diagnosis. The underlying etiology is not fully understood; however, it has been linked to Helicobacter pylori gastritis and gastric cancer. GX in the pediatric population is largely unreported in the literature. Because of the relative rarity, documentation with case reports are essential to provide as much data as possible to see if there is a correlation between GX and malignant potential in the pediatric population. Our group is reporting two cases, a 10-year-old male and a 7-year-old male, both who presented with chronic dysphagia, upper abdominal pain, nausea, vomiting, and loss of appetite. Upper endoscopies for both patients revealed small polypoid lesions located in the antrum with foamy histiocytes on histology, leading to the diagnosis of gastric xanthoma.]]>
Abdominal Pain ; Adult ; Appetite ; Child ; Deglutition Disorders ; Diagnosis ; Endoscopy ; Gastritis ; Helicobacter pylori ; Histiocytes ; Humans ; Incidental Findings ; Male ; Nausea ; Pediatrics ; Stomach Neoplasms ; Vomiting ; Xanthomatosis

Diffuse plane xanthoma (DPX) presents with symmetric yellow-orange plaques primarily on the neck, upper trunk, flexural folds, and the periorbital region. Based on serum lipid and lipoprotein levels, these xanthomas are classified as normolipemic or hyperlipoproteinemic DPX. Diffuse normolipemic plane xanthoma (DNPX) is a rare condition that is not well studied yet. It is associated with reticulo-endothelial diseases, particularly multiple myeloma and monoclonal gammopathy of unknown significance (MGUS). A 62-year-old woman developed yellowish hyperpigmented papules and diffuse patches in the medial canthal area of her neck. Based on a skin biopsy and laboratory analyses, she was diagnosed with DNPX associated with multiple myeloma. This diagnosis demonstrates that dermatological lesions should be carefully assessed as they may be the first manifestation of an underlying hematological disease. We report herein a rare case of diffuse plane xanthoma associated with multiple myeloma and review the relevant literature.
Biopsy ; Diagnosis ; Female ; Hematologic Diseases ; Humans ; Lipoproteins ; Middle Aged ; Multiple Myeloma ; Neck ; Paraproteinemias ; Skin ; Xanthomatosis

Female ; Granuloma ; diagnosis ; Humans ; Magnetic Resonance Imaging ; Sella Turcica ; pathology ; Xanthomatosis ; diagnosis

Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination revealed hypoechoic, swollen peripheral nerves with enlarged bilateral Achilles tendons. Since the ultrasonographic findings revealed peripheral involvement, the diagnosis of cerebrotendinous xanthomatosis was established after laboratory and genetic studies along with clinical findings.
Achilles Tendon ; Diagnosis ; Foot ; Humans ; Hypesthesia ; Peripheral Nerves ; Peripheral Nervous System ; Polyneuropathies* ; Ultrasonography* ; Xanthomatosis, Cerebrotendinous*

Oral verruciform xanthoma (OVX) is an uncommon lesion that appears on the oral mucosa. The aim of this paper was to discuss the probable etiopathogenesis of OVX in the hard palate, reinforcing the importance of including this lesion in the differential diagnosis of verrucous lesions. A 43-year-old male smoker presented with a painless lesion with a verrucous surface and erythematous spots on the hard palate. Excisional biopsy revealed oral mucosa consisting of hyperkeratosis, acanthosis, and elongated rete pegs. Subjacent connective tissue showed numerous foam cells with clear cytoplasm and pyknotic nucleus, negative on periodic acid-Schiff staining. Immunohistochemical analysis revealed foam cells positive for anti-CD68 antibody, while anti-KI-67 antibody was restricted to the basal layer of the oral epithelium. A final diagnosis of OVX was established. The patient showed no signs of recurrence after seven months of follow-up. Physical trauma and smoking habits can be directly related to the etiology of verruciform xanthoma because the lesion is chronic and inflammatory with slow growth, and sites if high trauma are more often affected by such a lesion. The hard palate is the second most commonly affected site, and local trauma caused by smoking can be a cause of this type of lesion.
Adult ; Biopsy ; Connective Tissue ; Cytoplasm ; Diagnosis ; Diagnosis, Differential ; Epithelium ; Foam Cells ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Male ; Mouth Mucosa ; Palate, Hard* ; Recurrence ; Smoke ; Smoking ; Xanthomatosis*

Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have been reported in patients with sitosterolemia, especially in children. Sitosterolemia is caused by increased intestinal absorption and decreased biliary excretion of sterols resulting from biallelic mutations in either ABCG5 or ABCG8, which encode the sterol efflux transporter ABCG5 and ABCG8. Patients with sitosterolemia show extreme phenotypic heterogeneity, ranging from almost asymptomatic individuals to those with severe hypercholesterolemia leading to accelerated atherosclerosis and premature cardiac death. Hematologic manifestations include hemolytic anemia with stomatocytosis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols and the sterol absorption inhibitor, ezetimibe. Foods rich in plant sterols include vegetable oils, wheat germs, nuts, seeds, avocado, shortening, margarine and chocolate. Hypercholesterolemia in patients with sitosterolemia is dramatically responsive to low cholesterol diet and bile acid sequestrants. Plant sterol assay should be performed in patients with normocholesterolemic xanthomas, hypercholesterolemia with unexpectedly good response to dietary modifications or to cholesterol absorption inhibitors, or hypercholesterolemia with poor response to statins, or those with unexplained hemolytic anemia and macrothrombocytopenia. Because prognosis can be improved by proper management, it is important to find these patients out and diagnose correctly. This review article aimed to summarize recent publications on sitosterolemia, and to suggest clinical indications for plant sterol assay.
Absorption ; Anemia, Hemolytic ; Atherosclerosis ; Bile ; Cacao ; Child ; Cholesterol ; Death ; Diagnosis* ; Diet ; Food Habits ; Hemorrhage ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Hypercholesterolemia ; Intestinal Absorption ; Margarine ; Nuts ; Persea ; Phytosterols ; Plant Oils ; Plants ; Population Characteristics ; Prognosis ; Splenomegaly ; Sterols ; Triticum ; Xanthomatosis

Cholecystitis ; diagnosis ; Diagnostic Errors ; Granuloma ; diagnosis ; Humans ; Male ; Middle Aged ; Xanthomatosis ; diagnosis

Adult ; Endoscopy ; Female ; Humans ; Xanthomatosis ; diagnosis

Adenocarcinoma ; metabolism ; pathology ; Atrophy ; Biomarkers ; metabolism ; Diagnosis, Differential ; Humans ; Male ; Prostate ; pathology ; Prostatic Diseases ; metabolism ; pathology ; Prostatic Hyperplasia ; metabolism ; pathology ; Prostatic Neoplasms ; metabolism ; pathology ; Prostatitis ; metabolism ; pathology ; Xanthomatosis ; metabolism ; pathology

Papular xanthoma is a rare normolipemic xanthomatous skin disease that primarily occurs in adults. While this rare disorder has been documented in children before, all but one case reported in the literature involved a normal lipid profile. The skin lesions of adult papular xanthoma appear to be persistent, whereas in children they generally self-heal within 1~5 years. Here, we describe a typical case of papular xanthoma in a 22-month-old boy who presented with numerous reddish-yellow papulonodules, 2~8 mm in diameter, mainly on the face, but also on the upper and lower extremities, and trunk, for 15 months. The lipid profile was normal, and histological studies showed a diffuse monomorphous infiltrate of foamy cells, with some Touton giant cells, in the dermis. The foamy cells stained positive for Cluster of Differentiation (CD) 68, and the Periodic Acid Schiff (PAS) stain was negative. These findings are consistent with the diagnosis of papular xanthoma.
Adult ; Child* ; Dermis ; Diagnosis ; Giant Cells ; Humans ; Infant ; Lower Extremity ; Male ; Periodic Acid ; Skin ; Skin Diseases ; Xanthomatosis*