Dennie–Marfan syndrome

Dennie–Marfan syndrome is a rare genetic disorder that exhibits features of both Marfan syndrome and atopic dermatitis. It is named after the American pediatrician Charles Clayton Dennie and the French pediatrician Antoine Marfan.

Clinical Features

Dennie–Marfan syndrome is characterized by a combination of symptoms from both Marfan syndrome and atopic dermatitis. The primary features include:

• Skeletal abnormalities: Similar to Marfan syndrome, individuals may exhibit arachnodactyly (long, slender fingers), pectus excavatum (sunken chest), and scoliosis (curvature of the spine).
• Cardiovascular issues: Patients may have aortic aneurysms or other heart-related problems, which are also common in Marfan syndrome.
• Ocular issues: Ectopia lentis (dislocation of the lens) and other eye problems may be present.
• Skin manifestations: Symptoms of atopic dermatitis, such as eczema, dry skin, and itching, are common.

Genetics

Dennie–Marfan syndrome is believed to be inherited in an autosomal dominant manner, similar to Marfan syndrome. Mutations in the FBN1 gene, which encodes the protein fibrillin-1, are often implicated.

Diagnosis

Diagnosis of Dennie–Marfan syndrome involves a combination of clinical evaluation, family history, and genetic testing. The presence of both Marfan-like features and atopic dermatitis symptoms is crucial for diagnosis.

Treatment

There is no cure for Dennie–Marfan syndrome, and treatment is primarily symptomatic. Management may include:

• Cardiovascular monitoring: Regular check-ups with a cardiologist to monitor heart health.
• Orthopedic care: Treatment for skeletal abnormalities, which may include physical therapy or surgery.
• Dermatological care: Management of atopic dermatitis with moisturizers, topical steroids, and other medications.

Prognosis

The prognosis for individuals with Dennie–Marfan syndrome varies depending on the severity of symptoms and the presence of complications, particularly cardiovascular issues.

Related Pages

• Marfan syndrome
• Atopic dermatitis
• FBN1
• Aortic aneurysm
• Ectopia lentis
• Scoliosis