The Complete Guide to Aplasia Cutis Congenita

When my youngest daughter was born with a hole in her head, I laughed and referenced the daisy rhyme..."Mama had a baby and her head popped off!" Little did I know, the condition was called aplasia cutis congenita and it could be much more serious than I thought.

Aplasia Cutis Congentia is characterized by defects in the skin, usually the scalp, that form during fetal gestation. The well demarcated wounds many times heal before the baby is born, but in some cases, if the wound was created in the later stages of formation, the wound may appear open upon birth.

While many of the cases of aplasia cutis congenita are completely benign and heal completely, other are simply representatives of more serious underlying problems.

The levels of aplasia cutis congenita can be measured on a scale of 1 to 9.

Stage 1 consists of a single wound without any other defects to the baby. Nearly 86% of stage 1 aplasia cutis congenita is found on the scalp.

Stage 2 consists of wounds on the scalp with presented limb abnormalities. Limb abnormalities may include, but are not limited to, limb reduction and an absence of distal phalanges.

Stage 3 consists of wounds on the scalp with presented opthalmologic, neurological and epidermal abnormalities. These abnormalities may include seizure and mental handicaps.

Stage 4 consists of wounds on the scalp with presented underlying scalp and cranial defects.

Stage 5 consists of trunkal and limb wounds associated with the death of a twin fetus early in the second trimester.

Stage 6 consists of wounds to the lower extremities presented as a precursor for epidermolysis bullosa (EB).

Stage 7 consists of wounds localized to extremities (predominantly hands and feet) without any signs of EB.

Stage 8 consists of wounds associated with the presence of tetratogens to the fetus during gestation. Tetratogens are used to treat the herpes simplex virus or varicella zoster virus.

Stage 9 consists of wounds associated with malformation syndromes. This stage of aplasia cutis congenita, the wound is only a symptom for other conditions including, but not limited to, Patau syndrome, Wolf-Hirschhorn syndrome, Johanson-Blizzard syndrome, Goltz syndrome, Delleman syndrome and Finlay-Mark syndrome.

While most cases of aplasia cutis congenita will heal to a simple scar without outside help, some cases will require stitches to the scalp immediately after birth.

Doctors and scientists do not know the reason for benign forms of aplasia cutis congenita. And, with less than 1,000 cases reported since first described, it is doubted a reason will be discovered soon. It is estimated that nearly 3 out of every 10,000 births suffer from some form of aplasia cutis congenita, but many are never reported due to the disorders self-healing, and generally benign nature.

Aplasia cutis congenita is one of those unknown factors of childbirth. There are no tests to divulge if your newborn will be born with this condition. In our stage 1 case, the wound was sutured and healed to a hairless scar in a little more than 1 week. It remains unknown whether or not even simple stage 1 aplasia cutis congenita is a precursor or symptom of another disorder and until more cases are reported findings will remain vague.

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