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Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex  Masashi Akiyama, Angela.

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Presentation on theme: "Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex  Masashi Akiyama, Angela."— Presentation transcript:

1 Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex  Masashi Akiyama, Angela M. Christiano, Kozo Yoneda, Hiroshi Shimizu  Journal of Investigative Dermatology  Volume 111, Issue 1, Pages (July 1998) DOI: /j x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Linkage to the EDC on 1q21 is excluded in this family of MPPK. (a) Pedigree of the family. Case 1 is the proband. Note the consanguinity in the grandparents. (b) Analysis of microsatellite markers shows exclusion of linkage to the three microsatellites, D1S2344, D1S2345, and D1S305, in case 1 and case 2. Note that the proband and his sister have inherited different parental alleles for each of the three markers. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Characteristic clinical features and histopathology of the finger lesion of the proband. (a) The palm has a hyperkeratotic waxy appearance. Marked pseudoainhum is noted on the DIP joint of the right fourth and fifth and left third fingers. (b) Marked hyperkeratosis and moderate acanthosis are seen (hematoxylin and eosin stain). Hypergranulosis is present but parakeratosis is not seen. Scale bar, 100 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Electron microscopy of the lesional skin of the proband shows abnormal CCE formation. Granular cells have normal keratin bundles and keratohyalin granules (a). Thin CCE is normally formed in the granular cells (b), but in the cornified cells, CCE in patient skin (c) is remarkably thinner than in normal control skin (d). Ring-shaped structures of thin CCE and desmosomes are seen in an upper granular cell (e). Arrowheads, CCE;arrows, lipid droplets. Scale bars, (a) 2 μm, (b–d) 0.2 μm, (e) 0.5 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Weak cytoplasmic expression of loricrin in the granular layers of the lesional skin. Loricrin immunolabeling is detected by fluorescein isothiocyanate-conjugated secondary antibody (green) and nuclear stain is performed by propidium iodide (red). Loricrin immunolabeling in the lesional skin (a) and nonlesional skin (b) of the patient. Immunofluorescent labeling of loricrin is abnormally weak, cytoplasmic in the granular layers of the lesional skin in contrast to linear membranous stainings in the nonlesional site. Scale bars, 50 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

6 Figure 5 Membranous stainings in the granular and upper spinous layers both for involucrin and for SPRP 1 and 2 are similarly observed in lesional and nonlesional skin of the patient. Involucrin and SPRP 1 and 2 immunolabelings are detected by fluorescein isothiocyanate-conjugated secondary antibody (green) and nuclear stain is carried out by propidium iodide (red). Involucrin immunolabeling in lesional skin (a) and nonlesional skin (b), SPRP 1 and 2 immunolocalization in lesional skin (c) and nonlesional skin (d) of the patient and normal control skin (e). Scale bars, 50 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

7 Figure 6 Post-embedding immunoelectron microscopy shows strikingly reduced loricrin deposition to CCE in lesional skin. Ultrastructural distribution of loricrin and involucrin is demonstrated by silver-enhanced immunogold particles. Note sparse loricrin labeling on CCE of a cornified cell in the patient skin (a), in contrast to dense loricrin labeling in normal control skin (b). On the other hand, involucrin labeling on CCE of a cornified cell is rich in the patient skin (c), but not in normal control skin (d). Scale bars, 0.2 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

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