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

Angiokeratomas are rare vascular mucocutaneous lesions characterized by small-vessel ectasias in the upper dermis with reactive epidermal changes. Angiokeratoma circumscriptum (AC) is the rarest among the five types in the current classification of angiokeratoma. We present a case of an extensive AC in 19-year-old women with Fitzpatrick skin type I of the left lower extremity, characterized by a significant morphological heterogeneity of the lesions, intermittent bleeding, and negative psychological impact. Histopathological examination after deep biopsy was consistent with that of angiokeratoma. The association with metabolic diseases (Fabry disease) was excluded by ophthalmological, biochemical, and genetic examinations. Nuclear magnetic resonance imaging has not detected deep vascular hyperplasia pathognomic for verrucous hemangioma. The combined treatment with 595-nm variable-pulse pulsed dye laser (VPPDL) and 755-nm long-pulse pulsed alexandrite laser (LPPAL) with dynamic cooling device led to significant removal of the pathological vascular tissue of AC. Only a slight degree of secondary reactions (dyspigmentations and texture changes) occurred. No recurrence was observed after postoperative interval of 9 months. We recommend VPPDL and LPPAL for the treatment of extensive AC.
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PMID:Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser. 2673 60