Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular
abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this
illness include bleeding, deep vein thrombosis, and embolic consequences.
Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of
angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity.
Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a
male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we
presented an 8-year-old male child who came with
a swollen left thigh and the right side of his face with overlying blackish
nodules on his left thigh and scrotum. The patient was diagnosed as KTS with
angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based
on his history, imaging studies and the typical clinical features of the
disease.
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