Ackerman syndrome

Ackerman Syndrome is a rare genetic disorder characterized by severe lung disease and skin abnormalities. It is also known as Cutis Laxa with severe pulmonary, gastrointestinal, and urinary abnormalities.

Symptoms[edit | edit source]

The symptoms of Ackerman Syndrome can vary greatly from person to person. However, common symptoms include:

Cutis Laxa: This is a condition where the skin is loose, hanging, and wrinkled. In Ackerman Syndrome, the skin abnormalities are severe.
Pulmonary Abnormalities: These can include emphysema, bronchiectasis, and pulmonary hypertension.
Gastrointestinal Abnormalities: These can include diverticulosis, gastroesophageal reflux disease (GERD), and constipation.
Urinary Abnormalities: These can include bladder diverticula, recurrent urinary tract infections, and urinary incontinence.

Ackerman Syndrome is caused by mutations in the FBLN5 gene. This gene provides instructions for making a protein that is involved in the formation and repair of elastic fibers, which are flexible structures that provide strength and flexibility to connective tissue.

Diagnosis[edit | edit source]

The diagnosis of Ackerman Syndrome is based on the presence of characteristic clinical findings and confirmed by molecular genetic testing.

Treatment[edit | edit source]

There is currently no cure for Ackerman Syndrome. Treatment is symptomatic and supportive, and may include physiotherapy for skin care and joint mobility, and medication for gastrointestinal and urinary symptoms.

See Also[edit | edit source]

Ackerman syndrome Resources
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