Darier's diseaae is relatively rare dyskeratotic and inheritable dermatoses of an. autosomal irregular dominant gene. The authors observed one case of typical Dariers disease with the family hietory of three generatian of autoaomal daminant trait. 22 year-oid patient we observed has had the generalized pruritus and dark dirty and warty patehes distribnted almost on the whole skin surface especially on trunk, back and face for about 10 years. Histopathologically, the lesion showed lacunae, corps ronds and grains which are compatible with typical Dariers disease.
Edible Grain ; Darier Disease* ; Genes, Dominant ; Humans ; Pruritus ; Skin ; Skin Diseases

Verrucous hemangioma is congenital hemangioma, which is structural varients of capillary or cavernous hemangioma. And it is vascular malformation, in which reactive epidermal acanthosis, papillomatosis, hyperkeratosis develope secondarily. Though foreign anthors have reported some cases of this disease, it is rare hemangioma and it never has been reported in Korea. This 13 year-old, healthy female patient has erythematous patchs on her left knee at birth. It grew become coin to egg sized. Because of verrcous iuflammatory reaction of irregular verrucous surfaced plague, the lesion become necrotic thick crusty plague with severe offensive odor and patient complained of severe pain & motion limitation on her left knee. Urinalysis, C B C, chest PA were within normal limit. PPD test was negative. Lt. knee AP & lat. revealed. Marked destroyed soft tissue on anterior portion of Lt. knee and no bony pathological changes were demonstrable. Histopathologica.11y, hyperkeratosis, parakeratosis, acanthosis, papillomatosis in the epidermis and numerous capillary lumina, capillary dilatation, proliferation of endothelial cells and mild infiltration of inflammatory cells in the Dermis. And fibrosis in the Dermis & Subcutaneous tissue are seen.
Adolescent ; Capillaries ; Dermis ; Dilatation ; Endothelial Cells ; Epidermis ; Female ; Fibrosis ; Hemangioma* ; Hemangioma, Cavernous ; Humans ; Knee ; Korea ; Numismatics ; Odors ; Ovum ; Papilloma ; Parakeratosis ; Parturition ; Plague ; Subcutaneous Tissue ; Thorax ; Urinalysis ; Vascular Malformations

Juvenile Xan anuloma is granulomatous, benign disseminated Xanthomatous disease, which i r cytosis of unknown origin, due to lipid, metabolism disturbance. Spontaneous remi. is possible authors have reported some cases of JXG involving only skin or combii extracutaneous lesions, In our country, cases involving onIy skin have bcen reported. This I-year-old norered healthy male baby has yellowish brown coloxed pinhead to rice sizeci gers of well defined. round, dome shaped smooth surface in face, trunk, lower abdomen without any subjective symptomes. Serum lipid level i iid chest p-A,urinalysis, CBC, L.F.T. are normal. Family history showed ific finding and physical examina.tion shows nothing remarkable except for skeen lesions. EIistopathologically, hi;tiocyte, lymphocyte, eosinophile, foam cell, foreign body giant cell, typical Toutor giant cell are seen.
Abdomen ; Eosinophils ; Foam Cells ; Giant Cells ; Giant Cells, Foreign-Body ; Humans ; Lymphocytes ; Male ; Metabolism ; Skin ; Thorax ; Xanthogranuloma, Juvenile*

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.
Asymptomatic Diseases ; Fatigue ; Humans ; Infant ; Infant, Newborn ; Leucine ; Metabolism ; Mothers ; Muscular Diseases ; Neonatal Screening* ; Phenotype ; Tandem Mass Spectrometry

No abstract available.
Prune Belly Syndrome*

Hemangiopericycic maningioma is clinically and pathologically similar to peripheral Hemangiopericytoma and now tends to be terned as hemangiopericytoma of central nervous system. The authors studied 3 cases of hemangiopericytic meningioma obtained from 3 patients, 1 case of meningotheliomatous meningioma, angioblastic meningioma and transitional meningioma, and 2 cases of peripheral hemangiopericytoma, which had operated from November 1988 to May 1989 at the department of neurosurgery, Pusan Inje University Hospital. The authors analysed and compared the immunohistochemical finding and light microscopic apearance. The results obtained were summarized as follows; 1) Classic maningioma (meningotheliomatous meningioma, transitional meningioma and angioblastic meningioma) shows reactivity to both EMA and vimentin. 2) Hemangiopercicytic meningioma and peripheral hemangiopericytoma are reactive only to vimentin, so the two tumors are suggested as same type of tumor. 3) One of 3 cases of hemangiopericytic meningioma shows whorling and interlacing bundles of spindle cells, the peculiar light microscopic features of transitional meningioma, suggesting transitional or mixed form of hemangiopericytic meningioma and transitional meningioma.
Meningioma

Hemangiopericycic maningioma is clinically and pathologically similar to peripheral Hemangiopericytoma and now tends to be terned as hemangiopericytoma of central nervous system. The authors studied 3 cases of hemangiopericytic meningioma obtained from 3 patients, 1 case of meningotheliomatous meningioma, angioblastic meningioma and transitional meningioma, and 2 cases of peripheral hemangiopericytoma, which had operated from November 1988 to May 1989 at the department of neurosurgery, Pusan Inje University Hospital. The authors analysed and compared the immunohistochemical finding and light microscopic apearance. The results obtained were summarized as follows; 1) Classic maningioma (meningotheliomatous meningioma, transitional meningioma and angioblastic meningioma) shows reactivity to both EMA and vimentin. 2) Hemangiopercicytic meningioma and peripheral hemangiopericytoma are reactive only to vimentin, so the two tumors are suggested as same type of tumor. 3) One of 3 cases of hemangiopericytic meningioma shows whorling and interlacing bundles of spindle cells, the peculiar light microscopic features of transitional meningioma, suggesting transitional or mixed form of hemangiopericytic meningioma and transitional meningioma.
Meningioma

No abstract available.
Humans ; Infant, Newborn*

Hypodipsic hypernatremia is characterized by chronic or recurrent episodes of severe hypernatermia associated with dehydration and a lack of thirst. This constellation of deficits suggests that the syndrome is due to hypodipsia of destruction of the hypothalamic osmoreceptors that regulate thirst and ADH secretion. We report a child with abnormalities of the central nervous system who had hypernatremia and a lack of thirst without detectable abnormalities in the osmoregulation of ADH secretion. The patient was a 11 month old female and her chief complaints were poor oral intake and weight gain. There were recurrent hypernatremia with hyperosmosis and normal level of plasma ADH. With intravenous rehydratin, oral intake was improved and plasma sodium level decreased.
Central Nervous System ; Child ; Dehydration ; Female ; Humans ; Hypernatremia* ; Infant ; Osmoregulation ; Plasma ; Sodium ; Thirst ; Weight Gain

No abstract available.
Ectromelia*