Satoru Shinkuma, Hideki Nakamura, Manami Maehara, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Satoshi Hasegawa, Kazuko C. Sato-Matsumura, Riichiro Abe, Hiroshi Shimizu
DOI: 10.2340/00015555-3318

Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.

Nail-patella syndrome is caused by mutations in the LMX1B gene that lead to anomalies of dorsal-ventral limb patterning. Some patients show abnormalities of the glomerular basement membranes; however, little is known about the epidermal basement membrane. This study found no abnormalities in the epidermal basement membrane zone. This finding suggests that nail deformities can be caused by the abnormal development of dorsal limb structures rather than dysfunction of the epidermal basement membrane.