26/03/2026
2 weak old male child presented in opd with
Absent skin at occipital area
Diagnosis as aplasia cutis congenita
Aplasia cutis congenita (ACC) is a rare disorder where babies are born with missing skin, most commonly (70%–90%) on the scalp vertex. It presents as a localized, solitary ulcer or membrane-covered lesion, but can rarely affect deeper tissue. Treatment is usually conservative, focusing on wound care.
National Organization for Rare Disorders
Causes
The exact cause is often unknown, though it is likely a heterogeneous condition.
Genetic Factors: Some cases are inherited, particularly in families with autosomal dominant patterns.
Intrauterine Factors: Exposure to viruses (herpes, varicella) or medications, including methimazole (used for hyperthyroidism), co***ne, or valproate.
Vascular/Amniotic Issues: Vascular disruptions,
Symptoms
Lesions: Well-demarcated absent skin, often at the vertex (top) of the scalp.
Appearance: Red, raw, or ulcerated areas, sometimes covered with a thin, transparent membrane.
Healing: Most heal in the first few months on their own, leaving behind a hairless, scarred patch (alopecia).
Associated Issues: Rarely, deeper tissue damage can expose the skull, dura, or cause sagittal sinus hemorrhage.
Treatment
Treatment focuses on preventing infection and promoting wound healing.
Conservative Management: Most lesions are treated with daily cleansing and the application of ointments (e.g., petrolatum or antibiotics) until healing occurs.
Surgery: Surgical excision, skin grafting, or flap transfer may be required for large, deep lesions or if severe complications arise.
Risk Factors & Prognosis
Risk Factors: The primary risk factor is the use of medications like methimazole during pregnancy.
