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Saint Vincents Hospital and Medical Center New York, NY
10011
University of Medicine, Dentistry of New Jersey Hospital Newark,
NJ
In 1959, Hermansky and Pudlak described a syndrome with a triad of albinism, platelet dysfunction, and accumulation of a ceroidlike pigment in tissues [1]. The occurrence of pulmonary fibrosis as part of this syndrome was emphasized by Davies and Tuddenham in 1976 [2]. Granulomatous colitis had been an unrecognized complication of this syndrome until 1980 when Schinella et al. [3] for the first time outlined the clinical and pathologic characteristics of colitis in patients with Hermansky-Pudlak syndrome.
We recently were involved in the treatment of a 38-year-old woman who presented with recurrent episodes of abdominal pain and bloody diarrhea. She underwent numerous abdominal surgical procedures, including a total colectomy, without relief of symptoms. The patient also gave a history of occasional dyspnea and frequent bruising from minor trauma. Family history was significant for two siblings with albinism. The elder brother recently died awaiting lung transplantation and a younger sister had recurrent attacks of colitis. On physical examination, the patient had unpigmented skin. Ocular examination showed a horizontal nystagmus and no pigmentation of the iris. The chest was clear and the abdomen was diffusely tender without guarding, rigidity, or rebound tenderness. Bowel sounds were hyperactive. Baseline laboratory values were within normal range, including a normal platelet count. A frontal radiograph of the chest showed bilaterally prominent lung markings (Fig. 1A). High-resolution CT confirmed interstitial lung disease (Fig. 1B). An abdominal radiograph showed hepatomegaly with a nonobstructive bowel gas pattern. A small-bowel series revealed a focal area of narrowing with mucosal ulceration in the proximal ileum (Fig. 1C). Contrast-enhanced CT of the abdomen and pelvis showed thick-walled small-bowel loops without evidence of obstruction or perforation (Fig. 1D). The patient subsequently underwent small-bowel resection with creation of an ileal stoma. Histopathology of the resected small-bowel specimen revealed a granulomatous change similar to Crohn's disease.
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Hermansky-Pudlak syndrome is a rare autosomal-recessive disorder consisting of the classic triad of oculocutaneous tyrosinase-positive albinism (skin pigmentation increases with exposure to sunlight), bleeding diathesis resulting from platelet dysfunction (platelet count is normal), and ceroid deposition within the mononuclear phagocytic system. Ceroid is a complex chromolipid derived from oxidation of unsaturated fatty acids. Cellular dysfunction after deposition of ceroid contributes to the pathogenesis and widespread manifestations of this syndrome. The effect is most marked on immune system cells, suppression of which further contributes to the progress of the disease.
Besides the reticuloendothelial system, deposits are also found in the endothelium and in the interstitium of the intestinal, oral, and renal tubular epithelium [4]. Pulmonary fibrosis and granulomatous colitis are now recognized complications of Hermansky-Pudlak syndrome. Review of the literature suggests their manifestations and eventual progress can be markedly variable and strongly influence the ultimate survival of patients. In general, bowel involvement manifests in the first and second decades, whereas pulmonary symptoms develop in late second and third decades. Ceroid deposition in the gastrointestinal tract often is associated with inflammation-producing lesions resembling inflammatory bowel disease [5]. Patients with these lesions are often labeled with the initial diagnosis of Crohn's disease, ulcerative colitis, or some other form of inflammatory bowel disease. Because of their similarity in clinical presentations, physicians have used the same initial therapeutic approach for this condition. Patients are started on acetylsalicylic acid-related compounds with disastrous consequences because these medications can cause catastrophic gastrointestinal bleeding as a result of underlying preexistent platelet dysfunction in patients with Hermansky-Pudlak syndrome. Steroids and vitamin E therapy have been tried, but relief often requires extensive surgical resection of bowel. Pulmonary involvement, often leading to the need for lung transplantation, usually is progressive. The only prevention at this time is genetic counseling. Radiologists should be familiar with the clinical scenario and the imaging features of Hermansky-Pudlak syndrome because early recognition of this syndrome is crucial to limit the associated high morbidity and mortality.
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  Y. M. Berkmen and B. M. Dsouza Case 124: Hermansky-Pudlak Syndrome Radiology, November 1, 2007; 245(2): 595 - 599. [Full Text] [PDF]
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