Aplasia cutis congenita: Successful conservative treatment

Abstract

Aplasia cutis congenita (ACC) is a rare malformation that is characterized by the total absence of all layers of skin at birth. The diagnosis is primarily clinical and the histological appearance varies. 1 Large tissue defects in ACC in the newborn present a management dilemma with no agreement upon method of treatment. Both conservative and surgical approaches to the early management of tissue defects have been reported, with varyingresults. 2 -4 We report the successful conservative treatment of a newborn child suffering from ACC with widespread lower limb involvement and no scalp or truncal involvement or extracutaneous congenital malformations. Case reportA female infant was born to a 24-year-old woman (gravida II, para II) at 38 weeks gestation. The infant was delivered by cesarean section due to detachment of the right retina in the mother. The newborn's birth weight was 3260 g, length 49 cm, head circumference 33 cm, rectal temperature 36°C and APGAR score 10 at 1 min. The pregnancy was complicated by the death of a monozygotic twin in the 15th week of gestation (fetus papyraceous). The infant was born with congenital absence of the skin that involved the anterior and inner surface of the thighs starting from the inguinocrural folds, the knees, the anterior and inner surface of the fi bula, the medial malleolus, the dorsal surface of the feet up to the head of the fi rst metatarsal, and the calcaneum curea. The skin lesions exhibited a bilateral, symmetrical distribution. A thin translucent membrane covered the skin defect and dermal vessels were easily visible. Serous fl uid exuded from the margins of the skin abnormalities. The remaining skin was thin, dry, and friable and had a tendency to develop fi ssures ( Fig. 1). No associated congenital malformations were demonstrated after a thorough clinical and laboratory examination. No other family members were reported to have similar abnormalities, and no other congenital disorders were found in this patient. Thus, after histopathological confi rmation, the infant was classifi ed as group V according to Frieden's clinical classifi cation of ACC. 5 The present case was defi ned as ACC associated with fetus papyraceous (group V) affecting the lower limbs with no further scalp or truncal involvement or structural abnormalities. The mother did not receive any medication during this second pregnancy and was being attended to at the Obstetrics Department of Ioannina Hospital where she had completed the routine prenatal examinations. The medical management in the present case was decided upon after a thorough physical and laboratory examination of the infant. The infant was closely attended to in aseptic hospital units for 1 week where regular microbiological control was performed and precise antibiotic drug therapy was provided. In cooperation with an orthopedic surgeon, we followed a conservative treatment strategy that included frequent dressing changes. The affected areas were dressed at least once daily with Epigard dressings (Ormed, Freiburg, Germany) and F...

Aplasia Cutis Congenita

“…16,25 Delayed Cranioplasty When the skull or bone is involved in ACC, reconstructive cranioplasty with rib grafts or cranial vault splitting is almost always recommended when the child is 2 to 4 years old to induce complete closure of the defect. 3,15,22,26 A congenital cranial defect will not spontaneously regenerate in most cases after this age, but the surgery is delayed until this age in case bony regrowth does occur and because of the difficulty of this surgery on an infant because of insufficient bone available for grafting. 22,26 Closure of an associated skin defect is still recommended shortly after birth, but skin grafts are discouraged because of the dangerous dissection of skin grafts off the brain and sagittal sinus that occur later with cranioplasty.…”

“…Such culprits include cocaine, heroin, alcohol, antithyroid drugs, misoprostol, methotrexate, angiotensin-converting enzyme inhibitors, methimazole, valproic acid, and benzodiazepines. 5,6,15 Another etiologic mechanism is tension on the skin and scalp during pregnancy, which may cause a tension-induced disruption of the fetal skin. Tension can be caused by pressure during labor or by rapid fetal growth.…”

“…Tension can be caused by pressure during labor or by rapid fetal growth. 5,15 Studies have proposed that ACC frequently occurs on the vertex where the area of greatest biomechanical stretch during head growth can cause a tension-induced disruption of fetal skin. 18 Another proposal to explain the frequency of midline defects of the scalp relates to errors in embryonic developmental such as incomplete closure of the outermost ectodermal portion of the neural tube.…”

“…These vascular disruptions especially in Bwatershed[ areas such as the cranial vertex and limbs result in ischemia and are thought to be sufficient to result in 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.…”

“…5,6,14 Elevated maternal and amniotic fluid alpha-fetoprotein with a positive acetylcholinesterase band has also been related to ACC. 7,15 Regardless of the etiology, once a child presents with ACC, the exposed vital structures must be protected.…”