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Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages 

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Presentation on theme: "Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages "— Presentation transcript:

1 Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages  Pamela Poblete Gutiérrez, Thomas Eggermann, Daniela Höller, Frank K. Jugert, Torsten Beermann, Elke-Ingrid Grußendorf-Conen, Klaus Zerres, Hans F. Merk, Jorge Frank  Journal of Investigative Dermatology  Volume 119, Issue 2, Pages (August 2002) DOI: /j x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigree of the nuclear family and associated haplotypes. Affected individuals are indicated by filled circles and squares. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Turban-tumor-like appearance of cylindromas in individual I-1. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Small cylindromas on the face of individual III-2.
Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Cylindromas and epithelioma adenoides cysticum on the face of individual IV-1. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

6 Figure 5 Histology of a cylindroma excised from the nasolabial region of individual I-1. PAS staining. Scale bar: 50 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

7 Figure 6 Histology of a trichoepithelioma excised from the scalp of individual IV-1. Hematoxylin and eosin staining. Scale bar: 100 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

8 Figure 7 Results of heteroduplex and sequencing analysis. Complex heteroduplex formation in individuals I-1, III-2, and IV-1 (top panel). Automated sequence analysis of the forward strand of the PCR fragment containing exon 17; deletion of a G-nucleotide in affected individuals (lower panel, indicated by an arrow) compared with the wild-type sequence of a control (middle panel). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

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