Giant Angiolymphoid Hyperplasia with Eosinophilia on the Chest

Angiolymphoid hyperplasia with eosinophilia is a rare vascular proliferation characterized by single or multiple purplish, brownish papules and subcutaneous nodules, sometimes associated with pain or pruritus. This rare benign process occurs with a female predominance. Approximately 85% of the lesions occur in the skin of the head and neck; most of them are around the ear or on the forehead or scalp. Whether angiolymphoid hyperplasia with eosinophilia represents a benign neoplasm or an unusual reaction to varied stimuli, including trauma, the etiology remains unclear. Histopathologically, the lesions consist of a proliferation of blood vessels of variable size lined by large epithelioid endothelial cells and a variable inflammatory infiltrate of lymphocytes and eosinophils, sometimes with lymphoid follicle formation. The lesion is benign but may be persistent and is difficult to eradicate. We report on a case of a 58-year-old Caucasian man who presented a purplish pink dome-shaped tumor of size up to 8 cm in diameter located on the chest. We emphasize this case considering the unusual dimensions of the lesion (8 cm diameter) and the atypical location on the chest.

Pseudo-Kaposi's Sarcoma Because of Suction-Socket Lower Limb Prosthesis

Pseudo-Kaposi sarcoma is a benign reactive vascular proliferation mainly involving the lower legs, which can be related to acquired chronic venous insufficiency or congenital arteriovenous malformations. In its most common presentation, acroangiodermatitis is seen in patients with chronic venous insufficiency of the lower limbs as an exaggeration of the stasis dermatitis. However, rare reports of acroangiodermatitis include descriptions in amputees (especially in those with poorly fitting suction-type devices), in patients undergoing hemodialysis (with lesions developing distally to arteriovenous shunts) and in patients with paralyzed legs. We report on a 28 year-old-male who presented pseudo-Kaposi's sarcoma in an amputation stump because of suction-socket lower limb prosthesis.

Urinary Tract Effects of HPSE2 Mutations

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS.