Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients with solitary angiokeratomas, two of the circumscribed type (Fabry) and one of the Mibelli type, are described to show that when extensive thromboses develop in an angiokeratoma, this nodular bluish-black lesion may clinically simulate a nodular melanoma.
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PMID:Thrombotic angiokeratoma circumscriptum simulating melanoma. 678 53

The cutaneous manifestations of the male external genitalia are difficult to diagnose. They may be associated with systemic disease (Reiter's disease, psoriatic arthritis, angiokeratoma corporis diffusum). In dealing with a lesion of this area that does not heal, adequate biopsy is advisable to rule out malignant disease (Bowen's disease, melanoma, Kaposi's sarcoma, Paget's disease, erythroplasia).
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PMID:NON-INFECTIOUS INFLAMMATORY AND NEOPLASTIC DISORDERS OF THE MALE GENITALIA. 1413

A 26-year-old man presented to the emergency department after a spontaneous 30 min bleed from his scrotal skin. He showed no other symptoms and denied any past medical history. He was exclusively sexually active, systemically well and haemodynamically stable. There were numerous (>50) 1-2 mm dark red, erythematous papules over the scrotum, sparing the shaft of penis, inner thigh and abdomen. A small area of blood marked the bleeding spot as a single papule. A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract tumours, varicoceles, hernias and angiokeratoma corporis diffusum (Fabry syndrome) were excluded. He was discharged with dermatology follow-up with a view to local laser treatment. The important differential diagnoses are angiokeratoma corporis diffusum and malignant melanoma (nodular type). In females, Fordyce angiokeratoma are distributed on labia majora.
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PMID:Angiokeratoma of the scrotum: a case of scrotal bleeding. 1698 95

Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Diascopy revealed partially emptied papules with keratotic surface. Kaposi syndrome, melanoma, carcinoma or angiokeratoma were suspected. Histological examination revealed angiokeratoma. Treatment based on electrocoagulation was proposed to the patient.
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PMID:[Acquired facial angiokeratoma]. 3037 86