Aplasia cutis congenita
- Aplasia cutis congenita nonsyndromic
- Congenital defect of skull and scalp
- Scalp defect congenital
Your QuestionMy daughter was diagnosed with aplasia cutis congenita. Can you provide me with more information about this condition, including its causes, associated problems, and how it might be treated?
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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.
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.
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. 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.
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.
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).
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.
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. To read more about this classification system, click here.
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