An unusual presentation of glomeruloid hemangioma in a patient with VHL syndrome: A case report and review of literature

Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by inactivation of the VHL tumor suppressor gene, characterized by the development of sporadic clear cell renal carcinoma, pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. Glomeruloid hemangioma is a vascular lesion, previously considered to be specifically associated with POEMS (polyneuropathy, organomegaly, endocrinopathy/edema, M-protein and skin abnormalities) syndrome. However, there are reports of solitary glomeruloid hemangioma in patients without POEMS syndrome. We report the case of a 39-year-old male with VHL disease, with known bilateral clear cell renal carcinomas, CNS hemangioblastoma and pancreatic cysts. The patient presented with a0.35 cmred papule on the left lateral neck, which was easily irritated, and bleed frequently. Histopathologically, there were irregular areas of ectatic vascular channels of small capillaries, resembling renal glomeruli, surrounded by actin-positive pericytes, within the dermis. These findings were consistent with a glomeruloid hemangioma. Fluorescent in-situ hybridization studies confirmed a deletion in the 3p25.3 region. As per clinical tests, no evidence of POEMS syndrome was found in this patient. Only six reports of glomeruloid hemangioma have been previously reported in patients without POEMS syndrome and this constitutes the first report of glomeruloid hemangioma in a patient with VHL.

Zoon’s balanitis with mucinous metaplasia: A case report and review of literature

Mucinous metaplasia of the squamous epithelium of the glans penis is very rarely seen in the setting of Zoon’s balanitis. We report a case of 40 year old male with a past medical history of paroxysmal nocturnal hemoglobinuria, status-post allogeneic hematopoietic cell transplantation from an HLA-matched sibling 6 years prior to evaluation, complicated by oral and cutaneous chronic graft-versus-host disease. Mucinous metaplasia was confirmed by PAS and Mucin stains, and plasmacytosis was confirmed by immunohistochemistry for CD138 and MUM1 markers. Kappa and Lambda immunostains revealed a polyclonal pattern. The etiology of zoon’s balanitis as well as the significance of mucinous metaplasia in these setting are unclear and need to be further investigated.

皮炎与新生儿高IgE综合征

Objective: To characterize the dermatitis, the newborn rash, and cutaneous findings in hyper-IgE syndrome, also known as Job’s syndrome. Design: Prospective and retrospective evaluation and treatment of cutaneous manifestations in patients with a clinical diagnosis of hyper-IgE syndrome (HIES). Analysis of the newborn rash encountered in this population. Setting: Dermatology clinic at the National Institutes of Health, Bethesda, Md. Patients: Forty-three patients seen in our clinic between January 1998 and August 2003 who had a clinical diagnosis of HIES. Interventions: The UK Working Party’s Diagnostic Criteria for Atopic Dermatitis were used to assess for atopic dermatitis in this population. To assess the newborn rash, we performed a retrospective chart review and an in-person or telephone interview of the parent or caregiver of each patient. Results: Twenty-eight (65%) of 43 patients fulfilled the criteria for atopic dermatitis. Thirty-five (81%) of 43 patients reported a newborn rash, Eight (19%) of 43 were born with the rash; 23 (53%) of 43 had acquired the rash within 7 days; 32 (74%) of 43 within 14 days; 34 (79%) of 43 within 30 days; and 35 (81%) of 43 had the rash within 35 days of birth. Conclusions: The dermatitis in HIES resembles classic atopic dermatitis but may have distinctive features. A newborn rash is almost always a presenting sign of HIES. After the newborn period, skin findings include retroauricular fissures, external otitis, infected dermatitis of the axillae and groin, folliculitis of the upper back and shoulders, cutaneous abscesses, mucocutaneous candidiasis, and in some patients pitted scarring of the face.