Familial occurrence of pseudoxanthoma-elasticum-like papillary dermal elastolysis

We report the morphological, immunohistochemical and ultrastructural cutaneous findings of two sisters, aged 72-74, with pseudoxanthoma-elasticum- like papillary dermal elastolysis (PDE), recently defined as an age-related condition. To our knowledge, these are the first familial cases of PDE reported in the literature. The lesions appeared as small, asymptomatic, soft papules around the neck and axillary regions. The affected skin revealed a marked decrease of normal elastic network of papillary dermis without alterations in either the relevant collagen or reticular dermis. Ultrastructural and immunohistochemical examinations showed activated dermal fibroblasts with abundant elongated dendritic cytoplasmic processes and the absence of myofibroblasts. The well documented avoidance of sun exposure (the patients are both nuns), the rare incidence of the disorder (only six cases reported), and the familial occurrence suggest that genetic or inherited predisposition should also be considered in the pathogenesis of PDE.