Ichthyosis Associated with ARC Syndrome: ARC Syndrome is One of the Differential Diagnoses of Ichthyosis
| Autor: | Mi-Woo Lee, Kee-Chan Moon, Jai-Kyoung Koh, Hye-Jin Choi, Jee Ho Choi |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
medicine.medical_specialty
Pathology Administration Topical Hyperkeratosis Dermatology Risk Assessment Severity of Illness Index Diagnosis Differential Renal tubular dysfunction Tubulopathy Cholestasis Internal medicine medicine Humans Abnormalities Multiple Arthrogryposis business.industry Ichthyosis Biopsy Needle Infant Syndrome medicine.disease Immunohistochemistry Dyskeratosis Kidney Tubules Endocrinology Pediatrics Perinatology and Child Health Female Kidney Diseases Steroids Differential diagnosis medicine.symptom business |
| Zdroj: | Pediatric Dermatology. 22:539-542 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/j.1525-1470.2005.00135.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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