Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman.
Pseudoxantoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. A twenty-eight-year-old female has presented to emergency unit with the complaint of gastrointestinal hemorrhage. This patient, who had been monitored in the gastroenterology clinic more than 10 times in the past 8 years, noted a repetitive hemorrhage during her previous pregnancy in her history. The examination of the patient revealed the following signs and symptoms: atrophy in the epithelium of the retina pigment; typical angioid streaks and peau d'orange finding in the fundus; thinning of the retinal nerve fiber in OCT (optic coherence tomography); bilateral and reticular papillary lesions with yellowish-color in the neck region (plucked chicken appearance); presence of bleeding foci in fundus; and nephrocalcinosis in kidneys. In light of these symptoms, the patient was diagnosed with pseudoxantoma elasticum. Skin biopsy confirmed the pseudoxantoma elasticum diagnose. PXE is an uncommon, hereditary disease. Early diagnosis of pseudoxantoma elasticum cases, is important for minimalizing systemic complications and informing the other family members through genetic counseling.
Dicle University School of Medicine, Department of Gastroenterology, Diyarbakir, Turkey. vegoral@hotmail.com
Vedat
V
Goral
Dogan
D
Demir
Yekta
Y
Tuzun
Ugur
U
Keklikci
Huseyin
H
Buyukbayram
Kadim
K
Bayan
Asur
A
Uyar
D000328:Adult; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D006801:Humans; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000209:etiology*; D011561:Pseudoxanthoma Elasticum / Q000150:complications*