A Rare Congenital Case: Aplasia Cutis Congenita

Aplasia cutis congenita (ACC) is a congenital disease characterized by the absence of skin and subcutaneous tissue in varying proportions.

It was defined by Cordon in 1767. The incidence of the disease is 1 to 3 per 2,000 to 10,000. It has an equal incidence in both males and females. While small lesions can heal with conservative methods, surgical repairs are required for large defects.

Although ACC is most commonly located on the scalp, it can be located on the neck, forearm, knee, and trunk too. The disease usually appears as a single lesion, and the disease with multiple lesions is extremely rare. It can be seen alone or with some genetic diseases.

Here, we aimed to present the case of ACC, which we encountered as multiple lesions.

A 1-day-old baby presented to the neonatal intensive care unit due to multiple wounds on the scalp. On physical examination, 3 × 2 cm and 3 × 3 cm ulcerated lesions were detected in the scalp vertex region. Bone tissue could be palpated at the base of the lesion ([Fig. 1]). No lesions were detected elsewhere in the patient. There was no additional disease or additional anomaly in the patient. Other system examinations were normal.

Fig. 1 Image of the lesion before treatment.

There was no drug use during pregnancy. There was no history of trauma during pregnancy and childbirth. There was no genetic disease in the family and no consanguinity among the parents.

Conservative treatment was recommended, and antibiotic pomade was used in the treatment.

There was no problem in the follow-up, and the lesions healed without any problem ([Fig. 2]).

Fig. 2 Image of the lesion after treatment.

The diagnosis of ACC is made by physical examination, and biopsy is not often required. Lesions are usually regional. Some patients may have a complete deficiency, whereas others may have a superficial deficiency.

Frieden has classified this disease into nine subgroups. Group 1 usually includes patients with isolated skin defects on the scalp. Group 2 includes Adams–Oliver syndrome, which is accompanied by skin defect and limb anomaly. Epidermal and sebaceous nevi accompany the lesion in group 3. Nevus is usually located in the region adjacent to the lesion, and there may also be neurological and eye findings. In group 4, besides the lesion, there are embryological malformations such as meningomyelocele and omphalocele. In group 5, there is fetus papyraceus or placental infarction with the lesion. In group 6, epidermolysis bullosa accompanies the lesion. In group 7, there are cases of ACC located in the lower extremity without epidermolysis bullosa. In group 8, the cause of the disease is teratogens. In group 9, there are patients in which ACC and some syndromes are present together, and in this group, Wolf–Hirschhorn's syndrome, trisomy 13, Goltz's syndrome, Ellis-van Creveld's syndrome, and Bart's syndrome have been reported.

The equivalent of our case in the Frieden classification is group 1.

A conservative approach or surgical repair can be considered according to the size of the lesion. Our patient was treated with conservative methods. In terms of subsequent births, genetic analysis should be kept in mind in patients with ACC.

Publication History

Article published online:
11 September 2020