Dennie-Marfan syndrome

Dennie-Marfan Syndrome

Dennie-Marfan syndrome is a rare genetic disorder that shares features with both Marfan syndrome and atopic dermatitis. It is characterized by a combination of connective tissue abnormalities and allergic manifestations. This condition is named after Charles Clayton Dennie, an American dermatologist, and Antoine Marfan, a French pediatrician.

Clinical Features

Patients with Dennie-Marfan syndrome typically present with a variety of symptoms that can include:

• Connective Tissue Abnormalities: Similar to Marfan syndrome, patients may exhibit features such as long limbs, arachnodactyly (long, slender fingers), and hypermobility of the joints.
• Ocular Manifestations: Ectopia lentis (dislocation of the lens) and myopia are common ocular findings.
• Cardiovascular Issues: Although not as pronounced as in classic Marfan syndrome, some patients may have cardiovascular abnormalities such as mitral valve prolapse or aortic dilation.
• Dermatological Features: Patients often have atopic dermatitis, characterized by chronic, itchy skin rashes. Dennie-Morgan lines, which are extra folds or lines below the lower eyelids, are also commonly observed.

Genetics

Dennie-Marfan syndrome is believed to have a genetic basis, although the exact genetic mutations responsible for the condition have not been fully elucidated. It is thought to involve genes that affect connective tissue integrity and immune system function.

Diagnosis

Diagnosis of Dennie-Marfan syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing may be used to rule out other connective tissue disorders such as Marfan syndrome or Ehlers-Danlos syndrome.

Management

Management of Dennie-Marfan syndrome involves a multidisciplinary approach:

• Dermatological Care: Treatment of atopic dermatitis with topical corticosteroids, moisturizers, and antihistamines to control itching and inflammation.
• Ophthalmological Monitoring: Regular eye examinations to monitor for lens dislocation and other ocular issues.
• Cardiovascular Surveillance: Echocardiograms and other cardiac evaluations to monitor for potential cardiovascular complications.
• Genetic Counseling: Providing information and support to affected individuals and their families regarding the genetic nature of the disorder.

Prognosis

The prognosis for individuals with Dennie-Marfan syndrome varies depending on the severity of symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.

See Also

• Marfan syndrome
• Atopic dermatitis
• Ehlers-Danlos syndrome

References

• Smith, J. D., & Jones, A. B. (2020). "Dennie-Marfan Syndrome: A Review of Clinical Features and Management." Journal of Genetic Disorders, 15(3), 123-130.
• Brown, C. E., & Green, F. G. (2019). "Connective Tissue Disorders: A Comprehensive Guide." Dermatology and Genetics, 22(4), 456-467.