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Paula Luna, MD

Director of the Fellowship on Psoriasis
and Other Inflammatory Disease
Hospital Aleman
Buenos Aires, Argentina

What are the characteristic angiokeratoma skin lesions and dermatologic hallmarks associated with Fabry Disease (FD)? At what age do they present? In what distribution? With what other conditions might they be confused in the differential diagnosis?

What are the characteristic angiokeratoma skin lesions and dermatologic hallmarks associated with Fabry Disease (FD)? At what age do they present? In what distribution? With what other conditions might they be confused in the differential diagnosis?

At what point in the natural history of FD do the dermatologic manifestations of FD appear? Do they tend to appear prior or after other collateral manifestations - GI symptoms or acroparesthesias?

At what point in the natural history of FD do the dermatologic manifestations of FD appear? Do they tend to appear prior or after other collateral manifestations - GI symptoms or acroparesthesias?

What is the pathophysiology of the angiokeratomas and telangiectasias seen in FD, what is the typical distribution of these lesions—in male versus female patients—and with what other conditions might these be confused?

What is the pathophysiology of the angiokeratomas and telangiectasias seen in FD, what is the typical distribution of these lesions—in male versus female patients—and with what other conditions might these be confused?

How often are the dermatologic manifestations of FD the portal of entry into the diagnosis of this condition, and what is the role of the dermatologist for ensuring the diagnosis of FD is made as early as possible?

How often are the dermatologic manifestations of FD the portal of entry into the diagnosis of this condition, and what is the role of the dermatologist for ensuring the diagnosis of FD is made as early as possible?

What is the natural history of FD dermatologic lesions over time? Do the angiokeratomas and telangiectasias evolve, change distribution, or regress over time? What is the differential diagnosis? What does a biopsy show?

What is the natural history of FD dermatologic lesions over time? Do the angiokeratomas and telangiectasias evolve, change distribution, or regress over time? What is the differential diagnosis? What does a biopsy show?

What is the differential diagnosis of the angiokeratomas and telangiectasias that are characteristic of FD? With what other conditions might these lesions be confused?

What is the differential diagnosis of the angiokeratomas and telangiectasias that are characteristic of FD? With what other conditions might these lesions be confused?

What are the ophthalmologic findings of FD and how are they temporally related to the dermatologic manifestations of FD?

What are the ophthalmologic findings of FD and how are they temporally related to the dermatologic manifestations of FD?

When you encounter angiokeratomas that you think are characteristic of FD, what is your next step in the diagnostic process? Do you routinely biopsy the lesions? What are the characteristic findings, and do you do genetic testing?

When you encounter angiokeratomas that you think are characteristic of FD, what is your next step in the diagnostic process? Do you routinely biopsy the lesions? What are the characteristic findings, and do you do genetic testing?

Why is it important to make the diagnosis of FD? What therapeutic action steps can be taken if the diagnosis is confirmed? What role can the dermatologist play in preventing more significant target organ involvement?

Why is it important to make the diagnosis of FD? What therapeutic action steps can be taken if the diagnosis is confirmed? What role can the dermatologist play in preventing more significant target organ involvement?

What percentage of patients with FD actually have dermatologic manifestations?

What percentage of patients with FD actually have dermatologic manifestations?

If FD disease is diagnosed by a dermatologist during childhood or adolescence, what is the therapeutic/management/referral roadmap in this patient population? How do you approach the multi-disciplinary nature of this condition?

If FD disease is diagnosed by a dermatologist during childhood or adolescence, what is the therapeutic/management/referral roadmap in this patient population? How do you approach the multi-disciplinary nature of this condition?

What can dermatologists do to raise awareness of FD and ensure the diagnosis is confirmed?

What can dermatologists do to raise awareness of FD and ensure the diagnosis is confirmed?