Aplasia Cutis Congenita

Definition

Definition of Aplasia Cutis Congenita
Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars") is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.

Symptoms

Symptoms of Aplasia Cutis Congenita
The infant born with aplasia cutis congenita has a patch of skin missing, usually on the scalp (70% of individuals), but it may also occur on the trunk, arms, or legs. There may also be more than one missing patch. The affected area is usually covered with a thin transparent membrane, is well-defined, and is not inflamed.

If aplasia cutis congenita occurs on the scalp, there may be a defect of the skull underneath the missing patch. In this case, there is often distorted hair growth around the patch, known as the hair collar sign.

Causes

Causes of Aplasia Cutis Congenita
Exogenic causes (amniotic attachment, intra uterine injury or vascular abnormalities) have been accused but numerous genetic cases with improper autosomal predominant infection have been reported. New born with thoracic dysplasia associated with lung dysplasia usually die during the neonatal period due to respiratory failure.

Diagnosis

Diagnosis of Aplasia Cutis Congenita
Diagnosis of aplasia cutis congenita is made based on the physical appearance of the infant’s skin. No specific laboratory test is needed. Very large scalp defects, especially those with the hair collar sign, should be investigated for possible underlying bone or soft tissue defects.

Treatment

Treatment of Aplasia Cutis Congenita
Small areas of aplasia cutis usually heal spontaneously over time. To prevent infection gentle cleaning and bland ointments may be used. If infection occurs antibiotics can be used. Larger lesions may require surgical repair.

Prognosis

Prognosis of Aplasia Cutis Congenita
Consult with your doctor.

Prevention

Prevention of Aplasia Cutis Congenita
Aplasia cutis congenita of the scalp may be complicated by sagittal sinus hemorrhage or thrombosis, and primary closure with scalp flaps may prevent a potentially fatal outcome.