Aplasia cutis

Aplasia Cutis Congenita
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Synonyms	Congenital absence of skin
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of skin, usually on the scalp
Complications	Infection, bleeding, scarring
Onset	At birth
Duration	N/A
Types	N/A
Causes	Unknown, possibly genetic or environmental factors
Risks	N/A
Diagnosis	Clinical examination
Differential diagnosis	N/A
Prevention	N/A
Treatment	Wound care, surgical intervention if necessary
Medication	N/A
Prognosis	Generally good with proper care
Frequency	Rare
Deaths	N/A

Aplasia Cutis Congenita (ACC) is a rare congenital condition characterized by the absence of skin in localized or widespread areas of the body, most commonly affecting the scalp. The condition is present at birth and can vary in size and severity.

Presentation

Aplasia cutis congenita typically presents as a well-demarcated area of missing skin, which may appear as a superficial erosion or a deeper ulceration. The most common site is the scalp, but it can also occur on the trunk or limbs. The lesions can range from a few millimeters to several centimeters in diameter.

Causes

The exact cause of aplasia cutis congenita is unknown. It is believed to result from a combination of genetic and environmental factors. Some cases have been associated with chromosomal abnormalities, such as trisomy 13 and trisomy 4p. Other potential causes include teratogenic exposures during pregnancy, such as certain medications or infections.

Diagnosis

Diagnosis of aplasia cutis congenita is primarily clinical, based on the characteristic appearance of the lesions. A thorough medical history and physical examination are essential. In some cases, additional investigations such as genetic testing or imaging studies may be warranted to rule out associated anomalies or syndromes.

Management

The management of aplasia cutis congenita depends on the size and location of the lesions. Small lesions may heal spontaneously with conservative wound care, while larger or deeper lesions may require surgical intervention. It is important to prevent infection and protect the area from trauma. In some cases, skin grafting may be necessary to promote healing.

Prognosis

The prognosis for individuals with aplasia cutis congenita is generally good, especially if the lesions are small and uncomplicated. However, larger lesions may lead to complications such as infection, bleeding, or scarring. Long-term follow-up may be necessary to monitor for potential complications and ensure proper healing.

Also see

• Congenital disorder
• Dermatology
• Genetic disorder
• Trisomy 13

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