Biomedical subjects
Publications and source records attributed to Jee-Ho Choi.
Generalized perforating granuloma annulare presents with flesh- to red-colored, 1-5 mm papules with a central umbilicated crust or scale that usually involves the extremities, face, neck, and trunk. Perforating granulomas are demonstrated on histopathology. Our patient is a 68-day-old girl with generalized perforating granuloma annulare.
Mucinous nevus is a very rare entity and can be classified as both a cutaneous mucinosis (CM) and a connective tissue nevus (CTN). We describe the clinicopathologic features of an unusual case of mucinous nevus in a 14-year-old Korean boy who presented with zosteriform plaques of congenital onset.
Microvenular hemangioma (MVH) is a rare, benign, acquired vascular tumor. We report a case that shows the characteristic histopathologic features of this disorder in a boy with acute myelogenous leukemia (AML), suggesting an association with systemic immunosuppression.
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Lipodystrophia centrifugalis abdominalis infantilis is a rare disorder described exclusively in Asians. Thirty Korean patients (4 women, 20 girls, and 6 boys) with a clinical and/or histopathologic diagnosis of this disorder were evaluated. The mean age of onset was 6.2 years. Infantile or congenital onset was seen in only three girls and two boys. In 50% of females, onset was after 5 years of age. All patients had involvement of the lower abdomen and groin both as the site of onset and as the main site. Histopathologic analysis showed loss of fat with or without an infiltrate of lymphocytes and histiocytes in the subcutis. Only one patient responded to treatment, an adult female who received photochemotherapy with softening of the lesions and symptomatic improvement. In previous reports, the age of onset of this disorder was at an age younger than 5 years but older than infants, making the term lipodystrophia centrifugalis abdominalis juvenilis more appropriate. In our series, 50% of females had onset after 5 years of age and 12.5% after 18 years of age. In one woman, the lesion that developed at 4 years of age progressed until adulthood. Our study of affected Korean patients showed a fourfold female predilection and later onset in female patients.
The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. Novel identification of the mutation in VPS33B in this syndrome, which involves intracellular protein trafficking by regulation of vesicle-to-target sensory nerve action potential receptor (SNARE) family, might explain the consistent combination of membrane fusion defects. We can guess the defective lamellar body secretion mediated by the soluble N-ethylmaleimide-sensitive factor attachment protein receptor or SNARE protein pathway in the epidermis might result in the ichthyosiform phenotype. In the English-language literature, half of the reported instances of this syndrome are associated with ichthyosis. We report an infant with ichthyosis in association with arthrogryposis, renal tubular dysfunction, and cholestasis syndrome, and review the literature. Our findings suggest that the differential diagnosis of ichthyosis during infancy should include this syndrome.