We report a case of cutis verticis gyrata-mental deficiency syndrome associated with generalized epidermal nevus. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, scaphocephaly and dysmorphic face with scanty scalp hair, hypertelorism, long palpebral fissure, low nasal bridge, hyperplasia of ala nasi, low-set ears with convoluted fold, and partial obstruction of the nasolacrimal ducts. Multiple convoluted folds and furrows on the scalp were extended to eyebrows and nose. Both lateral ventricle with periventricular leukomalacia were dilated markedly and the corpus callosum was hypoplastic on brain MRI. The nature of the yellowish brown colored elevated skin nevi on the whole body was consistent with systemic epidermal nevus by pathological study.
Brain ; Corpus Callosum ; Craniosynostoses ; Ear ; Epilepsy ; Eyebrows ; Hair ; Humans ; Hyperplasia ; Hypertelorism ; Infant, Newborn ; Intellectual Disability ; Lateral Ventricles ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Nasolacrimal Duct ; Nevus* ; Nose ; Scalp ; Skin

The association of gastric tubular adenoma and adenocarcinoma is already well known. Then, are those two pathologic lesions merely incidentally coexisting or does the one evolve to the other? That is a longstanding controversy. Nowadays, as is the case with the colonic tubular adenoma, the hypothesis that gastric tubular adenoma may be a precancerous lesion is generally accepted. However the direct evidences are rare. We report a clear case proving the potential of direct malignant transformation of gastric tubular adenorna through the 9-year close endoscopic follow-up. The developed cancer is well differentiated, surrounded with background tubular adenoma and limited to the submucosal layer.
Adenocarcinoma ; Adenoma* ; Colon ; Follow-Up Studies*

There is no single characteristic clinical or radiological feature to diagnose xanthogranulomatous pyelonephritis, so it makes accurate preoperative diagnosis difficult. In our case, the renal parenchyme of affected kidney was well preserved on excretory urogram. The abnormal finding was only a filling defect within the right upper pelvocalyceal system. Herein we report a case of xanthogranulomatous pyelonephritis in a 18 years old girl which was confused with renal pelvic tumor.
Adolescent ; Diagnosis ; Female ; Humans ; Kidney ; Pyelonephritis, Xanthogranulomatous*

Most renal cell carcinomas are solid but contain small cystic areas. Sometimes the cystic component predominates and such lesions are called cystic renal cell carcinomas. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of solid renal cell carcinoma. Multilocular cystic renal cell carcinoma is one form of cystic renal cell carcinoma variants and results from intrinsic multiloculated growth. A presumptive diagnosis of multilocular cystic renal cell carcinoma was made preoperatively in a 38-year-old woman and it was treated with radical nephrectomy, so we report this case with brief review of the literatures.
Adult ; Carcinoma, Renal Cell* ; Diagnosis ; Female ; Humans ; Nephrectomy

Since continent urinary diversion and bladder substitution after cystoprostatectomy have been offered as alternative to standard urinary diversion, increasing numbers of patients seek to avoid a wet stoma. So since 1988 we have used a pouch constructed from a combination of large and small bowel(Mainz pouch), which offers a low pressure reservoir of adequate capacity, antirefluxing ureteral reimplantation and continent reservoir. Initial applications of the Mainz pouch were for bladder augmentation after subtotal cystectomy and for continent urinary diversion. Current indications have been extended to complete bladder substitution after radical cystectomy with anastomosis of the pouch to the membranous urethra. A total or 15 patients underwent a Mainz pouch procedure ;6 for bladder augmentation, 8 for continent urinary diversion and 1 for total bladder substitution after radical cystectomy. All bladder augmentation cases, 4 of 8 diversion cases and substitution case are completely dry day and night. There are no significant perioperative morbidity and mortality.
Cystectomy ; Humans ; Mortality ; Replantation ; Ureter ; Urethra ; Urinary Bladder ; Urinary Diversion

Deletions of 6q chromosome are rare. Although 60 cases of deletions of the long arm of chromosome 6 have been reported in the literature, there was no reported case in Korea. We report a 9 year old boy with a deletion 46,XY,del(6)(q16), who presented growth and developmental delay, brachycephaly, minor facial dysmorphism, low-set ear, short 5th finger with clinodactyly, abnormal palmar creases, cryptorchidism and small feet. Brain MRI showed arachnoid cyst on the temporal lobe with mass effect and dilatation of the lateral ventricle which are consistent with brain atropy. Clinical data were analyzed in comparison with patients reported in the literature.
Arachnoid* ; Arm* ; Brain* ; Child ; Chromosomes, Human, Pair 6* ; Craniosynostoses ; Cryptorchidism ; Dilatation ; Ear ; Fingers ; Foot ; Growth and Development ; Humans ; Korea ; Lateral Ventricles ; Magnetic Resonance Imaging ; Male ; Temporal Lobe

No abstract available.
Neck* ; Nevus* ; Sebaceous Glands*

No abstract available.
Dermatomyositis* ; Lymphoma, Follicular*

No abstract available.
Acanthoma* ; Nose*

No abstract available.
Dermoscopy* ; Diagnosis