Pseudoxanthoma elasticum

Periumbilical perforating pseudoxanthoma elasticum: a rare case report

“…Pseudoxanthoma elasticum (PXE) is a rare inherited disease of connective tissue causing fragmentation and mineralization of elastic fibers that primarily affects the skin, retina, and cardiovascular system [ 1 ]. Classically it is characterized by multiple asymptomatic small (1–5 mm in size), yellowish coalescing papules that are symmetrically distributed on the neck and flexural body areas, such as the axillae, antecubital fossae, periumbilical, inguinal and popliteal areas [ 2 ].…”

Mid‐dermal elastolysis

“…In most patients, inactivation mutation of ABCC6 gene leads to abnormal expression of multidrug resistance protein 6 and increased elastin degradation [9]. Skin damage often occurs in childhood [9]. Typical skin lesions are yellow fusion papules, and a cobblestone appearance in fold areas; the mucous membranes and eyes as well as the gastrointestinal and cardiovascular systems may also be involved.…”

“…Typical skin lesions are yellow fusion papules, and a cobblestone appearance in fold areas; the mucous membranes and eyes as well as the gastrointestinal and cardiovascular systems may also be involved. The histology is characterized by calcified and clustered elastic fibers in the mid-dermis [9].…”

“…Histology shows that elastic tissue paucity occurs in the papillary dermis and/or mid-reticular dermis [1]. Pseudoxanthoma elasticum is an autosomal recessive genetic disease [9]. In most patients, inactivation mutation of ABCC6 gene leads to abnormal expression of multidrug resistance protein 6 and increased elastin degradation [9].…”

“…Pseudoxanthoma elasticum is an autosomal recessive genetic disease [9]. In most patients, inactivation mutation of ABCC6 gene leads to abnormal expression of multidrug resistance protein 6 and increased elastin degradation [9]. Skin damage often occurs in childhood [9].…”