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In a large retrospective case series, various skin abnormalities such as follicular papules, comedones, hypertrophic pilosebaceous units, angiokeratoma of Fordyce, leucoderma macules, and haemangiomas have been shown to be associated with NLCS.
Angiokeratoma, purple papules on upper thighs and mucosal areas, is a typical but not specific symptom.
Some patients may have rash in Scrotum, angiokeratoma and this cannot be diagnosed unless one examines the patients carefully.
One of the patients had pulmonary hypertension, one had cornea verticillata, two had angiokeratoma and five had proteinuria (Tables 2, 3).
Angiokeratoma ectasia of blood vessel were seen in 2 patients and both were male.
1 Fabry's disease is also known as Anderson Fabry's disease, Angiokeratoma Corporis diffusum universal and Morbus Fabry.
Abstract Angiokeratoma corporis diffusum (ACD) is a variety of angiokeratoma, characterized by diffuse cutaneous hyperkeratotic vascular lesions.
Clinically, patients manifest angiokeratoma, anhidrosis, and acroparesthesias, and in later stages cardiomyopathy, cerebrovascular disease, and renal insufficiency.
Angiokeratoma is a very rare vascular lesion of the papillary dermis.
2,3) The major clinical manifestations in patients with classic Fabry disease, that is, with no detectable [alpha]-Gal A activity, include pain in the distal extremities and acroparesthesia, angiokeratoma, hypohidrosis, corneal opacity in childhood, and progressive vasculopathy of the heart, kidney, and central nervous system.
Ocular manifestations in angiokeratoma corporis diffusum (Fabry).
An angiokeratoma is a benign pink-red to blue-black variably sized papule or plaque that is typically 2 to 10 mm in diameter.