Aplasia Cutis Congenita Associated with a Fetus Papyraceus: A Case Report

Abstract

Madam, Aplasia cutis congenita (ACC) is defined as absent or scarred areas of skin at birth; it is a rare anomaly, with just over 500 reported cases of ACC in the literature. The estimated incidence is between 0.5 and 3/10,000 births, frequently involving the midline over the skull vertex (70%) and any other regions of the body. ACC could present as an isolated lesion or might be associated with a number of other congenital anomalies; as in Adams–Oliver syndrome, or association with a Papyraceus fetus, or epidermolysis bullosa.[1] We report a 38-week-old male neonate who presented with a birth weight of 2800 g by vaginal delivery with an Apgar score of 10 associated with a fetus papyraceus, to healthy parents with non-consanguinity. The pregnancy was spontaneous and well-monitored. There was no reported medication use by the mother and no history of infectious diseases. During pregnancy monitoring, the obstetrical ultrasound revealed a monozygotic twin at the 15th week of gestation, and the pediatrician’s evaluation did not reveal any particular findings. Physical examination on 3 days of life presented with a skin defect in the scalp associated with a distribution pattern of bilateral symmetrical truncal, buttock, and thigh. Polygonal defects on the flanks measured 4 cm in the greatest diameter; a translucent membrane was observed over the aponeurosis through which underlying blood vessels could be seen [Figures 1 and 2], and no other congenital abnormalities were found. This case was classified as Frieden group 5. Initial management of the wound was based on occlusive dressings with paraffin gaze changed every day, following strict aseptic measures. No infectious complications occurred. The progression was favorable, with epithelialization observed in the early days. Thin skin grafts (taken from the posterolateral aspect of both thighs) were added to the abdomen [Figure 3]. Complete healing was noted after 4 weeks [Figure 4].Figure 1: (a and b) Extensive symmetric areas of the absence of skinFigure 2: Congenital skin defect in the scalp (2 days old)Figure 3: Thin skin grafts of the abdomen 2 weeks after graftingFigure 4: Atrophic scarring formation (4 weeks old)In our case, ACC is classified under Group V according to Frieden’s classification, and clinically, the lesions exhibited a highly characteristic symmetric distribution of trunk, buttock, and thigh in an H configuration pattern surrounding the umbilicus.[2] Several hypotheses have been proposed in the absence of a confirmed pathophysiological explanation. These hypotheses include the nonclosure of the neural tube; some researches associate it with conditions such as intrauterine vascular ischemia, mechanical or traumatic origin, and vascular, genetic, or medication-related causes. However, other theories have also been mentioned in the literature, such as intrauterine infections, smoking and cocaine use during pregnancy, and adherence of the amniotic membrane to fetal skin.[3] The most likely hypothesis of a papyraceous fetus is that of the twin-to-twin transfusion syndrome, with a massive transfusion from the surviving twin to the dying twin due to the monochorionic pregnancy and resulting placental vascular shunts in the surviving twin leading to cutaneous ischemia and necrosis.[4] The prognosis for patients with ACC associated with a papyraceous fetus is generally favorable, with rare occurrences of extracutaneous lesions. In the majority of cases, simple directed healing of the cutaneous lesions is sufficient, while grafting remains an option for extensive forms to prevent infection.[5] We have presented another case of a rare congenital deformity; ACC and even more exceptional when associated with a fetus papyraceus, which makes our observation particularly interesting and contributes to the database for this pathology. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the name and initials of their child will not be published, and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.