[A rare cause of nephrotic syndrome in a young woman with flank pain, milky urine and leukocyturia]. / Seltene Ursache eines nephrotischen Syndroms mit Flankenschmerzen, milchigem Urin und Leukozyturie bei einer jungen Frau.

A 27 year old patient presented with a sudden acute illness showing right flank pain, milky urine, nephrotic range proteinuria, erythrocyturia and leukocyturia in the urinary sediment with a negative leukocyte test stick. The proof of a pronounced hypertriglyceriduria led to the diagnosis of Chyluria. The lymphangiogram confirmed the presence of a retroperitoneal lymphatic dysplasia with evidence of communication with the right renal pelvis on the CT-lymphogram. Chyluria is generally the result of parasitic infection and is extremely rare in Europe. In the presence of symptoms including milky urine, proteinuria and leukocyturia in the urinary sediment and a negative urine leukocyte stick test and absence of infectious signs, chyluria must be suspected. The diagnosis should be substantiated through proof of hypertriglyceriduria and confirmed by lymphangiography.

Typical features of calciphylaxis in a patient with end-stage renal failure, diabetes mellitus and oral anticoagulation.

We report a multimorbid patient with end-stage renal failure showing a large necrosis and livedo racemosa on the right thigh. Histology revealed medial calcification of the small arteries typical of calciphylaxis. We found the typical features of the disease with different risk factors like elevated calcium-phosphate product, diabetes mellitus and oral anticoagulation. On account of the location of the skin lesions, a bad prognosis was expected. In spite of therapeutical measures with lowering of the calcium and phosphate levels, the patient died 1 month after the diagnosis had been made.

[Local vascular complications after heart catheterization]. / Lokale Gefässkomplikationen nach Herzkatheteruntersuchung.

Vascular complications such as haematoma and pseudoaneurysm are a significant problem in patients undergoing arterial catheterization. Ultrasound-guided compression of the pseudoaneurysm is a non-invasive and efficient therapy. We describe two patients with rare complications. A 59-year old man died of multiple pulmonary embolism after diagnostic cardiac catheterization. A 71-year old female patient developed a deep inguinal skin necrosis after repeated local compression of a pseudoaneurysm formed after therapeutic catheterization.

Epidermolysis bullosa simplex with mottled pigmentation.

A patient with epidermolysis bullosa simplex with mottled pigmentation is described. Clinical features include blistering of the skin, especially of the extremities; healing without scars; slight atrophy of the skin; and striking mottled pigmentation of the trunk. Histologic examination of a biopsy specimen from freshly frictioned, clinically uninvolved skin indicated a split inside the basal keratinocytes, focal hyperpigmentation of the basal cells, and pigment incontinence without an inflammatory infiltrate. Indirect immunofluorescence demonstrated focal discontinuity of the basement membrane zone. Electron microscopic examination revealed basal keratinocytes with few intact intracellular organelles, aggregated tonofilaments, and subnuclear splitting with the basal parts of the cells adhering to the basement membrane. Both normal basement membrane and zones of irregular and interrupted structures were seen. Hemidesmosomes and anchoring fibrils appeared to be normal.

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa.

Type VII collagen, the major structural component of the anchoring fibrils, was assayed in normal unaffected skin of patients with different forms of hereditary epidermolysis bullosa. Immunofluorescence staining with affinity-purified polyclonal antibodies to type VII collagen revealed a complete absence of staining in the skin of patients with severe dystrophic recessive epidermolysis bullosa. In all other forms, localized recessive dystrophic, dominant dystrophic, junctional and simplex forms there was an intense continuous linear staining of type VII collagen at the dermoepidermal junction. Also, obligate heterozygote carriers of the gene for severe dystrophic recessive form showed a normal pattern of staining. As internal controls and to define the clinical diagnosis, staining with antibodies to type IV collagen, laminin and bullous pemphigoid antigen was also performed. All these antibodies showed a normal staining pattern indicating an intact general morphology of the dermoepidermal junction zone. These results suggest that there is a defect of type VII collagen in patients with severe recessive dystrophic epidermolysis bullosa. The data also suggest that the group of recessive dystrophic epidermolysis bullosa may be heterogeneous not only clinically, but also at the molecular level.