Pages

Sunday, April 28, 2013

Congenital skin aplasia: born without skin


I translated a medical article about this interesting disorder a while ago and decided to look up a bit more information about it.

According to the Merriam-Webster dictionary, aplasia is "an incomplete or faulty development of an organ or part". Congenital skin aplasia, or aplasia congenita cutis, frequently abbreviated to ACC, is an inborn condition where the newborn child lacks skin on one or more body parts. It is seen in 1 or 2 per 10 000 live births. Sometimes only the outermost skin layer, the epidermis, is absent; sometimes the defect extends deeper. Congenital skin aplasia can be a part of various syndromes; it is often, but not always, the manifestation of some genetic disease. There is no single cause: genetic abnormalities, placental infections, exposure to teratogens (e.g. drugs such as methimazole or carbimazole) during pregnancy and intrauterine trauma can all play a role. Smaller defects can be treated using dressings; large and deep ones frequently need surgery.

Congenital skin aplasia usually (in about 85% of cases) involves the scalp, often as a single lesion without other anomalies, but any body part can be affected. In 1986, Frieden proposed a classification system of the different ACC types which is still used today.

In 1995, Khan et alreported a case where an Asian mother gave birth to a baby with abnormal skin on the chest over the ribs, the back, the hands up to the wrists, the feet up to the ankles and some other small areas of the body (around 25% of the total body surface area). In those sites, the skin was thin, shiny and translucent, the blood vessels clearly visible. A chromosomal abnormality was diagnosed. Although the child was born in good condition, with high Apgar scores, he soon developed a Staphylococcus aureus infection and, despite antibiotic therapy, died at 16 days of age.

The article contained the following photo. You can clearly see the abnormal skin on the baby's trunk and limbs.

Image from: Khan et al (1995)


Fortunately, nowadays most cases of congenital skin aplasia have a much better outcome. In 2010, Kuvat and Bozkurt reported the case of a baby boy born in Turkey with a large (ca. 17 x 8 cm) skin defect on his left leg. The skinless portion extended from the knee in front down to the foot:

Image from: Kuvat and Bozkurt (2010)


The baby also had some blistering on the hands. A family history revealed that the father suffered from epidermolysis bullosa, a genetic condition that causes the skin to be extremely fragile, blistering easily.

 The defect was treated by daily debridement with physiologic saline and an antiseptic solution, dressed with medicated gauze and healing commenced in three weeks, leaving a hypopigmented scar:

 Image from: Kuvat and Bozkurt (2010)


The authors conclude that in many cases of congenital skin aplasia, grafting might not be necessary, even when the defects are large; the wound ought to be dressed, guarded against infection and allowed to spontaneously heal. 

Literature: 

Khan et al (1995), Aplasia cutis congenita with chromosome 12q abnormality, Arch Dis Child Fetal Neonatal Ed. 72(3): F205–F206. 

Kuvat and Bozkurt (2010), Conservative treatment of a patient with epidermolysis bullosa presenting as Bart syndrome: A case report, Case Rep Med. Article ID 302345.


 

No comments:

Post a Comment