Aplasia cutis and ipsilateral congenital melanocytic naevus: an unusual association.

Sir,

The term “aplasia cutis congenita” implies a failure of skin development. The subcutaneous fat may also be partly or wholly missing and there may be an underlying skull and dural defect. Congenital melanocytic naevi are normal, benign proliferations of melanocytes present since birth. We herein report a case of simultaneous occurrence of multiple aplasia cutis in the same arm and ipsilateral facial congenital melanocytic naevus in a neonate.

A 2-week-old baby girl, born out of non-consanguinous marriage at full term, was referred to our Outpatient Department from the Department of Paediatrics, for opinion regarding candidal intertrigo. Incidentally, we discovered two non-healing ulcers over the right arm that were present since birth. It was a non-instrumental vaginal delivery with no history of any birth trauma. Parents and two other siblings of the child were healthy. Mother gave no significant history of any drug intake during pregnancy. Pregnancy was otherwise uneventful.

On cutaneous examination, there were two deep ulcers with intervening normal skin on the back of the right arm. The irregular ulcers were approximately 2.5 × 3 cm in dimension, with a raw, beefy floor exposing the underlying muscles [Figure 1]. The surrounding skin was non-erythematous with circumferential constriction bands. There were no similar lesions in other parts of the body, including the scalp. On the right side of the face, there was a large, non-hairy, linear, deeply pigmented, sharply demarcated macule extending from the pre-auricular region up to the cheek [Figure 2]. There was neither any apparent cutaneous or bony defect nor hair and nail or mucosal changes. Her neurological status was normal. Systemic examination was unremarkable.

Figure 1

Photograph of aplasia cutis with amniotic band in a neonate

Figure 2

Photograph of ipsilateral facial congenital melanocytic naevus

Venereal Disease Research Laboratory status and human immunodeficiency virus serology in the mother were non-reactive. Biopsy was not done from the pigmented lesion as her parents did not give consent. There was no other apparent congenital anomaly. The diagnosis of aplasia cutis congenita and congenital melanocytic naevus was primarily clinical.

According to modified Frieden's classification, aplasia cutis has been categorized into nine types.[1] The lesions are mostly found on the scalp. In the 7th type, it is found on the extremities, and may be associated with amniotic bands or Volkmann's ischemic contracture.[2] Amniotic bands may also be found in type 5, where aplasia cutis is associated with fetus papyraceus.[3] In this variety, multiple lesions are found in the extremities and abdomen.[3] The intrauterine death of the twin may pass unnoticed. The type 3 variety is associated with epidermal nevi like sebaceous naevus. Other types include aplasia cutis with limb reduction anomalies, associated with epidermolysis bullosa, overlying other congenital malformations, those induced by drugs and as part of several rare syndromes.

Congenital melanocytic naevus involving head, neck or posterior midline may have underlying leptomeningeal melanocytosis.[4] Congenital melanocytic naevi are said to occur in the epidermal naevus syndrome.[5] There is also a less-frequent association with neurofibromatosis.[6] There are two reported cases of membranous aplasia cutis, one with dermal melanocytosis and the other with naevus flammeus.[7]

Our case has two lesions of non-scalp aplasia cutis with amniotic band on extremity and ipsilateral facial large congenital melanocytic naevus. This is an unusual association, not described in the English literature so far, and hence has been reported here.