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Genetic and Rare Diseases Information Center (GARD)

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Aplasia cutis congenita

Other Names for this Disease
  • Aplasia cutis congenita nonsyndromic
  • Congenital defect of skull and scalp
  • Scalp defect congenital
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Your Question

My son was born with aplasia cutis congenita. He is now one year old and the spot on his head is about 4 inches long and 1/2 inch wide. As his head grows, the lesion continues to get bigger. His dermatologist has prescribed a skin cream to keep it moist, but my son continues to scratch it open daily. My son's doctor says that there is nothing that can be done until he is a teenager when a portion of the membrane can be removed and his scalp can be stitched together. I can't see waiting that long without a better recommendation. What treatment options are available? 

Our Answer

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What is aplasia cutis congenita?

Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone.[1] It most commonly affects the scalp, but any location of the body can be affected.[2] While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems.[1] The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised skin perfusion.[1] 
Last updated: 3/22/2010

How might aplasia cutis congenita be treated?

The management of aplasia cutis congenita of the scalp is controversial.[3]; both surgical and conservative treatment modalities have their proponents and opponents.[4] The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect.[5]

Local therapy includes gentle cleansing and the application of bland ointment or silver sulfadiazine ointment to keep the area moist. Antibiotics may be utilized if overt signs of infection are noted. In many cases, other treatment is not necessary because the erosions and the ulcerations almost always heal on their own. Recently, a variety of specialized dressing materials have been developed and used.[5]

Surgical repair is not usually indicated if the defect is small. Recovery is generally uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life. Surgical repair of large or multiple scalp defects may require excision with primary closure, if feasible, or the use of tissue expanders and rotation of a flap to fill the defect. On occasion, skin and bone grafts may also be required.[5]

    Last updated: 2/2/2010

    What complications can arise with aplasia cutis congenita?

    Major complications of aplasia cutis congenita are hemorrhage, secondary local infection, and meningitis. If the defect is small, recovery is uneventful, with gradual growth of the skin and formation of a hairless scar over a period of several weeks. Small bony defects usually close spontaneously during the first year of life. Large or numerous scalp defects may require excision and primary closure if possible, rotation of a flap to fill the defect, or the use of tissue expanders. Trunk and limb defects, despite large size, usually become covered with skin and form atrophic scars.[2]
    Last updated: 2/2/2010