What percentage of patients with FD actually have dermatologic manifestations?

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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?

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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 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?

Video

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?

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

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

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?

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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?

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?

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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?

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?

Video

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?

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?

Video

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

Video

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