Sir,
Aplasia cutis congenita (ACC) implies congenital absence of skin with or without absence of underlying structures such as bone or dura.[1] Bullous aplasia cutis congenita (BACC) is a recognized clinical subtype of the ACC.[2] We are reporting a case of BACC presenting exclusively on the abdomen.
A 2-day-old full term male baby, born of non-consanguineous marriage to a HIV positive mother, delivered normally by the vaginal route, was referred from the department of pediatrics, for opinion regarding baby having blisters and ulcers on the abdomen with no history of new lesions after birth. There was no history of trauma by any means during the perinatal period. There was no history of fever or any other history suggestive of cutaneous or systemic infection.
On cutaneous examination, multiple polysized flaccid bullae, were seen of irregular shape, on an erythematous base, distributed on the left side of midline, in the left lumbar quadrant of the abdomen, in a stellate arrangement [Figures 1 and 2]. The intervening skin was normal to erythematous [Figures 1 and 2]. Nikolsky's and Bulla spread signs were negative. The rest of the cutaneous examination was unremarkable. Hair, nail and mucosae were normal. Systemic examination revealed no abnormalities. On the seventh day of birth, bullae had flattened with a thin, atrophic scar [Figures 3 and 4].
Figure 1.
Lesions on second day of life
Figure 2.
Multiple flaccid bullae on an erythematous base on the abdomen
Figure 3.
Lesions on seventh day of life
Figure 4.
Resolving bulla with thin atrophic scar
Hemogram was within normal limits. Tzanck smear was negative for acantholytic cells and multi-nucleated giant cells. HIV screening and Venereal Disease Research Laboratory (VDRL) tests were non-reactive.
Skin biopsy was not done for obvious reasons. Ultrasound abdomen revealed no abnormalities. There were no other apparent congenital abnormalities.
Mother's antenatal history was uneventful except that she tested positive for HIV in the first trimester during the antenatal check-up. There was no history of maternal chicken pox or herpes simplex infection during pregnancy. There was no history of intake of specific drugs implicated for causation of this disease.
The diagnosis of congenital absence of skin is primarily clinical.[3] Other neonatal vesicobullous disorders like epidermolysis bullosa, staphylococcal scalded skin syndrome, incontinentia pigmenti were considered and ruled out.
Many theories have been considered for causation of congenital absence of skin, such as mechanical events, amniotic bands, vascular malformation in utero, failure in the process of embryologic development and cutaneous rupture caused by the pressure of cerebral development.[4] According to the hypothesis proposed by Drolet et al,[5] variant of BACC occurring on the scalp may represent the form fruste of a neural tube closure defect. Frieden[6] and Sybert[7] have proposed classifications for aplasia cutis on the basis of the associated abnormalities and inheritance patterns.
Yudkin[8] reported the first case of BACC in an infant in 1948. About 16 cases have been reported in English language literature; all had lesions on the scalp[2]. This could reflect the rare occurrence of the disorder or represent significant underreporting. Some authors[5] equate the terms “bullous” and “membranous” in the description of this subtype of lesion. Lesions described as cystic or bullous at birth, with time, transform into flat, atrophic scars covered by a thin epithelial membrane.[2] We are aware of the existence of many reports in which either the photographs or description of the lesions as “punched-out” in appearance suggest the possibility of bullous or membranous ACC.
Treatment is rarely necessary as the lesion almost always heals spontaneously and rapidly.[3] Cause for BACC occurring on the trunk has so far not been explained in the available literature. The role of HIV in this case still remains an enigma.
Our case had typical bullous lesions as mentioned in literature. To the best of our knowledge, this is the first report of BACC from India.
References
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