Haemorrhagic macules on the palms and soles

Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review

“…Although a mutation in exon 15 of the sarcoplasmic/endoplasmic reticulum calcium-ATPase 2 ( ATP2A2 ) gene, which encodes a sarcoplasmic/endoplasmic reticulum calcium-ATPase pump (SERCA2), is found in 71% of genetically tested patients with DD and acral hemorrhagic lesions, few cases have reported conflicting genetic results, and no specific genotype-phenotype correlation has been established ( Table I ). 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 This feature has also been observed in patients with DD after they receive systemic retinoids. Herein, we report 2 cases of familial DD with acral hemorrhagic features and review other cases reported in the literature.…”

“… 1 , 9 , 14 The majority of other patients with acral hemorrhagic features also had classic DD lesions. 2 , 4 , 12 , 13 Only 7 cases have reported the sequencing results of the ATP2A2 gene in affected individuals. Although the acral hemorrhagic manifestation of DD has been associated with missense mutations in regions of the ATP2A2 gene that encode transmembrane regions of the SERCA2 protein, a consistent phenotype-genotype correlation has not been determined.…”