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.

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.

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.