Outside the context of @entity465 and IgA, Mendelian inherited predisposition to small @entity10763 (SVLV) has rarely been documented. Here we report a large, multigenerational family segregating symmetrical cutaneous SVLV affecting the cheeks, thighs and hands. In all affected family members the disease presented in early infancy and there was no evidence for an association with @entity262 . Skin biopsy of lesions showed a @entity1333 with red blood cell extravasation. Complementary studies, with extensive investigation focused on dysfunction of the immunological system were negative. The pattern of inheritance of SVLV in the family was compatible with an autosomal dominantly acting disease gene with incomplete penetrance. To localize the disease causing gene in the family a genome-wide linkage search was conducted using a high-density SNP array. Haplotype construction and analysis of recombination events permitted the minimal interval defining the disease locus to be refined to a 4.7 Mb region on chromosome 6q26-q27. The genes @entity14284 and @entity68057 , which map to the linked region represent plausible candidates for the disease on the basis of their biological function. Extensive screening of both genes by mutational analysis failed to identify a deleterious mutation in the family.

XXXX maps to chromosome 6q26-q27.

@entity68057 :: ('2853', 'Gene') :: ['GPR31'] @entity1333 :: ('MESH:D014657', 'Disease') :: ['lymphocytic vasculitis'] @entity262 :: ('MESH:D034721', 'Disease') :: ['systemic disease'] @entity10763 :: ('MESH:C565222', 'Disease') :: ['vessel lymphocytic vasculitis'] @entity465 :: ('MESH:D007153', 'Disease') :: ['hereditary deficiencies of complement'] @entity14284 :: ('1235', 'Gene') :: ['CCR6']
@entity10763 :: (MESH:C565222,Disease) :: ['Dominantly inherited cutaneous small-vessel lymphocytic vasculitis']
