Literature DB >> 25251940

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Deniz Aslan1, Rustu Fikret Akata, Julia Schröder, Rudolf Happle, Ute Moog, Oliver Bartsch.   

Abstract

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  Oculoectodermal syndrome; aplasia cutis congenita; digital anomaly; epibulbar dermoid; epidermal nevus; hypopigmented macule

Mesh:

Year:  2014        PMID: 25251940     DOI: 10.1002/ajmg.a.36727

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  Oculoectodermal syndrome: twentieth described case with new manifestations.

Authors:  Daniela de Almeida Figueiras; Deborah Maria de Castro Barbosa Leal; Valter Kozmhinsky; Marina Coutinho Domingues Querino; Marina Genesia da Silva Regueira; Maria Gabriela de Morais Studart
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896

2.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

Review 3.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

4.  Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Authors:  Aude Beyens; Laure Dequeker; Hilde Brems; Sandra Janssens; Hannes Syryn; Anne D'Hooghe; Pascale De Paepe; Lieve Vanwalleghem; Annelies Stockman; Elena Vankwikelberge; Sofie De Schepper; Marleen Goeteyn; Patricia Delbeke; Bert Callewaert
Journal:  Int J Mol Sci       Date:  2022-04-06       Impact factor: 5.923

5.  An Early Description of a "Human Mosaic" Involving the Skin: A Story from 1945.

Authors:  Rudolf Happle
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

  5 in total

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