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Ultrastructural studies in epidermolysis bullosa hereditaria

III. Recessive Dystrophic Types with Dermolytic Blistering (Hallopeau-Siemens Types and Inverse Type)

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Summary

Ultrastructural examination was performed in 42 biopsy specimens from 22 patients with the Hallopeau-Siemens types or with the inverse type of epidermolysis bullosa dystrophica recessiva. The patient group consists of 8 cases of the localized Hallopeau-Siemens type, 9 of the generalized Hallopeau-Siemens type and 5 of the inverse type. The origins of the biopsy specimens are involved, intact and experimentally frictioned skin from blister-predilected sites, as well as clinically normal skin from nonpredilection sites. It is confirmed that all the blisters initiate below the basal lamina. Anchoring fibrils are moderately to markedly decreased in most cases, but normal in 3 cases. The collagen fibrils are more or less changed in the majority of cases, while they are normal in 3 other cases. It is thought that secondary degradation of anchoring fibrils and/or collagen fibrils plays an important role in blistering mechanism in the Hallopeau-Siemens and inverse types of recessive dystrophic epidermolysis bullosa, whereas a primary aplasia of anchoring fibrils as causative defect has been out ruled.

Zusammenfassung

Ultrastrukturelle Untersuchungen wurden an 42 Biopsien von 22 Patienten mit einem der Hallopeau-Siemens-Typen bzw. mit dem inversen Typus der rezessiv-dystrophischen Epidermolysis bullosa durchgeführt. Das Patienten-Kollektiv besteht aus 8 Fällen des lokalisierten Hallopeau-Siemens-Typs, 9 des generalisierten Hallopeau-Siemens-Typs und 5 des inversen Typs. Die Biopsien stammen aus befallener, intakter und experimentell traumatisierter Haut von Praedilektionsstellen sowie aus klinisch normaler Haut von Nichtpraedilektionsstellen der Blasenbildung. Es wurde nachgewiesen, daß die Blasenbildung stets unterhalb der Basallamina beginnt. In den meisten Fällen sind die anchoring fibrils mäßig bis stark vermindert, in 3 Fällen jedoch normal. Die Kollagenfibrillen sind in der Mehrzahl der Fälle mehr oder weniger verändert. Es wird angenommen, daß eine sekundäre Degradation von anchoring fibrils und/oder Kollagenfibrillen eine bedeutende Rolle bei der Blasenbildung der Hallopeau-Simens-Typen und des inversen Typs der rezessiv-dystrophischen Epidermolysis bullosa spielt. Dagegen kann eine primäre Aplasie der anchoring fibrils als Ursache ausgeschlossen werden.

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Authors and Affiliations

  1. Genetics Laboratory, Norsk Hydros Institute for Cancer Research, the Norwegian Radium Hospital, Oslo, Norway

    T. Gedde-Dahl Jr.

  2. Department of Pathology, Washington University School of Medicine, St. Louis, Missouri, USA

    S. Ward

  3. Universitäts-Hautklinik, Voss-Str. 2, D-6900, Heidelberg, Germany

    U. W. Schnyder & I. Anton-Lamprecht

Authors
  1. I. Hashimoto
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  2. U. W. Schnyder
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  3. I. Anton-Lamprecht
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  4. T. Gedde-Dahl Jr.
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  5. S. Ward
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Additional information

Supported by the Deutsche Forschungsgemeinschaft, Sonderforschungsbereich Klinische Genetik, SFB 35/B5

On leave of absence from the Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan

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Hashimoto, I., Schnyder, U.W., Anton-Lamprecht, I. et al. Ultrastructural studies in epidermolysis bullosa hereditaria. Arch. Derm. Res. 256, 137–150 (1976). https://doi.org/10.1007/BF00567360

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