see also Adams-Oliver, syndrome
Very rare: 3/10,000 births. Sporadic. Congenital absence of variable size parts of the epidermis and the dermis. The causes may be infectious, vascular, teratogenic or due to an amniotic band. The lesion is unique in 70 % of cases. It is associated with other congenital malformations in 8 % of cases. The most frequent location is at the scalp level: in 15 to 20 % of cases, there is an underlying osseous aplasia. In those cases, the morbi-mortality is high: meningitis, hemorrhage ...
The typical presentation is a translucid membrane through which the underlying structures can be seen: bone, venous sinus, etc ...
Classification of Frieden:
- group 1: lesion of the scalp without any other anomalies
- group 2: lesion of the scalp with limbs anomalies (Adams-Oliver syndrome)
- group 3: lesion of the scalp with epidermal or sebaceous nevus and/or ophthalmic or neurologic anomalies
- group 4: lesion with an underlying defect: gastroschisis, meningomyelocele
- group 5: lesion in the context of the death of a twin in utero (papyraceous fetus) and placental infarction
- group 6: lesion with epidermolysis bullosa of the limbs
- group 7: lesion located to the lower limbs
- group 8: lesion of teratogenic or infectious origin
- group 9: lesion associated with another syndrome: trisomy 13, ectodermic dysplasia
Local treatment: greasy and humid dressings or silver sulfadiazine ointments. Sometimes surgery for skin graft. In a second stage, skin expansion to cover alopecic areas.
Anesthetic implications:
according to site of the lesion and associated anomalies: semi-urgent neonatal surgery when the size of the lesion requires the protective covering of the longitudinal sinus or the meninges.
References :
- Belkhou A, François C, Bennis Y, Duquennoy-Martinot I, Guerreschi P.
Aplasia cutis congenita : mise au pint et prise en charge.
Ann Chir Plast Esth 2016 ; 61 : 450-61
- Chayed Z, Kamaleswaran S, Bygum A.
A spot diagnosis: Aplasia cutis congenital in monozygotic twins.
The Lancet Sept 7, 2019; 394, 10201, p868.
- Min Quak S,Yuet Chong S.
Case report: anesthesia for a neonate with cutis aplasia.
A&A Practice 2022;16:e01628
Updated: November 2022