Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p Min Ae Lee-Kirsch, Maolian Gong, Herbert Schulz, Franz.

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Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p Min Ae Lee-Kirsch, Maolian Gong, Herbert Schulz, Franz Rüschendorf, Annette Stein, Christiane Pfeiffer, Annalisa Ballarini, Manfred Gahr, Norbert Hubner, Maja Linné The American Journal of Human Genetics Volume 79, Issue 4, Pages 731-737 (October 2006) DOI: 10.1086/507848 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the family with chilblain lupus. The arrow indicates the index patient. The asterisks (*) indicate family members included in the genomewide linkage analysis. The American Journal of Human Genetics 2006 79, 731-737DOI: (10.1086/507848) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Cutaneous findings. A, Hands of proband (V1) at 6 years of age and his mother (IV2) at 30 years of age, showing multiple ulcerating nodular lesions over dorsal aspects of fingers and knuckles. B, Dorsal feet and left heel with purpuric appearance of individual IV2. C, Left ear of individual V11 at 3 years of age, with ulcerating lesion. D, Face and hands of individual V1 at 8 years of age. The erythematous plaquelike lesions over cheeks, nose, and chin resemble butterfly rash. E, Fingers showing fresh lesions, which appear as bluish-red, indurated, and tender papules. The American Journal of Human Genetics 2006 79, 731-737DOI: (10.1086/507848) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 Histology of lesional skin biopsy from proband V1. A, Hematoxylin-eosin staining (magnification 1:100) showing lamellar orthohyperkeratosis and regions of hydropic degeneration of the stratum basale as well as single-cell necrosis. Inflammatory infiltrates with perivascular and periadnexial distribution and interface dermatitis can be seen. B, Alcian blue staining (magnification 1:40) showing increased deposits of mucin throughout entire stratum reticulare. C, Direct immune fluorescence (magnification 1:100) showing broad granular deposits of C3 along basement membrane zone. A similar pattern was also seen with staining for IgM or IgA. The American Journal of Human Genetics 2006 79, 731-737DOI: (10.1086/507848) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 Graphic summary of linkage analysis. A, Parametric linkage results identifying a single locus on chromosome 3p. B, Relative position of markers and refined physical interval for chilblain lupus, on the basis of haplotype analysis and genotyping of additional microsatellite markers. Key recombinant markers are marked in bold. AGS1 = Aicardi-Goutières syndrome, type 1. The American Journal of Human Genetics 2006 79, 731-737DOI: (10.1086/507848) Copyright © 2006 The American Society of Human Genetics Terms and Conditions