Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome
The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated. 1 Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have ove...
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| Veröffentlicht in: | Journal of AAPOS 2003-04, Vol.7 (2), p.148-149 |
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| creator | Brown, Kim E Goldstein, Scott M Douglas, Raymond S Katowitz, James A |
| description | The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.
1 Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling.
1 In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes. |
| doi_str_mv | 10.1016/S1091-8531(03)00012-0 |
| format | Article |
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1 Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling.
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1 Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling.
1 In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.</description><subject>Atrophy</subject><subject>Brain Diseases - diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Eyelid Neoplasms - pathology</subject><subject>Female</subject><subject>Head and Neck Neoplasms - pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Lipomatosis - pathology</subject><subject>Neurocutaneous Syndromes - diagnosis</subject><subject>Neurocutaneous Syndromes - pathology</subject><subject>Scalp</subject><subject>Skin Neoplasms - pathology</subject><issn>1091-8531</issn><issn>1528-3933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLxDAQgIMorlZ_grIn0UM1k6SPeFlkWR-w4EE9hzSdYqRt1qQV9t_b3a7ozdMMzDevj5AzoNdAIb15ASohzhMOl5RfUUqBxXSPHEHC8phLzveH_AeZkOMQPgYolQCHZAIs42nK4YjMFq3B1buunfG6tc70nW7R9WFa25VrdOeCDbdTPW2x93-qYd2W3jV4Qg4qXQc83cWIvN0vXueP8fL54Wl-t4wNT6GLQVQaeCaSNAekokoKYRgtKykp5lKXrCqzSgtuhKZSmkTqvABmeJGmAinXPCIX49yVd589hk41Nhis6_EelXEmKBveikgygsa7EDxWauVto_1aAVUbc2prTm20KMrV1tyQROR8t6AvGix_u3aqBmA2Aji8-WXRq2AsDvZK69F0qnT2nxXf7LR-FA</recordid><startdate>20030401</startdate><enddate>20030401</enddate><creator>Brown, Kim E</creator><creator>Goldstein, Scott M</creator><creator>Douglas, Raymond S</creator><creator>Katowitz, James A</creator><general>Mosby, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20030401</creationdate><title>Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome</title><author>Brown, Kim E ; Goldstein, Scott M ; Douglas, Raymond S ; Katowitz, James A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-14fa13745681e04f5b4c20df990e89ad2fd7fa43c4a099c59a8b12c3b664e03a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Atrophy</topic><topic>Brain Diseases - diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Eyelid Neoplasms - pathology</topic><topic>Female</topic><topic>Head and Neck Neoplasms - pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Lipomatosis - pathology</topic><topic>Neurocutaneous Syndromes - diagnosis</topic><topic>Neurocutaneous Syndromes - pathology</topic><topic>Scalp</topic><topic>Skin Neoplasms - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brown, Kim E</creatorcontrib><creatorcontrib>Goldstein, Scott M</creatorcontrib><creatorcontrib>Douglas, Raymond S</creatorcontrib><creatorcontrib>Katowitz, James A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of AAPOS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brown, Kim E</au><au>Goldstein, Scott M</au><au>Douglas, Raymond S</au><au>Katowitz, James A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome</atitle><jtitle>Journal of AAPOS</jtitle><addtitle>J AAPOS</addtitle><date>2003-04-01</date><risdate>2003</risdate><volume>7</volume><issue>2</issue><spage>148</spage><epage>149</epage><pages>148-149</pages><issn>1091-8531</issn><eissn>1528-3933</eissn><abstract>The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.
1 Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling.
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| ispartof | Journal of AAPOS, 2003-04, Vol.7 (2), p.148-149 |
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| subjects | Atrophy Brain Diseases - diagnosis Diagnosis, Differential Eyelid Neoplasms - pathology Female Head and Neck Neoplasms - pathology Humans Infant Lipomatosis - pathology Neurocutaneous Syndromes - diagnosis Neurocutaneous Syndromes - pathology Scalp Skin Neoplasms - pathology |
| title | Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome |
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