highlights the need to increase the accessibility of neonatal care. We, therefore, recommend public awareness of the clinical condition. This report will also raise awareness among healthcare providers.

CONFLICTS OF INTEREST

The authors declare no conflict of interest.

FUNDING

None.

ETHICAL APPROVAL

The parents signed informed consent for the publication of the case as well as the inclusion of the photographs. Confidentiality of the patient was ensured. For instance, the picture attached was de-identified. The authors declare that ethics committee approval was not required for this case report.