Congenital skin aplasia (CCA) is a rare congenital anomaly involving variable layers of the skin. Eighty percent of cases are on the scalp, whereas only several reports are cases on the extremities, apart from cases of CCA on the anterior tibia in association with epidermolysis bullosa [1,2]. It is most often seen as solitary lesions or as part of a heterogeneous group of syndromes. There are only several reports of CCA on the lower extremities, with most of these having features of epidermolysis bullosa with blistering and nail abnormalities [3,4].

Frieden divided CCA into nine types depending on the number and location of lesions and the presence or absence of associated malformations. Although the precise mechanism of CCA is not fully understood, a number of possible mechanisms have been proposed, including chromosomal abnormalities, amniotic defects, amniotic cord syndrome, teratogens, and intrauterine trauma.

Herein, we report the case of a three-year-old infant without specific medication presenting with congenital loss of substance in the left leg (Fig. 1a).

Figure 1: (a) Congenital absence of skin on the left leg. (b) Unilateral clubfoot of the limb.

A dermatological examination revealed an ulcerated placard with a purplish, erythematous background and a clean surface in some places surmounted by yellow crusts, and purulent secretions in others. The placard was well-limited and irregular in the outline, with a purplish, erythematous border, painful on palpation. An osteoarticular examination found a unilateral clubfoot of the limb (Fig. 1b).

His older brother presented the same clinical picture, which regressed spontaneously at the age of one and a half years.

Our patient was diagnosed with CCA type VII because the lesion was localized on the leg and there were no vesicles, malformations, or teratogenic factors.

As in our case, skin defects along Blaschko lines have also been reported in cases with lesions on the legs, suggesting that the pathophysiology of CCA type VII may be a genetic mosaicism.

This is the second description of a congenital skin aplasia on the leg without an association with epidermolysis bullosa.

REFERENCES

1. Lei GF, Zhang J, Wang XB, You XL, Gao JY, Li XM. Treating aplasia cutis congenita in a newborn with the combination of ionic silver dressing and moist exposed burn ointment:A case report. World J Clin Cases. 2019;7:2611-6.

2. Blionas A, Giakoumettis D, Antoniades E, Drosos E, Mitsios A, Plakas S. Aplasia cutis congenita:Two case reports and discussion of the literature. Surg Neurol Int. 2017;8:273.

3. Ogundipe KO, Kadiri IA, Oluwayemi IO, Ogundare EO, Wash YS, Wuraola IO. Aplasia cutis congenita:Dilemma of management in a resource-limited scenario. J Surg. 2020;5:1274.

4. Oriji PC, Afolabi SA, Omietimi JE, Allagoa D, Doni Doni P, Ozori SE. Aplasia cutis congenita:Uncommon finding of two cases occurring in one patient in two successive deliveries. Yen Med J. 2019;1:61-5.