| Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome). | |
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MedLine Citation:
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PMID: 21143296 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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BACKGROUND: The term cutis tricolor describes the combination of congenital hyper- and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (iii) as a distinct type [cutis tricolor parvimaculata]; (iv) in association with other (e.g. vascular) skin disturbances. OBJECTIVES: To delineate the spectrum of skeletal defects in cutis tricolor. METHODS: Retrospective and prospective analysis of skeletal surveys in 14 subjects (eight men; six women; aged 2-28 years) with cutis tricolor [4 purely cutaneous trait; 10 syndromic (RHS)]. RESULTS: Bone abnormalities were recorded in 71.4% (10/14) of patients [100% (10/10) of cases with (other-than-skeletal) extra-cutaneous manifestations vs. null (0/4) in cases with purely cutaneous traits] and included overall small skull (n = 6); prognathism (n = 6); 'J'-shaped pituitary fossa (n = 1); absence of atlas posterior arch (n = 3); frontal bossing (n = 6); scoliosis (n = 9) with kyphosis (n = 6) and/or lordosis (n = 6); vertebral (n = 9) and ribs (n = 4) defects. Negative ZFHX1B gene analyses excluded overlaps with Mowat-Wilson syndrome. CONCLUSIONS: Cutis tricolor may be a marker of underlying skeletal involvement particularly in subjects with a complex syndromic (RHS) phenotype. |
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Authors:
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Martino Ruggieri; Mario Roggini; Ingo Kennerknecht; Agata Polizzi; Angela Distefano; Vito Pavone |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 100 ISSN: 1651-2227 ISO Abbreviation: Acta Paediatr. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
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Languages: eng Pagination: 121-7 Citation Subset: IM |
Copyright Information:
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© 2010 The Author(s)/Acta Paediatrica © 2010 Foundation Acta Paediatrica. |
Affiliation:
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Department of Formative Processes, University of Catania, Italy. m.ruggieri@unict.it |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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