PSEUDO-XANTHOMA ELASTICUM (PXE) IN A 30-YEAR-OLD PRIMIGRAVIDA: A CASE REPORT

Introduction Pseudo-xanthoma elasticum (PXE) is a rare inheritable condition (affects 1 in 25000 to 1 in 100000) with autosomal recessive inheritance. Skin changes may appear in childhood but due to asymptomatic and benign look of the condition, the diagnosis is frequently not made until serious systemic or ocular complications develop in the third or fourth decade of life. Case report A 30-year-old primigravida in her 20 weeks of pregnancy reported to Dermatology OPD, RIMS, Imphal with complaints of red colored, itchy skin eruptions over her abdomen since the last two months. The lesions were insidious in onset and gradually increasing in size and numbers since onset of pregnancy. She was diagnosed as Pseudo-Xanthoma Elasticum in 2005, when she presented with asymptomatic skin lesions over neck .On ophthalmological examination she was found to have Angioid streaks in the retina.There were no other concurrent complaints suggestive of systemic or ocular involvement. On examination, there were multiple erythematous papules, few coalescing to form erythematous plaques with ill defined borders on both sides of her flanks and peri-umbilical area. The skin over the anterior part of neck showed characteristic ‘plucked chicken skin’ appearance of PXE. The nape of neck and both lateral surfaces of the neck showed ‘sagging of the skin’. Histopathological examination revealed characteristic fragmented elastic fibers in mid-dermis. Patient reported after normal vaginal delivery with no aggravation of skin lesions and onset of any unfavorable systemic manifestations.Conclusion Diagnosis of PXE is usually delayed due to its benign nature. Dermatologists should have high degree of suspicion to diagnose at initial stages of the disease to avoid serious complications. This case is reported for its rarity and pregnancy outcome.