Reparation of a Severe Case of Aplasia cutis congenita with Engineered Skin

Abstract

Aplasia cutis congenita (ACC) is an uncommon congenital malformation. It is characterized by defects of the skin that occur most frequently on the scalp along the midline, but can also be localized on the trunk, face and limbs, usually with a symmetrical distribution. When it is localized in the skull it can extend to the dura mater, leaving only the thin pia mater to protect the brain. The most common complications related to this disorder are infection, hemorrhage, and, in defects localized on the vertex, meningitis and bleeding from the sagittal sinus can occur with dramatic consequences. In those cases some authors suggest the use of local flaps even if this implies a surgical procedure. In this case a 2.540-kg baby was delivered at 40 weeks of gestation be eutocic delivery, and good adaptation to extrauterine life. At birth the baby showed a large cutaneous and osseous defect at the vertex measuring 68 cm², equal to almost one third of the calvarial surface, and extended to the dura mater through which it was possible to see the sagittal sinus and the brain surface with its vessels. Skull X-rays showed loss of normal radioopacity of the cranial vault with lack of ossification especially at the parietal level. In our patient we therefore decided to use a composite graft of cultured autologous fibroblasts and keratinocytes to provide coverage, avoiding any surgical procedure and patient morbidity. This technique consists first in an autograft of cultured fibroblasts which has proved to promote the production of type IV collagen, fibronectin and laminin whereby creating an ideal bed for the taking of the graft of cultured keratinocytes, to be put in place a week later. The use of a composite graft with both the derma-like and epithelial components has been also suggested to diminish scarring. Two months after the last graft area was completely closed.

Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management

“…Substitutes for split-thickness skin grafts have been used in dealing with the scalp defects but are most useful for secondary deformities resulting from scalp rotations, including: Biobrane®, cultured epithelial autographs, Dermal Regeneration Template [53,54], composite graft of cultured autologous fibroblasts and keratinocytes [55], acellular dermal graft with cultured epithelial autografts [56,57], recombinant human fibroblast graft (Trafermin®) [28], petrolatum dressings [28], and silicone elastomer membrane [39]. In both our patients, the donor sites resulting from the rotation of the scalp flaps and the original abdominal skin defects were managed temporarily with Biobrane® and later definitively covered with cultured epithelial cell autografts harvested from the groin.…”

The Evolution of Neonatology

“…It is already possible to gain access to fetal cells and to grow them selectively. This offers therapeutic potential (208), and such tissue engineering has already occurred (209).…”

Aplasia Cutis Congenita

“…13Y15 Other genetic anomalies associated with ACC include chromosomal aberrations, trisomy 13, deletion syndromes (4p), and genetic mutations. 5,6,16 Aplasia cutis congenita also has been associated with a number of specific syndromes. Suarez et al 5 reported on 3 of 36 patients with ACC who had Adams-Oliver syndrome and 1 patient who had cutis marmorata telangiectasia syndrome.…”

“…Setleis, AndersonHollister-Szalay, and Johanson-Blizzard and Goltz are syndromes also associated with ACC. 5,16,17 Teratogens have been posed as another hypothesis for the etiology of ACC. Fetal exposure to certain teratogens during pregnancy has been blamed for causing ACC.…”

“…2,6,15,17,18 Aplasia cutis congenita usually presents as a solitary defect but can be associated with many different structural abnormalities including cleft lip and palate, limb reduction defects, epidermolysis bullosa, duodenal/ileal atresia, patent ductus arteriosus, omphalocele, meningocele and encephalocele, polycystic kidney, gastroschisis and neurologic malformations, ectodermal dysplasia, and fetus papyraceus. 7,15,16 The infants with fetus papyraceus tend to have large cutaneous truncal and limb defects, with the scalp often spared. 7 Another possible etiology of ACC is intrauterine trauma or infection.…”