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

Verruciform xanthoma (VX) is a rare, benign lesion that presents in the oral cavity, skin, or genital organs as a verrucous, papillomatous, or flat papule with varying colors. VX has indistinct clinical features, making histopathological examination necessary for a definitive diagnosis. Histologically, VX is characterized by parakeratosis, rete ridges with uniform depth, and an accumulation of the foam cells, which are also known as the "xanthoma cells". These foam cells test positive for antibodies, such as CD-68 and vimentin; it is thought that VX foam cells are derived from the monocyte-macrophage lineage, and that VX's pathogenic mechanism is partly related to an immune mechanism. Nevertheless, the pathogenesis of VX remains unclear. VX can be treated by surgical excision; other medical, chemical, and radiological treatments are not required postoperatively. Recurrence and malignant transformation of VX are rare. Two patients, each with a mass of unknown origin on the palatal gingiva, were presented at our clinic. Excisional biopsies of the masses were performed for a histological diagnosis after clinical and radiological examinations. Histological examination confirmed a diagnosis of VX in both cases.
Antibodies ; Biopsy ; Diagnosis ; Foam Cells ; Genitalia ; Gingiva* ; Humans ; Mouth ; Parakeratosis ; Recurrence ; Skin ; Vimentin ; Xanthomatosis*

We herein described a female newborn baby who, on the day of birth, exhibited widespread discrete reddish purple colored, round and slightly hyperkeratotic papules measuring about 4 mm in size, the biopsy specimen of which showed the histologic findings of histiocytosis X. The skin lesions resolved spontaneously within a week. The following diseases were discussed as possible diagnoses; histiocytosis X, generalized eruptive histiocytoma, juvenile xanthogranuloma, congenital self-healing reticulohistiocytosis and xanthoma disseminaturn. Since the current case didn't fit well any of them, we proposed a new descriptive term for this : Histiocytoma Papulosa Benigna Congenita.
Biopsy ; Diagnosis ; Female ; Histiocytoma* ; Histiocytosis, Langerhans-Cell ; Humans ; Infant, Newborn ; Parturition ; Skin ; Xanthogranuloma, Juvenile ; Xanthomatosis

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*