Angiokeratomas found on the shaft of the penis or suprapubic region can be associated with which disease?

Angiokeratomas found on the shaft of the penis or suprapubic region can be associated with which disease?

• A. Fabry disease
• B. von Hippel-Lindau
• C. Less common dermatitis
• D. Diabetes mellitus

Answer: (A)

Angiokeratomas on the shaft of the penis or suprapubic region are a classic clue for Fabry disease. This is an X-linked lysosomal storage disorder caused by partial or complete deficiency of the enzyme alpha-galactosidase A. The resulting accumulation of globotriaosylceramide in vascular endothelium leads to widespread angiokeratomas, typically in a bathing trunk distribution that includes the trunk, groin, and genital area. Patients often have neuropathic pain (acroparesthesias), reduced sweating (hypohidrosis), and may develop kidney and heart involvement over time. Other conditions listed do not characteristically present with this genital angiokeratoma pattern. Von Hippel-Lindau is linked to vascular tumors like retinal and CNS hemangioblastomas, not this skin finding. Dermatitis and diabetes mellitus don’t produce this specific angiokeratoma distribution.

Angiokeratomas on the shaft of the penis or suprapubic region are a classic clue for Fabry disease. This is an X-linked lysosomal storage disorder caused by partial or complete deficiency of the enzyme alpha-galactosidase A. The resulting accumulation of globotriaosylceramide in vascular endothelium leads to widespread angiokeratomas, typically in a bathing trunk distribution that includes the trunk, groin, and genital area. Patients often have neuropathic pain (acroparesthesias), reduced sweating (hypohidrosis), and may develop kidney and heart involvement over time.

Other conditions listed do not characteristically present with this genital angiokeratoma pattern. Von Hippel-Lindau is linked to vascular tumors like retinal and CNS hemangioblastomas, not this skin finding. Dermatitis and diabetes mellitus don’t produce this specific angiokeratoma distribution.