Aplasia cutis congenita

Aplasia cutis congenita (ACC) is a rare condition characterized by the absence of skin (and sometimes underlying tissues such as subcutaneous fat, bone, or dura mater) at birth. The defect most commonly occurs on the scalp, particularly near the vertex, but can also affect the trunk, limbs, or other body areas. The lesions may appear as well-demarcated ulcers, erosions, or areas covered by a thin membrane, and they vary in size and depth. In most cases, the defect is limited to the skin and heals spontaneously with scarring and permanent alopecia in the affected area. However, deeper defects involving the skull bone or dura mater can lead to serious complications including hemorrhage, infection, or sagittal sinus thrombosis. ACC has been classified into nine groups (Frieden classification) based on the location of the defect, associated anomalies, and mode of inheritance. It can occur as an isolated finding or in association with other congenital abnormalities, including limb defects (Adams-Oliver syndrome), epidermolysis bullosa, trisomy 13 (Patau syndrome), and other genetic syndromes. Some cases are linked to fetus papyraceus (a deceased co-twin) or to in utero exposure to certain medications such as methimazole. Treatment depends on the size and depth of the defect. Small, superficial lesions are typically managed conservatively with wound care, topical antibiotics, and protective dressings, allowing healing by secondary intention. Larger or deeper defects, particularly those exposing the sagittal sinus or brain tissue, may require surgical intervention including skin grafting or flap reconstruction. Long-term outcomes are generally favorable for isolated superficial cases, though cosmetic concerns related to scarring and alopecia may require later surgical correction. Genetic counseling is recommended, especially when ACC occurs as part of a recognized syndrome.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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