Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, macules resembling the asymmetrical leaves of a begonia, or oblong lesions. A review of cases with documentation of cytogenetic findings showed that aberrations involving chromosome 13 were present in 5 out of 6 patients. Examination of blood lymphocytes revealed a 46, XX/47 XX, +13 or 46, XX/47, XX, +der (13) mosaic in three of these cases and a karyotype 46, XX, t(13;13) in the other two cases. Cytogenetic analysis of skin fibroblasts showed chromosomal mosaicism in 4 of the 5 patients. In the remaining case, a chromosome 13 translocated on 13 was found in 100% of blood lymphocytes and skin fibroblasts, suggesting that mosaicism involving chromosome 13 may have developed in the melanocyte system. In conclusion, contrasting with hypomelanosis of Ito which is a cutaneous sign of many different states of mosaicism, phylloid hypomelanosis seems to originate preponderantly from a mosaic state involving chromosome 13. Future case reports may help to delineate further the significance of this relationship.
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PMID:Phylloid hypomelanosis is closely related to mosaic trisomy 13. 1105 19

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.
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PMID:Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. 2309 83