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Aplasia Cutis Congenita
Tuesday, 17 June 2003
Tuesday, 23 November 2004

What

Aplasia cutis congenita is a developmental absence of skin. It may either be localized or widespread, and is most commonly seen on the scalp. Defects may also occur on the face, trunk, or limbs. Aplasia cutis congenita is associated with scarring of the skin, and hair loss where the scarring occurs. Lesions of the skin occur spontaneously, and are present at birth. They may involve only the upper layers of skin resulting in minimal scarring and hair loss, or they may involve the deep layers of the skin resulting in more severe scarring and hair loss.

Who

This disorder is very uncommon and there is no one race or gender that is more likely to get it than another.

Signs and Symptoms

Aplasia cutis congenita is characterized by non-inflammatory lesions with well-defined margins, and the lesions range in size from 0.5cm to 10cm (1/4 to 4 inches). These lesions are essentially areas where the skin did not develop. The lesions may be circular, oval, linear, or star-like in configuration. The appearance of the lesions varies depending on when they occurred during development in the uterus. Lesions that form early in gestation may heal before delivery, and may appear as scar tissue with absence of hair where the scar tissue is located. More recent defects may look like ulcers.

Possible Causes

The cause of aplasia cutis congenita is unknown.

Diagnosis

A diagnosis is made based on physical findings. Usually, special tests or biopsies are not needed.

Treatment

Treatment involves taking care of the open wounds when present, and extensive scarring may be treated surgically. Occasionally, skin grafting may be required. It does not progress or cause additional problems later on in life. Usually, it is mostly a cosmetic problem, unless a part of the body with an important function is involved (for example, hands or joints).

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Keratin.com.
A nice, easy to read explanation of the disease process.

DERMNET
A well-written, easy tp read website with information and pictures about the disease.

E-Medicine
A website with detailed information about the disease process.

Google Search for Aplasia Cutis Congenita

References and Sources

Behrman: Nelson Textbook of Pediatrics, 16th ed., Aplasia Cutis Congenita. home.mdconsult.com eMedicine- Aplasia Cutis Congenita, Mark A. Crowe, MD. www.emedicine.com/derm/topic32.htm Rudolph’s Pediatrics 21st ed. (2002) 14. The Skin- Amy S. Paller 14.4 Selected Genetic Disorders of the Skin http://online.statref.com