De Sanctis-Cacchione Syndrome in a female infant - Case report
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and th...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2013-12-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600979&tlng=en |
| _version_ | 1818950577354178560 |
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| author | Amadeus Lima Rocha Caldas Mecciene Mendes Rodrigues |
| author_facet | Amadeus Lima Rocha Caldas Mecciene Mendes Rodrigues |
| author_sort | Amadeus Lima Rocha Caldas |
| collection | DOAJ |
| description | The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported. |
| first_indexed | 2024-12-20T09:20:48Z |
| format | Article |
| id | doaj.art-5349b9a929b5481f9dac9017c76b0892 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-12-20T09:20:48Z |
| publishDate | 2013-12-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-5349b9a929b5481f9dac9017c76b08922022-12-21T19:45:17ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962013-12-0188697998110.1590/abd1806-4841.20132844De Sanctis-Cacchione Syndrome in a female infant - Case reportAmadeus Lima Rocha CaldasMecciene Mendes RodriguesThe De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600979&tlng=enDNA repairDNA Repair-Deficiency DisordersXeroderma pigmentosumXeroderma pigmentosum group A protein |
| spellingShingle | Amadeus Lima Rocha Caldas Mecciene Mendes Rodrigues De Sanctis-Cacchione Syndrome in a female infant - Case report Anais Brasileiros de Dermatologia DNA repair DNA Repair-Deficiency Disorders Xeroderma pigmentosum Xeroderma pigmentosum group A protein |
| title | De Sanctis-Cacchione Syndrome in a female infant - Case report |
| title_full | De Sanctis-Cacchione Syndrome in a female infant - Case report |
| title_fullStr | De Sanctis-Cacchione Syndrome in a female infant - Case report |
| title_full_unstemmed | De Sanctis-Cacchione Syndrome in a female infant - Case report |
| title_short | De Sanctis-Cacchione Syndrome in a female infant - Case report |
| title_sort | de sanctis cacchione syndrome in a female infant case report |
| topic | DNA repair DNA Repair-Deficiency Disorders Xeroderma pigmentosum Xeroderma pigmentosum group A protein |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600979&tlng=en |
| work_keys_str_mv | AT amadeuslimarochacaldas desanctiscacchionesyndromeinafemaleinfantcasereport AT meccienemendesrodrigues desanctiscacchionesyndromeinafemaleinfantcasereport |