What are the cutaneous manifestations of Marfan syndrome?

From the Guidelines

Cutaneous symptoms of Marfan syndrome include striae distensae, hyperextensible skin, poor wound healing, and hernias, resulting from weakened elastic fibers and connective tissue due to fibrillin-1 gene mutations. These symptoms are a result of the systemic nature of Marfan syndrome, which affects not only the cardiovascular, ocular, and skeletal systems but also the skin and other tissues 1.

Key Cutaneous Symptoms

• Striae distensae (stretch marks) on the shoulders, lower back, and thighs without significant weight gain or pregnancy
• Hyperextensible skin that feels velvety and thin
• Poor wound healing leading to widened and atrophic surgical or traumatic scars
• Hernias, particularly umbilical and inguinal types, due to weakened connective tissue These skin manifestations are directly related to the fibrillin-1 mutation, which leads to dysregulation of transforming growth factor-beta (TGF-β) and impairs proper elastic fiber formation and collagen organization in the skin and other tissues 1.

Clinical Implications

The cutaneous symptoms of Marfan syndrome can have significant implications for patient care, particularly in terms of wound healing and surgical planning. Patients with Marfan syndrome may require specialized wound care and surgical techniques to minimize the risk of complications 1. Additionally, the presence of cutaneous symptoms can be an important diagnostic clue for Marfan syndrome, particularly in patients with a family history or other systemic symptoms.

From the Research

Cutaneous Symptoms of Marfan Syndrome

The cutaneous symptoms of Marfan syndrome include:

• Striae, which are significantly more frequent in patients with Marfan syndrome (92%) than in control subjects (61%) 2
• Striae on unusual locations, such as other than buttock, hip, or thigh, are more frequent in patients with Marfan syndrome (66%) than in control subjects (16%) 2
• Hypertrophic, large, or atrophic surgical or posttraumatic scars, which are present in 46% of patients with Marfan syndrome and 21% of control subjects 2

Diagnostic Value of Cutaneous Signs

The diagnostic value of cutaneous signs in Marfan syndrome is:

• Striae are a good diagnostic criterion for Marfan syndrome, particularly when arising in unusual sites 2
• The presence of striae on unusual locations has a high specificity (84%) for Marfan syndrome 2
• Hypertrophic, large, or atrophic surgical or posttraumatic scars have a sensitivity of 46% and specificity of 79% for Marfan syndrome 2

Other Manifestations of Marfan Syndrome

Marfan syndrome is a multisystem disorder that affects not only the skin, but also the:

• Cardiovascular system, with manifestations such as aortic root aneurysms and dissections 3, 4
• Skeletal system, with manifestations such as overgrowth of the long bones and skeletal abnormalities 3, 4
• Ocular system, with manifestations such as ectopia lentis and refractive alterations 3, 5