Sahel Medical Journal

CASE REPORT
Year
: 2015  |  Volume : 18  |  Issue : 2  |  Page : 83--86

Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleed


Ishrat H Dar1, Samia R Mir1, Showkat H Dar2,  
1 Department of Medicine, Government Medical College, Srinagar, Jammu and Kashmir, India
2 Department of Medicine, District Hospital Anantnag, Anantnag, Jammu and Kashmir, India

Correspondence Address:
Dr. Ishrat H Dar
Department of Medicine, Government Medical College, Srinagar - 190 010, Jammu and Kashmir
India

Abstract

Causes of obscure gastrointestinal (GI) bleed are diverse and rare. The most common cause for GI bleeding of small bowel origin is angiodysplasia, followed by tumors of the small intestine, and various other causes, including small bowel ulcers and aortienteric fistulas. Pseudoxanthoma elasticum (PXE) is a rare cause of GI bleed. It is an inherited elastic tissue disorder with degeneration of elastic fibers involving mainly skin, eyes and the cardiovascular system. Upper GI hemorrhage occurs in 13% of cases and is often resistant to nonsurgical methods of treatment. Presented herein is a case of GI bleed in a 65-year-old woman who had PXE and hyperplastic polyps in the stomach.



How to cite this article:
Dar IH, Mir SR, Dar SH. Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleed.Sahel Med J 2015;18:83-86


How to cite this URL:
Dar IH, Mir SR, Dar SH. Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleed. Sahel Med J [serial online] 2015 [cited 2019 Nov 12 ];18:83-86
Available from: http://www.smjonline.org/text.asp?2015/18/2/83/160808


Full Text

 INTRODUCTION



Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable phenotypic variability. The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE largely depends on the extent of extracutaneous organ involvement early recognition, intervention and lifestyle adjustments are important to reduce morbidity. Firstdegree family members should be carefully examined for any cutaneous or ophthalmologic features of PXE. All obscure gastrointestinal bleeds should be evaluated carefully for PXE.

 Case Report



A 65-year-old hypertensive female was admitted to our hospital for evaluation of anemia and dyspeptic symptoms with passage of occasional black tarry stool without any history of frank bleeding per rectum or history of intake of iron or bismuth salts. General physical examination revealed a pale thinly built woman with fine wrinkled facial creases [Figure 1]. Appearance of the skin in the flexural, inguinal, and periumblical areas was rough, of reticulated plaque type with loosely hanging folds [Figure 2]a and [Figure 2]b. Chest, cardiovascular, and the central nervous system were normal. Investigations revealed hemoglobin of 5.3 g%, normal total leukocyte and platelet counts with a reticulocyte count of 3.5%. Iron and ferritin studies were consistent with iron deficiency anemia. Liver functions, kidney functions, coagulation profile, blood sugar, and thyroid functions were normal. X-ray of the chest and ultrasonography of the abdomen were normal. Upper gastrointestinal (GI) endoscopy revealed a normal mucosa with two polyps in the stomach one below the gastroesophageal junction along the lesser curve measuring 1.5 cm [Figure 3] and another in the mid body measuring 0.5 cm. Both the polyps were snared, and the larger one was sent for histopathological examination that revealed features of a hyperplasic polyp [Figure 4] with extensive inflammation without evidence of malignancy. Full length colonoscopy was normal. A biopsy of the involved skin and blood vessels of the abdomen showed swollen, clumped, thickened, broken and frayed elastic tissue throughout the entire cutis with deposits of calcium. Fundus examination revealed angiod streaks. Coronary angiography done as a part of the workup for involvement of other systems was normal. A diagnosis of pseudoxanthoma elasticum (PXE) with upper GI bleed secondary to PXE was made.{Figure 1}{Figure 2}{Figure 3}{Figure 4}

 DISCUSSION



Pseudoxanthoma elasticum is an inherited multisystem disorder affecting primarily the elastic tissue involving the skin, Bruch's elastic membrane of the eyes and the vascular system. PXE is an uncommon disease and was first described by Balzer. [1] It was named by a dermatologist Darrier and is often called as the Darrier's disease because of its superficial resemblance of the lesions to xanthomata, and the elastic tissue of the cutis is frayed and clumped. [2] Skin involvement is the most common manifestation and typical yellowish papules which have a tendency to form plaques is found most commonly on the neck, axillae, anterior abdominal wall and the thighs. Skin appears loose and of reticulated pattern which can be easily raised into folds. The estimated prevalence of PXE is 1 in 70,000-100,000 with a 2:1 female preponderance and the defect has been mapped to the ABCC6 gene on chromosome 16p13.1; the gene encodes for the cellular transport protein ABCC6/MRP6 giving rise to the concept of PXE as a systemic metabolic disorder rather than a purely structural disorder of the connective tissue. [3],[4]

The pathological changes were considered to be limited to the skin until 1929 when Gronblad and Strandberg separately observed the association of PXE with angiod streaks of the fundus. [5],[6] Carlborg reported that patients with PXE have high incidence of diminished peripheral arterial pulsation and calcified peripheral vessels which were attributed to degeneration of elastic tissue and altered pulse waves rather than due to obstruction of arterial lumina. [7] The histopathological features of skin lesions are mineralization and fragmentation of the elastic fibers with similar fiber changes occurring in the blood vessels, Bruch's membrane of the eye and other organs. [3]

Autopsy reports of a number of patients who died of GI bleeding before the advent of endoscopy have documented degenerated elastic tissue of the stomach, duodenum, jejunum and ileum and even in the cerebral vessels have been reported in literature. [7],[8],[9]

Gastrointestinal bleeding usually recurrent and of gastric origin reportedly occurs in 13% of affected patients and the ruptures are usually thought to occur from degeneration of elastic fibers in the arterial walls. [10] Reinertson and Farber described a case of PXE with GI bleeding in a 17-year-old girl with recurrent hematemesis from the age of 10 years who was evaluated for anemia with (normal upper and lower GI endoscopies, normal liver, kidney, and coagulation profile) was found to have bilateral symmetrical papular lesions of the skin on the neck, in the axillae and antecubital spaces which on histopathological examination were consistent with PXE. [11] Kundrotas et al. reports a case of GI bleeding in a patient who was proved to have PXE. Degenerative changes of the gastric arterioles occurring over a 26-year-old period have been documented with internal elastic lamellar degeneration and dystrophic calcification and ultrastructurally of an abnormal collagen fiber, which can be a direct cause of GI bleeding. [12] Yamamura et al. describes a case of PXE with upper GI hemorrhage in a 44-year-old woman who suffered from hematemesis with the bleeding point located at the upper body of the stomach which was tried to coagulate with endoscopic alcohol injection and in whom operative hemostasis by over sewing under gastrostomy were unsuccessful was subjected to total gastrectomy. Histological examination of the stomach revealed fragmentation of the elastic fiber in the internal lamina of the arteriole and degeneration of the muscle layer in all specimens from different regions of the stomach. [13] Bonotto et al. reports a case of recurrent gastric hemorrhage in a young patient with PXE who was treated by total gastrectomy and in this case also the diagnosis was made after surgery by biopsy of skin lesions on the neck. [10] Antiga et al. describe an unusual case of GI bleeding in a 12-year-old girl who had suffered from recurrent hematemesis and melena with normal laboratory and endoscopic evaluation. Closer observation and evaluation of this patient showed soft yellowish papules joined into a plaque on her lumbar region which on histopathology proved to be a case of PXE. [14]

Pseudoxanthoma elasticum is listed as a common cause of obscure GI bleed and is often resistant to nonsurgical methods of treatment. When viewed endoscopically the stomach may appear to be normal, have a distinctive yellow "cobblestone" appearance or exhibit raised nodular submucosal lesions as in our patient. Patients with GI bleeding of unknown origin must be carefully examined physically and observed not only for the typical yellowish papules of PXE but for signs of other skin diseases that may have GI involvement and cause hematemesis. The most common lesions, include melanoma with GI metastasis, blue rubber-bleb nevus syndrome that often affects internal organs along with the skin and mucosae, Kaposi's sarcoma and visceral neurofibromatosis (von Recklinghausen's disease). [14],[15]

Patients with PXE often have a normal life span that depends on the extent of systemic involvement. The most potential serious complication is accelerated atherosclerosis with atherosclerotic heart disease, and hypertension reported frequently in patients as young as 4 years of age but visual complications affect the quality of life the most. Early diagnosis is important to prevent the pathological changes most of which are irreversible, but to ensure and minimize risk of complications. Retinal hemorrhage should be prevented by photocoagulation, cardiovascular risk factors addressed and platelet inhibitors and anticoagulants avoided. Cosmetic surgery can be done in case the skin lesions cause disfiguring particularly in young patients. [3],[4],[16] Surgery is lifesaving and often total gastrectomy is done as depicted by various case reports to prevent mortality. Our patient who was elderly refused surgery and preferred conservative management, is doing well and continues to be on regular follow-up.

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