Fig 1.
Clinical picture, pedigree, and electropherogram of the Hailey-Hailey disease (HHD) family.
Erythematous slightly scaling vesicles, papules, and plaques on the right breast, shoulder, and neck of HHD-affected 1 (a). Pedigree of the HHD family. Black squares represent affected males (aged 70, 39 and 35 years), white squares unaffected males (aged 4, 9 and 9 years), white circles represent unaffected women, icons with a crossing line represent family members that had passed away (b). ATP2C1 mutation of HHD-affected 2 shown by electropherogram at position 2355_2358 in exon 24 resulting in subsequent frameshift displayed by heterozygous mismatch (c) Electropherogram of the unaffected HHD- healthy 1displaying the reference allele (d).
Table 1.
ATPase genes in 3 HHD patients and 2 unaffected family members where SNPs could be verified to a variable extend.
Table 2.
Conservation scores and frequencies of SNPs in ATPase genes found in a Greek Family with atypical Hailey Hailey disease.