Aplasia cutis congenita: a rare cutaneous sign of split cord malformations

Abstract

ACC may seldom manifest as a skin marker of SCM. Our patients are unique examples of SCM presenting with ACC, but not requiring surgery. It is important to recognize ACC as a cutaneous sign of SCM, and to refer these patients to radiologic evaluation as soon as possible.

Aplasia cutis congenita: report of 22 cases

“…A large number of isolated abnormalities have been described in patients with ACC, including ear malformations, colobomas, glaucoma, cleft lip and palate, absence of the nasal septum, choanal atresia, laryngomalacia, congenital heart diseases, umbilical hernia, renal anomalies, cryptorchidism, ambiguous genitalia, and distal limb anomalies …”

“…Aplasia cutis congenita may overlie overt or occult embryologic malformations such us myelomeningocele, porencephaly, spinal dysraphism, gastroschisis, and omphalocele . In our study, we present two cases of spinal dysraphism who presented with ACC on their backs (lumbar region).…”

Aplasia cutis congenita associated with type I split cord malformation: Unusual case

“…[78] In our case, the spinal cord was split by a perpendicular bony spur and connected from its tip to the upper lamina. The spur was seen extending from the posterior border of the vertebral body and penetrating the anterior dura.…”

“…[3456] However, the association of ACC with SCM is considered very rare variant and only two reports of this condition are available. [78]…”