ANSWER: Angiokeratomas – Test Question

The correct answer is D. All of these options are correct

Correct Answer Explanation

Findings of angiokeratoma corporis diffusum are found in all three listed conditions. They cannot be distinguished by skin exam.

Angiokeratomas are one of the earliest signs of Fabry disease, typically beginning to appear during childhood or adolescence. They develop in most male patients and ~30% of female heterozygotes. Angiokeratomas present as punctate, dark-red to blue–black macules or papules. The lesions do not blanch with pressure and may become slightly keratotic as they enlarge. The angiokeratomas of Fabry disease, referred to as angiokeratoma corporis diffusum, tend to be concentrated between the umbilicus and the knees but can develop at any cutaneous site; oral and conjunctival lesions are also seen. Less frequent vascular findings include linear telangiectasias favoring the face, lips, and oral mucosa; episodic acral vasospasm resembling Raynaud phenomenon, typically accompanied by pain and paresthesias; and peripheral edema and lymphedema. Hypohidrosis is an early and almost constant feature of Fabry disease that can result in heat intolerance. Decreased body hair has also been described.

Incorrect Answer Explanation

Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.

Fucosidosis is a rare autosomal recessive lysosomial storage disease resulting from α-L-fucosidase deficiency. Multiple angiokeratoma is the main dermatological feature of Fucosidosis.

Fabry disease is a rare inherited lysosomal storage disorder. It is also known as Anderson-Fabry disease and angiokeratoma corporis diffusum.Fabry disease causes clusters of small, dark red spots on the skin (angiokeratomas) and many systemic symptoms due to the deposition of globotriaosylceramide in multiple organs.


    • A Zampetti, CH Orteu, D Antuzzi, et al.: Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. Br J Dermatol. 166:712-720 2012 22452439
    • CH Orteu, T Jansen, O Lidove, et al.: Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 157:331-337 2007 17573884
    • P Giuseppe, R Daniele, BM Rita: Cutaneous complications of Anderson-Fabry disease. Curr Pharm Des. 19:6031-6036 2013 23448454.