Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on the short arm of chromosome IS was silver-negative with Ag-NOR (nucleolus organizer regions) stain, but stained darkly with C-banding method like the distal heterochromatic segment of the Y long arm. Fluorescence in situ hybridization (FISH) using two DNA probes (DYZ1 and D15Zl) showed a red fluorescent signal on 15p+ In addition to a green chromosome 15 centromere signal, confirming 15p to be from the distal Yq heterochromatin.
Arm ; Centromere ; Chromosomes, Human, Pair 15 ; DNA Probes ; Fetus ; Fluorescence ; Heterochromatin ; Humans ; In Situ Hybridization ; Male ; Mothers ; Pregnancy

Endodermal sinus tumors are an uncommon malignancy in children and occur most often in the gonads and sacrococcygeal region. In these locations, thy are found as primary tumors ; in teratoma they form part of the malignant component. We present CT and MR imaging findings in two cases of endodermal sinus tumor occurring after the resection of a mature benign cystic sacrococcygeal teratoma during the neonatal period. Awareness of the transformation of a benign cystic teratoma to a different type of malignant germ cell tumor may be helpful in the evaluation of sacrococcygeal masses.
Child ; Endoderm* ; Endodermal Sinus Tumor* ; Gonads ; Humans ; Magnetic Resonance Imaging ; Neoplasms, Germ Cell and Embryonal ; Sacrococcygeal Region ; Teratoma*

Endodermal sinus tumors are an uncommon malignancy in children and occur most often in the gonads and sacrococcygeal region. In these locations, thy are found as primary tumors ; in teratoma they form part of the malignant component. We present CT and MR imaging findings in two cases of endodermal sinus tumor occurring after the resection of a mature benign cystic sacrococcygeal teratoma during the neonatal period. Awareness of the transformation of a benign cystic teratoma to a different type of malignant germ cell tumor may be helpful in the evaluation of sacrococcygeal masses.
Child ; Endoderm* ; Endodermal Sinus Tumor* ; Gonads ; Humans ; Magnetic Resonance Imaging ; Neoplasms, Germ Cell and Embryonal ; Sacrococcygeal Region ; Teratoma*

No abstract available.
Birth Certificates* ; Parturition*

The clinical and pathological features of a paraganglioma arising in the cauda equina is described and compared with previous reports. The right microscopic fetures were similar to those of paragangliomas from other sites, with a 'Zellballen' pattern of cells containing arzyrophil granules. Immunohistocytochemical stains for neurone specific enolase, S-100 protein, cytokeratin were positive, but stains for glial fibrillary acidic protein were negative. Electron microscopy showed densely staining membrane-bound granules, cilia like structures and fibros bodies in the cytoplasm. The last two features only occur in paragangliomas from this site. The pathological findings suggest that paragangliomas in this site arise from pre-existing paraganglia, possibly of the visceral autonomic group.

Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder that is generally lethal to males and almost always leads to death in utero. This disorder is a genodermatosis with characteristic cutaneous lesions and manifestations affecting the eyes, teeth, hair, and central nervous system. Genodermatosis is a hereditary disease caused by mutations in the nuclear factor-kappa B essential modulator gene mapped to chromosome Xq28. This gene encodes a variety of cytokines and chemokine regulators and is indispensable for protecting cells from tumor necrosis factor-induced apoptosis. Here we describe a case of male newborn with vesiculobullous cutaneous lesions over the left thigh and leg. We first considered the cutaneous lesions a skin infection, as they improved with intravenous antibiotics. However, recurrence and the need for repeated hospitali zations made us consider the differential diagnosis of IP, for which we performed a skin biopsy and chromosome analysis. The histology results were compatible with IP, that is, eosinophilic infiltration in the dermis and epidermis, and individual cell dyskeratinization. The chromosome analysis result was a normal 46, XY karyotype.Here we report the case of a male newborn with IP that manifested as multiple vesiculobullous skin lesions and was initially misdiagnosed as a recurrent skin infection.

No abstract available.
Epidemiologic Studies* ; Mumps*

Prurigo pigmentosa(PP) is a rare dermatosis with an unknown cause characterized by intensely pruritic papules that resolve with reticulate pigmentation. It is a disease entitity commonly reported in Japan but seemingly rare in other parts of the world. We report 5 cases that clinically and histopathologically fulfilled the characterisitics of PP and were treated with dapsone resulting in significant clinical improvement.
Dapsone ; Japan ; Pigmentation ; Prurigo* ; Skin Diseases

No abstract available.
Computational Biology* ; Genomics* ; Protein Interaction Maps

PURPOSE: Orbital pseudotumor is a nonspecific benign orbital inflammation without evidence of specific local or systemic cause. Orbital pseudotumor rarely displays predominant tissue eosinophilia without vasculitis. We report this rare case of eosinophilic orbital pseudotumor associated with acute pneumonic infiltrates. METHODS: A 27-year-old man visited our clinic because of painless swelling of the upper and lower lid and proptosis which developed 10 days ago. Subconjunctival mass showed severe eosinophilic infiltration, mild proliferation of capillaries, and non-necrotic vasculitis. We started steroid treatement under the diagnosis of atypical orbital pseudotumor with acute pneumonic infiltrates. RESULTS: At four days after starting steroid treatment, swelling of lids, proptosis and pulmonary infiltration disappeared. At four months there was no evidence of recurrence with the cessation of steroid.
Adult ; Capillaries ; Diagnosis ; Eosinophilia ; Eosinophils ; Exophthalmos ; Humans ; Inflammation ; Orbit* ; Orbital Pseudotumor* ; Pneumonia ; Recurrence ; Vasculitis