Title: Generalized Pseudoxanthoma Elasticum with Perforating lesions-An Extremely rare entity with unusual presentation
Authors: Dr Sandhya Chauhan, Dr Ashok Garg, Dr Kuldeep Thakur, Dr Ajay Ahluwalia
DOI: https://dx.doi.org/10.18535/jmscr/v5i7.98
Abstract
Pseudoxanthoma elasticum (PXE) is a genetically inherited disorder of elastic fibers. Occurrence of perforating lesions is quite uncommon and further rarer is cutis laxa like generalized skin involvement in PXE. It is characterized by elastorrhexia of cutaneous, ocular and cardiovascular elastic tissue. Skin is affected in flexures like neck, axilla and periumbilical region. Classical cutaneous lesions are yellow papulo-plaques over lax skin giving a characteristic plucked chicken appearance to affected area. Reports of cutis laxa like generalized PXE are very sparse, further associated perforating lesions have not been described in generalized PXE till now. Here we report a 53 year old female with generalized lax skin along with erythematous and atrophic plaques surmounted with keratotic papules over the trunk. Clinical possibility of generalized PXE with perforating lesions was further confirmed on histopathology. Haematoxyline and eosin staining revealed fragmented and swollen elastic fibers in mid dermis while dystrophic calcification was demonstrated with vonkossa stain. The highlight of our case is cutis laxa like generalized skin involvement coexisting with perforating lesions in a patient of PXE.
