A Japanese case of Kindler syndrome

A 25-year-old Japanese woman presented with contracture of the fingers and toes, and difficulty in opening her mouth. Her grandparents are first cousi ns, but none of the other members of the family are affected. Bulla formati on started at birth on areas of the skin that received pressure, and in inf ancy and early childhood the lesions were limited only to the acral areas. She also had bilateral, incomplete syndactylies involving all web spaces (F ig. 1a). The formation of blisters ceased after the age of 15 years, but a generalized progressive poikiloderma then appeared with accompanying cutane ous atrophy of the skin of the neck, trunk, and extremities (Fig. 1b). The patient experienced mild photosensitivity of the face and neck. At age 18 y ears, surgical removal of the webbing of all her fingers was performed. Ora l examination showed atrophy of the buccal mucosa, and an inability to full y open the mouth. The patient also suffered from poor dentition and easily bleeding gums, but had no symptoms of esophageal dysfunction. Histology of separate biopsy specimens, taken from the poikilodermatous pre tibial and trunk skin, showed classical features of poikiloderma, namely ep idermal atrophy with flattening of the rete ridges. vacuolization of basal keratinocytes, pigmentary incontinence, and mild dermal perivascularization (Fig. 2a). Interestingly, dyskeratotic cells (Fig. 2b) and eosinophilic ro unded bodies (colloid bodies) (Fig. 2c) were frequently found at the basal keratinocyte layer and in the upper dermis, respectively. Pigment was also present in the upper epidermis. To rule out the possibility of a congenital epidermolysis bullosa, ultrastr uctural and immunofluorescence studies were performed. Ultrastructural stud ies demonstrated the reduplication of the basal lamina with branching struc tures within the upper dermis and cleavage between the lamina densa and the cell membrane of the keratinocytes (Fig.3a). The numbers of associated anc horing fibrils did not seem to be reduced, and colloid bodies and dyskerato tic cells were detected. Immunofluorescence studies with the antibody again st type VII collagen (LH 7:2) were subsequently carried out. The results sh owed extensive broad bands with intermittently discontinuous and reticular staining at the dermo-epidermal junction (DEJ) (Fig. 3b), whereas a linear distribution is typically seen in healthy tissue (data not shown). Interest ingly, direct immunofluorescence studies revealed intracellular accumulatio n of immunoglobulin G (IgG), IgM, IgA, and C3 in colloid bodies under the b asement membrane (Fig. 3c).