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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

When my second daughter was born last year, I noticed that she had a small bald patch the size of a coin. I am afraid that she might have aplasia cutis congenita. Can you provide me with information about this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

What causes aplasia cutis congenita?

There is no one cause for all cases of aplasia cutis congenita.[2][3] The condition is thought to be multifactorial, which mean that several factors likely interact to cause the condition.[1][3] Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma.[1][4][3] Some cases may represent an incomplete or unusual form of a neural tube defect.[5] Familial cases of aplasia cutis congenita have been reported.[1][5] Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.[5]

Last updated: 2/2/2010

What does aplasia cutis congenita commonly look like?

Aplasia cutis congenita is characterized by the absence of a portion of skin in a localized or widespread area at birth. It most commonly (70%) manifests as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. The lesions are noninflammatory and well demarcated, and they range in size from 0.5-10 cm. Aplasia cutis congenita may be circular, oval, linear, or stellate in configuration.[3] The appearance varies depending on when the lesion occurred in utero.[1] Defects in the skin that form early in gestation may heal before delivery and appear as an atrophic, membranous, or parchment-like scar with associated alopecia (absence of hair), whereas less mature defects present as ulcerations. Most lesions occur on the scalp vertex just lateral to the midline, but defects may also occur on the face, the trunk, or the limbs, sometimes symmetrically. The depth may involve only the epidermis (the outer-most layer of skin) and the upper dermis (the second of the three major layers of skin), resulting in minimal alopecic scarring, or the defect may extend to the deep dermis, the subcutaneous tissue (fat), or rarely the periosteum, the skull, and the dura.[3] 


Last updated: 2/2/2010

What other conditions can be associated with aplasia cutis congenita?


Most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with isolated physical anomalies or congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems.[1][2] Larger lesions are more likely to be associated with other defects. Lesions with findings such as vascular flushing, tethering (which may be a sign of a dural attachment), or abnormal surrounding hair may signal further abnormalities and warrant evaluation.[1]

Associated malformation syndromes may include Opitz, Adams-Oliver, and oculocerebrocutaneous, Johanson-Blizzard, 4p(-), X-p22 microdeletion syndromes, trisomy 13–15, and chromosome 16–18 defects. Aplasia cutis congenita may also be found in association with an overt or underlying embryologic malformation, such as meningomyelocele, gastroschisis, omphalocele, or spinal dysraphism (one or more vertebrae do not form normally). Aplasia cutis congenita in association with fetus papyraceus is apparently due to ischemic or thrombotic events in the placenta and fetus. Blistering or skin fragility and/or absence or deformity of nails in association with aplasia cutis congenita is a well-recognized presentation of epidermolysis bullosa.[2]

Scalp aplasia cutis congenita lesions may be seen in association with distal limb reduction anomalies (anomalies involving underdevelopment of the ends of the limbs), generally with autosomal dominant inheritance, or sporadically (not inherited) in association with epidermal and organoid nevi (moles on the skin and the organs).[5]

Maternal ingestion of the hyperthyroid drug methimazole or herpes simplex virus or varicella-zoster virus infection in the womb may also be associated with aplasia cutis congenita.[5] 

Frieden created a classification system for aplasia cutis congenita consisting of 9 groups based on the number and location of the lesions and the presence or absence of associated malformations.[3] To read more about this classification system, click here.

Last updated: 2/2/2010

How might aplasia cutis congenita be treated?

The management of aplasia cutis congenita of the scalp is controversial.[6]; both surgical and conservative treatment modalities have their proponents and opponents.[7] 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.[8]

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.[8]

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.[8]

    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

    References