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Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses

Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red,... EDITORIAL Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses Work Still in Progress LONG DIFFERENTIAL DIAGNOSIS IS A The male neonate described by Mancini et al had clini- familiar scenario for many dermatolo- cal features of erythema and scale in a seborrheic pat- gists caring for patients with inherited tern but no clear clinical indicators of any particular dis- skin diseases, and no more so than order. A detailed history taking from the mother, however, A when neonates present with dry, scaly, established that she had a clinically mild form of incon- red, or eroded skin. An ability to make accurate diag- tinentia pigmenti (IP)—the only signs in adulthood being noses in such cases is often vitally important in patient some subtle hyperpigmented, linear, and whorled streaks management because the clinical course and prognosis following the lines of Blaschko on the lower legs and of the conditions may vary widely—a real problem flanks. With regard to her son, IP in a boy would nor- given the often overlapping and indistinguishable early mally be lethal in utero unless there were an abnormal physical signs. karyotype (eg, 47XXY, also known as Klinefelter http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Dermatology American Medical Association

Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses

JAMA Dermatology , Volume 144 (3) – Mar 1, 2008

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Publisher
American Medical Association
Copyright
Copyright 2008 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6068
eISSN
2168-6084
DOI
10.1001/archderm.144.3.387
pmid
18347296
Publisher site
See Article on Publisher Site

Abstract

EDITORIAL Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses Work Still in Progress LONG DIFFERENTIAL DIAGNOSIS IS A The male neonate described by Mancini et al had clini- familiar scenario for many dermatolo- cal features of erythema and scale in a seborrheic pat- gists caring for patients with inherited tern but no clear clinical indicators of any particular dis- skin diseases, and no more so than order. A detailed history taking from the mother, however, A when neonates present with dry, scaly, established that she had a clinically mild form of incon- red, or eroded skin. An ability to make accurate diag- tinentia pigmenti (IP)—the only signs in adulthood being noses in such cases is often vitally important in patient some subtle hyperpigmented, linear, and whorled streaks management because the clinical course and prognosis following the lines of Blaschko on the lower legs and of the conditions may vary widely—a real problem flanks. With regard to her son, IP in a boy would nor- given the often overlapping and indistinguishable early mally be lethal in utero unless there were an abnormal physical signs. karyotype (eg, 47XXY, also known as Klinefelter

Journal

JAMA DermatologyAmerican Medical Association

Published: Mar 1, 2008

References