|Year : 1991 | Volume
| Issue : 5 | Page : 242-243
Congenital absence of skin
C Arun Inamadar, Anil Navadgi, G Krishnakumar, Ya
C Arun Inamadar
Source of Support: None, Conflict of Interest: None
A premature baby with extensive and bilaterally symmetrical absence of skin since birth is reported.
Keywords: Aplasia cutis Congenita, Congenital absence of skin.
|How to cite this article:|
Inamadar C A, Navadgi A, Krishnakumar G, Ya. Congenital absence of skin. Indian J Dermatol Venereol Leprol 1991;57:242-3
Congenital absence of skin otherwise termed as aplasia cutis congenita (ACC) is a circumscribed area in which the skin is absent at birth. The common site of predilection is the midline area of the posterior scalp. We are reporting here a case with more extensive congenital defects of the skin over multiple areas and symmetrical distribution, which is rarely seen. The aetiology, clinical presentation, differential diagnosis and prognosis is discussed. To our knowledge, this is the first report from India of aplasia Cutis congenita affecting multiple areas with symmetrical distribution.
| Case Report|| |
A two-day-old premature male baby, born of non-consanguinous marriage was referred to department of Dermatology, by the paediatrician, for opinion regarding baby having multiple ulcers over the body. On cutaneous examination, the baby had multiple areas of skin, symmetrically involving temporal area of scalp, trunk, limbs, nose and penis [Figure - 1]. There was complete absence of skin and subcutaneous tissue. The underlying bone, vessels and at places muscle that were visible in these areas were covered with thin glossy appearing tissue. Oral mucous membrane was normal. Systemic examination did not reveal any abnormalities. There was no history of development of further lesions after birth till the death on 7th day of life.
Mother's antenatal history was uneventful. There was no family history of similar defect. Hair, mucous membrane and nails of parents did not reveal any obvious abnormalities.
| Comments|| |
The diagnosis of congenital absence of skin is primarily clinical. 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 pressure of cerebral development. It seems reasonable to consider those midline scalp lesion as having an entirely different etiology from those affecting the trunks and limbs symmetrically as with the present case. A familial basis is less common in the latter, and the finding of a monozygotic fetus papyraceus is rather frequent. It has therefore been suggested that this latter type of lesion might be a consequence of embolic derived from blood clots in the dead twin, transmitted via placental anastomoses. In other cases like ours where there is no fetus papyraceus, the emboli might derive from the placenta itself.
Congenital absence of skin may be associated with many other congenital anomolies like-ring constriction of a limb, distal limb anomolies, congenital heart disease, traecheo-esophageal fistula, cleft palate and lip, double cervix and uterus, spastic paraplegia with mental retardation, cerebral malformation and occult spinal dysraphism,
Treatment is rarely necessary as the lesion almost always heal spontaneously and rapidly, Scalp is the most common site of aplasia cutis congenita, 86 percent of all solitary lesions occuring - here. Occasionally, keloidal scarring and joint contracture can be seen. In cases with extensive involvement prevention of secondary infection, further trauma and effective temperature regulation can reduce mortality. Fatality is due to complications like haemorrhage, meningitis or infection. Mortality in the present case can be explained on the basis of failure of body temperature regulation in view of extensive areas of body being devoid of skin in an already deranged thermoregulation due to premature delivery of the baby.
| References|| |
|1.||Atherton DJ, Rook A : Naevi and other developmental defects, in : Text book of Dermatology, Vol.1, Fourth Ed, Editors, Rook AJ, Wilkinson DS & Ebling FJG: Oxford University Press, Bombay, 1987: P 225-227. |
|2.||Soloman LM, Esterly NB: Neonatal dermatology, Vol IX in the series Major problem in clinical paediatrics, WB Saunders Company Limited, Philadelphia, 1973; P55 |
|3.||Stephan MJ, Smith DW, PonZi JW et al: Origin of Scalp Vertex aplasia cutis, J Paed, 1982; 101:850-853. |
|4.||Frieden IJ: Aplasia cutis congenita: A clinical review and proposal for classification, J Amer Acad Dermatol, 1986; 14: 646-660. |
[Figure - 1]