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2004-11-04-11 Aplasia cutis congenita © Calenbergh  www.thefetus.net/


Aplasia cutis congenita 

Steven Van Calenbergh 1,2, Ingrid Witters 1, Paul Casaer 3 and Frank Van Calenbergh 4
1. Department of Obstetrics and Gynaecology, University Hospital Gasthuisberg, Catholic University of Leuven, Belgium
2. Department of Obstetrics and Gynaecology, Sint Jozef Hospital, Turnhout, Belgium
3. Department of Pediatrics, University Hospital Gasthuisberg, Catholic University of Leuven, Belgium
4. Department of Neurosurgery, University Hospital Gasthuisberg, Catholic University of Leuven, Belgium 

This is a case of antenatally detected aplasia cutis congenita. Aplasia cutis congenita is a developmental defect characterized by the absence of skin either localized or widespread. The most commonly involved region is the scalp, however multiple locations can be affected. This fetus also has a concomitant ipsilateral brain lesion:

 

The below is an ultrasound image obtained at 34 weeks of gestation, showing no bone mass in the left occipito-temporal region [approximately 2 cm] without brain tissue herniation.

CT scan of the brain immediately after birth, illustrating the defect of the skull and skin in the left occipitotemporal region. A large porencephalic cyst is visible in the temporal lobe.

T2 weighted MRI at the age of five months, illustrating the porencephalic cyst. There was a minor delay in myelination of the left hemisphere. 

This is a picture of the neonate illustrating the visible defect.

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