Adult ; Endoscopy ; Female ; Humans ; Xanthomatosis ; diagnosis

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.
Adult ; Ataxia ; Atherosclerosis ; Cataract ; Cholestanol ; Cholestanols ; Cholesterol ; Diagnosis ; Female ; Humans ; Korea ; Plasma ; Spinal Cord ; Tendons ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

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

Cystitis ; diagnosis ; Cystoscopy ; methods ; Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Tomography, X-Ray Computed ; Xanthomatosis ; diagnosis

OBJECTIVETo explore the diagnosis and treatment of xanthogranulomatous prostatitis.

METHODSA 75-year-old man presented with a 3-month history of difficult urination and frequent micturition, which was exacerbated for 2 days. Digital rectal examination indicated an enlarged prostate size of II degrees with hard texture but no tenderness. Serum total PSA was 172.5 microg/L. TRUS revealed 200 ml of post-micturition residual urine, thickened bladder wall, prostate size of 4.3 cm x 3.8 cm x 5.0 cm and no isochrones. MRI showed an enlarged prostate gland, with marked enlargement of the central zones and low-signal intensity of the peripheral gland, part of the prostate gland protruding to the bladder with no clear dividing line. It was diagnosed as prostate cancer initially, and confirmed by needle biopsy.

RESULTSHistopathological examination revealed large numbers of "foamy macrophages" in the lesion, with a few multinucleated giant cells, leukocytes, mononuclear, plasmocytes and fibroplasia. Immunohistochemistry showed CD68 (+) and PSA (-). The patient was treated with oral Tamsulosin and glucocorticoid and by temporary catheterization, and followed up for 20 months. Urination symptoms began to alleviate and serum PSA to decrease at 4 months. The PSA level was 9.2 microg/L at 13 months and 3.6 microg/L at 17 months.

CONCLUSIONXanthogranulomatous prostatitis is a rare clinically, which can be confirmed by histopathological examination. It is treated mainly by supportive therapy and, for the cases with severe lower urinary tract obstruction, TURP can be employed. Follow-up must be performed by possible examination of PSA and necessary needle biopsy of the prostate.

Aged ; Humans ; Male ; Prostatitis ; diagnosis ; pathology ; therapy ; Xanthomatosis ; diagnosis ; pathology ; therapy

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

We report two cases of hyperlipoproteinernia(HLP) with various cutaneous xanthomas. Case 1 was a 12-year-old girl, who had tuberous, tendinous, and plane cutaneous xanthomas and corneal arcus of the left eye. Case 2 was a 40-year-old man, who had tuberous, eruptive, and plane cutaneous xanthomas. Serum lipid and lipoprotein analysis reveoled patterns of Type IIa HLP in case 1 and, of Type IIb HLP, in case 2. They have been treated with diet control and hypolipidemic drugs and are under our continuing medical supervision.
Adult ; Child ; Female ; Humans ; Hyperlipoproteinemia Type II/diagnosis* ; Hyperlipoproteinemia Type II/drug therapy* ; Hypolipidemic Agents/therapeutic use* ; Lipoproteins ; Man ; Xanthomatosis/diagnosis ; Xanthomatosis/drug therapy

Leukoplakia is a fixed, predominantly white-lesion of the mucosa. It is most often seen on the oral and anogenital mucosa. Leukoplakia should be biopsied to determine the true histopathologic diagnosis. Verruciform xanthoma is composed of asymptomatic, usually solitary, flat plaques or warty lesions. They may vary in color from gray to pink or yellow. Its pathogenesis is still unknown and usual site is the oral cavity. Histopathologically, it is characterized by verrucous epidermal hyperplasia with aggregates of foam cells in the dermal papillae. A review of literature indicated that verruciform xanthoma presenting as a whitish plaque on the lower lip was very rare. We describe a 70-year-old woman with verruciform xanthoma who presented with a whitish plaque on her lower lip.
Aged ; Diagnosis ; Female ; Foam Cells ; Humans ; Hyperplasia ; Leukoplakia* ; Lip* ; Mouth ; Mucous Membrane ; Xanthomatosis*

Verruciform xanthoma is an uncommon benign lesion. The most common presentation occurs in the oral cavity; however, it has also been described in other sites, especially the penis. Herein is reported the first case of verruciform xanthoma of the penis in China, the fourteenth case in the literature. Clinically, genital verruciform xanthoma is often confuses with papillomas, verrucous carcinomas and squamous cell carcinomas, and therefore a histopathological diagnosis is necessary.
Carcinoma, Squamous Cell ; Carcinoma, Verrucous ; China ; Diagnosis ; Male ; Mouth ; Papilloma ; Penis* ; Xanthomatosis*

Atypical fibroxanthoma is an uncommon spindle cell tumor that has a clinically benign course despite the presence of bizarre xanthoma cells. A 90-year-old female presented with a 2-month history of an ulcerative plaque on the right cheek. The initial punch biopsy revealed a benign histological appearance with prominent xanthomatous cells, but the specimen excised afterwards showed malignant features with a spindle and epithelioid cell proliferation with pleomorphism and atypia. The tumor cells stained positively for vimentin and CD68, they were partially positive for CD99 and CD10 and they were negative for CD34, S100, p63, desmin and actin. We report here on a case of atypical fibroxanthoma masquerading as xanthogranuloma.
Actins ; Aged, 80 and over ; Biopsy ; Cheek ; Desmin ; Diagnosis, Differential ; Epithelioid Cells ; Female ; Humans ; Ulcer ; Vimentin ; Xanthomatosis