Aplasia cutis congenita of limbs recessive

Aplasia Cutis Congenita of Limbs, Recessive Aplasia cutis congenita (ACC) is a rare condition characterized by the absence of skin at birth. This article focuses on the recessive form of aplasia cutis congenita affecting the limbs.

Overview

Aplasia cutis congenita of limbs, recessive, is a genetic disorder where infants are born with localized areas of missing skin, primarily affecting the limbs. This condition is part of a broader group of disorders known as aplasia cutis congenita, which can affect various parts of the body.

Etiology

The recessive form of aplasia cutis congenita of the limbs is inherited in an autosomal recessive pattern. This means that both parents must carry one copy of the mutated gene, and the child must inherit both copies to be affected. The specific genetic mutations responsible for this condition are still under investigation, but they are believed to involve genes critical for skin development.

Clinical Presentation

Infants with this condition present with:

• Absence of skin on one or more limbs at birth.
• The affected areas may vary in size and can sometimes involve deeper layers of tissue.
• In some cases, the condition may be associated with other anomalies, such as limb malformations or syndactyly.

Diagnosis

Diagnosis is primarily clinical, based on the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Differential diagnosis includes other forms of aplasia cutis congenita and conditions such as epidermolysis bullosa.

Management

Management of aplasia cutis congenita of limbs, recessive, involves:

• Protecting the affected areas to prevent infection.
• Surgical intervention may be necessary for large defects or if deeper tissues are involved.
• Multidisciplinary care, including dermatology, genetics, and surgery, is often required.

Prognosis

The prognosis for individuals with aplasia cutis congenita of limbs, recessive, varies depending on the severity of the skin defects and the presence of associated anomalies. With appropriate care, many affected individuals can lead healthy lives.

Research Directions

Ongoing research aims to better understand the genetic basis of this condition and to develop targeted therapies. Advances in genetic testing and molecular biology hold promise for improved diagnosis and management.

See Also

• Aplasia cutis congenita
• Genetic disorders
• Dermatology

External Links

• Genetic and Rare Diseases Information Center
• [Orphanet](https://www.orpha.net/)

NIH genetic and rare disease info

• NIH info on Aplasia cutis congenita of limbs recessive

Aplasia cutis congenita of limbs recessive is a rare disease.