Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Aplasia cutis congenita, intestinal lymphangiectasia, lymphedema, protein-losing enteropathy
Complications	Infection, nutritional deficiencies
Onset	Congenital
Duration	Chronic
Types
Causes	Genetic mutation
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis
Prevention
Treatment	Symptomatic treatment, nutritional support, surgery
Medication
Prognosis	Variable
Frequency	Rare
Deaths

Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome is a rare genetic disorder characterized by the combination of Aplasia Cutis Congenita (ACC) and Intestinal Lymphangiectasia (IL).

Aplasia Cutis Congenita

Aplasia Cutis Congenita (ACC) is a condition where a newborn has congenital absence of skin, with or without the involvement of other layers of the skin. The most common site of ACC is the scalp, but it can occur anywhere on the body. The exact cause of ACC is unknown, but it is believed to be due to a disruption in the development of the skin during fetal growth.

Intestinal Lymphangiectasia

Intestinal Lymphangiectasia (IL) is a disorder in which the lymph vessels supplying the lining of the small intestine are blocked, leading to malabsorption, diarrhea, and protein-losing enteropathy. This condition can lead to a variety of symptoms, including abdominal pain, nausea, vomiting, and weight loss.

Symptoms and Diagnosis

The symptoms of Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome can vary greatly from person to person. However, common symptoms include skin abnormalities, gastrointestinal symptoms, and growth delays. Diagnosis is typically made through a combination of physical examination, medical history, and various diagnostic tests such as skin biopsy for ACC and endoscopy for IL.

Treatment

Treatment for Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome is primarily supportive and symptomatic. For ACC, treatment may include wound care, antibiotics to prevent infection, and in some cases, surgical intervention. For IL, treatment typically involves dietary modifications, medications to control symptoms, and in severe cases, surgery.

Prognosis

The prognosis for individuals with Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome can vary greatly depending on the severity of the symptoms and the individual's overall health. With appropriate treatment and management, many individuals with this syndrome can lead a normal life.

See Also

• List of genetic disorders
• Aplasia Cutis Congenita
• Intestinal Lymphangiectasia

NIH genetic and rare disease info

• NIH info on Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a rare disease.