Fabry Disease Skin Symptoms - Angiokeratoma

A common sign of Fabry disease are small, sometimes clustered, red, reddish-purple, or blue-black skin lesions called angiokeratoma. Various additional examples of angiokeratoma are provided at the end of this article.

Recognition of angiokeratoma by physicians and individuals presents a tremendous opportunity for people unknowingly living with Fabry disease to be recognized and diagnosed. If you are a person with Fabry disease and have visible angiokeratoma, please participate in the National Fabry Disease Foundation's "Connecting the Dots" campaign, a patient-implemented physician education program to increase recognition of Fabry disease. Please email This email address is being protected from spambots. You need JavaScript enabled to view it. for details. You could forever change someone else's life for the better!

A November 2011 medical journal article1 describes Fabry angiokeratoma as follows: Angiokeratomas are present in 66% of male and 36% of female patients with Fabry Disease. Appearing as non-blanching red to blue-black lesions from 1 to 5 mm in diameter, they are not always covered by fine white scales as their name would suggest, being also macular (non-elevated spots) or just palpable (can be felt).

In classically affected males, the earliest lesions are observed during childhood on the hands, knees, elbows, and flanks. Their number increases during adolescence with lesions on the genitals, involving the penis, scrotum, and groin in men, and the lumbosacral area (lower part of the backbone or spine), gluteal cleft (groove between the buttocks) and trunk in both sexes. Later in life angiokeratoma can appear on the lips, umbilicus, periungual areas (around the fingernails or toenails) and palms and there may be macular angiomas (non-elevated discolored tumors). More lesions are usually observed in men. Females frequently have angiokeratoma on the upper back and chest and rarely on the genitalia.1

Previous reports suggest that onset of lesions occurs between the ages of 5 and 10 years in males.2 The reference did not comment on the specific age of onset for females.

Reports indicate angiokeratoma do not usually cause pain.

1. Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D, Aspite N, Linder D, Parini R, Feliciani C; Interdisciplinary Study Group on Fabry Disease (ISGF). Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. Br J Dermatol. 2012 Apr;166(4):712-20. Review.
2. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB: Fabry disease and the skin: data from FOS, the Fabry Outcome Survey. Br J Dermatol 2007, 157:331-337.