Article Text
Summary
This patient, known to have ectodermal dysplasia, was referred to the hospital to investigate the cause for his significant pedal oedema and hypoproteinaemia. Investigations ruled out protein loss from the kidney and there was no evidence of chronic liver disease. Protein-losing enteropathy became a diagnosis of exclusion. To investigate it further, he underwent an oral gastroduodenoscopy and a computed tomography scan of the abdomen, which showed an abnormal duodenal mucosa and extensive retroperitoneal lymphadenopathy. Biopsies confirmed this to be grade II follicular non-Hodgkin lymphoma. The lymphadenopathy was causing obstructive hydronephrosis, which required a nephrostomy. He received a course of steroids and chemotherapy. His condition, however, deteriorated and he died.
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BACKGROUND
The association of lymphoma with ectodermal dysplasia (ED) is rare, with only a handful of adult cases reported in the literature. Protein-losing enteropathy (PLE) is a rare manifestation of lymphoma. The cause for PLE in people with ED is usually secondary to gastrointestinal (GI) infection. This is the first reported case of a patient with ED and lymphoma, presenting with PLE. This case has been presented for its rare association and unique presentation.
CASE PRESENTATION
This middle-aged man was referred to the gastroenterology department to investigate hypoproteinaemia. He had ED, which was diagnosed many years ago. His skin was dry and he had coarse, dry scalp hair. His teeth were malformed. He did not have anhidrosis. He complained of ankle swelling. His other symptoms were mild dyspepsia, weight loss and loss of appetite. He opened his bowels two to three times a day and stools were well formed and he had no urinary symptoms. On physical examination he had ankle oedema. His systemic examination was unremarkable. He lived alone and managed quite well independently. His other past medical history included viral pericarditis and non-steroidal anti-inflammatory drug-induced renal failure. He had no recent travel history.
INVESTIGATIONS
He had an upper GI endoscopy where the duodenal mucosa appeared abnormal (see fig 1). The histology from this abnormal mucosa showed an increase in lymphoid cells in the lamina propria, including formation of some follicle structures (see fig 2). Immunohistochemistry showed that the follicles were positive for CD20, CD10 and for BCI 2 (see figs 3 and 4). It was suspected that this could be low-grade follicular lymphoma.
Oral gastroduodenoscopy showing abnormal duodenum.
Duodenal biopsy (haematoxylin and eosin stain), showing lymphoid follicle.
Duodenal biopsy, lymphoid follicle positive for bcl-2.
Duodenal biopsy, lymphoid follicle positive for CD10.
A CT scan of the abdomen and pelvis was performed. The CT scan showed confluent retroperitoneal adenopathy involving the mesentry. The adenopathy was obstructing both the ureters causing moderate hydronephrosis with the right kidney showing a fairly reduced thickness of parenchyma (see figs 5 and 6). He had bilateral pleural effusions and ascites. A CT-guided biopsy of the retroperitoneal lymph node was performed. The histology from this sample showed infiltration by a population of lymphoid cells positive for the B cell marker, CD20, and also positive for Bcl-2, CD10 and CD23. There was some CD30 positivity. Cyclin D1 was negative. There was a background population of small CD3-positive T cells. The appearances are those of non-Hodgkin lymphoma and were consistent with grade II follicular non-Hodgkin lymphoma (see figs 7–9). He also had a bone marrow aspirate from which the histology showed a reactive bone-marrow with no evidence of involvement by lymphoma.
CT abdomen, showing lymph nodes causing obstruction and hydronephrosis.
CT abdomen showing confluent retroperitoneal lymphadenopathy.
Core biopsy, haematoxylin and eosin stain.
Core biopsy, haematoxylin and eosin stain.
Core biopsy, immunohistology.
TREATMENT
He was treated for lymphoma with steroids and chemotherapy.
OUTCOME AND FOLLOW-UP
His renal function deteriorated and he required a nephrostomy for the marked obstructive hydronephrosis. His condition deteriorated and he died.
DISCUSSION
ED has a rare association with malignant lymphoma. In the literature we could find only three reported cases of B cell lymphoma associated with ED. The associations were with ectodermal ectodactyly cleft lip syndrome 3 (EEC 3). Our patient did not have EEC 3. The association is thought to be due to mutation in the p63 gene, which has a homology with the tumour suppressor gene p53. There is evidence of this gene being overexpressed in follicular lymphomas and also in other cancers such as lung cancer. However, in a few recent studies the role of p63 as a tumour suppressor gene has not been well shown.
PLE is a rare solo manifestation of lymphoma involving the small bowel. PLE in lymphoma is usually seen in association with primary intestinal lymphangiectesia or in coeliac disease and the lymphoma is usually T cell in origin. It can also be a feature of lymphosarcoma involving the gut. The duodenal biopsies in this patient showed no features of coeliac disease or lymphangiectesia. There are only very few cases in the literature showing B cell lymphoma presenting with PLE.
PLE is not a feature of patients with ED. However, it can develop secondary to immunodeficiencies and recurrent GI infections in patients with ED. There was no evidence of any GI infection in our patient.
This is the first case reported in the literature of a patient having ED and lymphoma presenting with PLE.
LEARNING POINTS
Patients with ED presenting with loss of weight, malaise should be investigated for an underlying lymphoma.
PLE is a rare manifestation of abdominal lymphoma.
A set of blood results of this patient
REFERENCES
Footnotes
Competing interests: None.