BANNAYAN SYNDROME—GENERALIZED LIPOMATOSIS ASSOCIATED WITH MEGALENCEPHALY AND MACRODACTYLY

This paper reports an autopsy case of a 5-year and 11-month-old girl with generalized subcutaneous lipomatosis, megalencephaly, and macrodactyly. Marked emaciation and poor prognosis were the characteristic findings of this case. We thought that this case was identical with a rare syndrome which was initially reported by B annayan in 1971. Autopsy disclosed diffuse lipomatosis in the thoracic and abdominal cavity, and infiltration of fat tissue to the pancreas. Hyperplasia of the small intestinal mucosa and Peyer's patch, and a pedunculated polyp of the sigmoid colon were the unique findings which could not be seen in the previously reported cases.     

Bannayan syndrome--generalized lipomatosis associated with megalencephaly and macrodactyly

This paper reports an autopsy case of a 5-year and 11-month-old girl with generalized subcutaneous lipomatosis, megalencephaly, and macrodactyly. Marked emaciation and poor prognosis were the characteristic findings of this case. We thought that this case was identical with a rare syndrome which was initially reported by BANNAYAN in 1971. Autopsy disclosed diffuse lipomatosis in the thoracic and abdominal cavity, and infiltration of fat tissue to the pancreas. Hyperplasia of the small intestinal mucosa and Peyer's patch, and a pedunculated polyp of the sigmoid colon were the unique findings which could not be seen in the previously reported cases.     

Adenolipoma of the thyroid gland

A case of rare fat-cell-containing adenoma, an adenolipoma, in the thyroid gland is reported. Previously documented cases are reviewed. Diffuse lipomatosis of the thyroid, amyloid goitre with adipose tissue, and the relationship between lipomatosis and adenolipoma are discussed.     

Benign symmetric lipomatosis in a 73-year-old man: a case report with a brief review of the literature

Benign symmetric lipomatosis (BSL) is a rare disease which is characterized by symmetric diffuse deposition of mature fat tissue and considered to originate in brown fat. A case of benign symmetric lipomatosis in a 73-year old man is presented. He has been treated for alcoholic abuse in mental hospitals several times and referred to our hospital for evaluation and treatment of the subcutaneous tumor in the neck, bilateral supraclavicular areas, bilateral upper arms, anterior chest wall, back, and the abdomen. Resected tumors had ill-defined margin and smooth surface. Histologically, the tumor was composed of diffuse proliferation of mature fat tissues, focal myxoid change and spindle cell proliferation. A histopathological diagnosis of lipomatosis with focal spindle cell proliferation was made. Although several hypotheses of this disease have been postulated, the present case suggested that the etiology of BSL is closely related with alcoholic abuse-induced metabolic disorder and deteriorated function of adipocytes due to specific location of tumor.     

Endoscopic retrograde pancreatographic findings of pancreatic lipomatosis

Pancreatic lipomatosis is characterized by fatty infiltration or replacement of the pancreas, and has been associated with many conditions. We recently experienced two cases of pancreatic lipomatosis in patients with pancreatic pseudocyst and a case of lipomatosis in diabetes mellitus. In these patients, abrupt obstruction of the main pancreatic duct with smooth tapering is a typical endoscopic retrograde pancreatography (ERP) finding of pancreatic lipomatosis and must be differentiated with pancreatic carcinoma.     

Extranodal lymphoplasmacytoid lymphoma (immunocytoma) presenting as small intestinal obstruction

A 57-year-old woman presented with intermittent symptoms of intestinal obstruction. Workup provided nondiagnostic radiologic studies. An exploratory laparotomy revealed a segmental dilatation in the proximal ileum, which showed diffuse thickening of the intestinal wall. Microscopic examination of the affected area disclosed a diffuse transmural infiltrate composed of small lymphocytes, mature plasma cells, and lymphoplasmacytoid cells in different stages of maturation associated with extracellular periodic acid-Schiff-positive material. In addition, serum protein electrophoresis showed a monoclonal immunoglobulin M kappa paraprotein. Postoperative workup did not demonstrate evidence of systemic involvement. The morphologic features and immunohistochemical and molecular analyses were consistent with lymphoplasmacytoid lymphoma (immunocytoma). We report an unusual case of primary extranodal immunocytoma involving the small intestine and discuss its clinicopathologic features.     

Co-existent massive renal replacement lipomatosis and xanthogranulomatous pyelonephritis--a case report

Renal replacement lipomatosis is a benign condition that may assume major clinical significance by producing pyelocalyceal deformities that may be mistaken for true renal masses. While the number of reported cases of renal replacement lipomatosis has been relatively small, this entity's prevalence is probably underestimated. We report a case of co-existent massive renal replacement lipomatosis and xanthogranulomatous pyelonephritis.     

Solitary neurofibroma of the mesentery: report of a case and review of the literature

Neurofibromas of the gastrointestinal tract are usually associated with neurofibromatosis type 1 (Nfl), or they are exclusive manifestations of the so-called "familial intestinal neurofibromatosis". Gastrointestinal neurofibromas can rarely occur as sporadic lesions in the jejunum and stomach, and only exceptionally in the mesentery. A critical review of the literature revealed that only seven cases of solitary neurofibromas (SNFs) of the mesentery (six in the ileal mesentery; one in the gastrocolic mesentery) have been reported in patients without stigmata of Nf1. We report the clinicopathologic features of an additional case of SNF of the ileal mesentery, incidentally found in a patient with an advanced gastric carcinoma. Since there is increasing evidence that some patients may have some features of Nf1, including dermal or nodular SNFs alone - limited to one or more body segments - (segmental Nf1), the possibility that SNFs of the mesentery may also represent a segmental manifestation of Nf1 is postulated.     

Segmental absence of intestinal musculature

Herein we describe a case of 33-year old woman repeatedly affected by incomplete ileus. Primary segmental absence of lamina muscularis propria has been found in this patient. Histological examination revealed areas of small intestine with total absence of muscularis propria followed by areas of the intestinal wall characterised by normal histological structure. No necrosis, inflammation, and fibrosis supporting the secondary origin of this lesion was found.     

A histotopographic study of the pancreas in lipomatosis]

Histotopographic investigations of the pancreas in lipomatosis were carried out and results obtained were collated with clinical data. It was established that diminution of the exocrine parenchyma in this case may be quite considerable-in some cases only 9.9-12% of its amount remained. Despite the considerable diminishing of the exocrine parenchyma in lipomatosis, no clinical manifestations of the disorder of the exocrine function may be observed. Experimental data showed that loss of the exocrine parenchyma of the pancreas may be compensated in other parts of the gastro-intestinal tract, in the stomach in particular.     

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associates classical manifestations of Cowden disease and congenital dysmorphisms including segmental overgrowth, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus reminiscent of the diagnosis of Proteus syndrome. We provide evidence in one of the two patients of a secondary molecular event: a loss of the PTEN wild-type allele, restricted to the atypical lesions that may explain an overgrowth of the affected tissues and the atypical phenotype. These data provide a new demonstration of the Happle hypothesis to explain some segmental exacerbation of autosomal-dominant disorders. They also show that a bi-allelic inactivation of PTEN can lead to developmental anomalies instead of malignant transformation, thus raising the question of the limitations of the tumor suppressive function in this gene. Finally, we suggest using the term 'SOLAMEN syndrome' (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation and Epidermal Nevus) in these peculiar situations to help the difficult distinction between the phenotype of our patients and Proteus syndrome.     

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNA^Lys-coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs.     

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)

Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1-3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS.     

Extradural lipomatosis presenting with paraplegia

An unusual case with spinal extradural lipomatosis in a non-obese and otherwise healthy man is reported. The patient presented with a history of weakness of legs which progressed to paraplegia over a 40 day period.     

Diffuse lipomatosis in the leg after poliomyelitis.

Two elderly women with gradual enlargement of the leg following paralytic poliomyelitis are reported. From the clinical appearance, plain radiograms and angiographic studies the enlargement was thought to be caused by adipose tissue. On exploration the muscles within the calfs were found to be entirely replaced by adipose tissue. Histological examination revealed diffuse lipomatosis involving skeletal muscle, fasciae and in one case even periosteum and bone. Peripheral nerves exhibited fibrosis and myelin degeneration and vessel walls showed unusual angioma-like changes. Since it is known from the literature that peripheral nerve lesions of different kinds can be followed by adipose overgrowth we believe that there is a pathogenetic relationship between poliomyelitis and the diffuse lipomatosis in the present cases.     

Toxic amebic colitis coexisting with intestinal tuberculosis

A patient with a fulminant amebic colitis coexisting with intestinal tuberculosis had a sudden onset of crampy abdominal pain, mucoid diarrhea, anorexia, fever and vomiting with signs of positive peritoneal irritation. Fulminant amebic colitis occurring together with intestinal tuberculosis is an uncommon event and may present an interesting patho-etiological relationship. The diagnosis was proven by histopathologic examination of resected specimen. Subtotal colectomy including segmental resection of ileum, about 80 cm in length, followed by exteriorization of both ends, was performed in an emergency basis. Despite all measures, the patient died on the sixth postoperative day. The exact relationship of fulminant amebic colitis and intestinal tuberculosis is speculative but the possibility of a cause and effect relationship exists. Fulminant amebic colitis may readily be confused with other types of inflammatory bowel disease, such as idiopathic ulcerative colitis, Crohn's disease, perforated diverticulitis and appendicitis with perforation. This report draws attention to the resurgence of tuberculosis and amebiasis in Korea, and the need for the high degree of caution required to detect it.     

CT differentiation of distal pancreas fat replacement and distal pancreas agenesis

We aimed to describe CT signs useful for differentiation of distal agenesis from distal or dorsal pancreas lipomatosis. Multidetector CT (MDCT) studies of five patients with distal pancreas agenesis (n = 2), distal lipomatosis (n = 1), distal short pancreas (n = 1), and distal pancreatectomy (n = 1) were retrospectively reviewed. Agenesis of dorsal pancreas can be diagnosed by the absence of body and tail of pancreas. In the absence of distal pancreas, distal pancreatic bed can be filled by stomach or intestine (dependent stomach or dependent intestine signs), which abut splenic vein. Same findings can be seen in patients with distal pancreatectomy, however, splenic vein is absent in these patients. In case of distal lipomatosis abundant fat tissue is observed anterior to splenic vein. Dependent stomach and/or dependent intestine signs on MDCT imaging can allow differentiation of distal pancreas agenesis from distal lipomatosis obviating further diagnostic studies.     

Segmental xanthomatosis of the small intestine. A case report and review of the literature

Intestinal xanthomatosis is a rare, nonneoplastic lesion that may involve the small bowel in a localized or generalized way. It most probably represents a nonspecific response to a previous injury. Most cases are not suspected clinically. They are diagnosed by endoscopy/biopsy, surgical specimen, or autopsy. It may be a cause of clinically significant obstruction and should be included in the differential diagnosis with other causes of bowel obstruction, particularly in patients with history of radiation therapy or chemotherapy. We report a case of segmental xanthomatosis involving 50 cm of the terminal ileum. The patient was a 22-year-old man who developed intestinal obstruction 16 years after radiation therapy for Ewing sarcoma of the right hip. A review of the English literature revealed that only rare cases have been previously reported.     

Metastatic colon cancer mimicking Crohn's disease

A 66-year-old Japanese woman presented with intestinal obstruction and right-sided hydronephrosis. Although upper gastrointestinal endoscopy demonstrated signet-ring cell gastric carcinoma, colonoscopy and barium enema study yielded findings mimicking Crohn's disease in the colon, that is, skipping longitudinal ulcer scarlike strictures, cobblestone appearance, segmental stricture, and pseudosacculations. After total gastrectomy and right-sided hemicolectomy, the final diagnosis of gastric cancer extensively involving the colon, and not of Crohn's disease complicating gastric cancer, was established. Pathologic examination showed that anaplastic cancer with exuberant desmoplastic reaction and infiltration along the mesenteric border principally accounted for the morphological similarities noted between Crohn's disease and metastatic colon cancer in this case. The findings in the present case, together with a review of the literature, suggest that metastatic colon cancer should be considered when Crohn-like colonic findings are encountered, not only in individuals with concurrent cancer in other sites but also in those with distant history of cancer.     

Lipomatous pleomorphic adenoma of the parotid

Lipomatous tumors rarely occur in the salivary glands. We report an unusual case of lipomatous pleomorphic adenoma in a 47-year-old man. The patient had no significant medical history and presented with a well circumscribed nodule measuring 3 cm in the right parotid. Histologically, the tumour was predominantly composed of sheets of mature fat cells. Rare myoepithelial cells and exceptional tubules were intermingled with the mature adipose tissue. One year after surgery the patient was alive without recurrence. In conclusion, it is a rare neoplasm who needs to be recognized and discussed with true fatty tumors and lipomatosis.