Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara. 2007

Reuven Bergman, and Avikam Harel, and Eli Sprecher
Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa 31096, Israel. r_bergman@rambam.health.gov.il

BACKGROUND Intracellular keratin aggregation and clumping is a characteristic ultrastructural feature in epidermolysis bullosa simplex (EBS)-Dowling Meara (DM) yet without histologic correlates in routinely stained specimens. OBJECTIVE We sought to detect histologic clues to keratin aggregation and clumping in the involved epidermis of EBS-DM. METHODS Four cases of EBS-DM caused by dominant keratin (KRT)5 and KRT14 mutations were studied histologically and ultrastructurally. The histologic slides of 11 additional EBS cases (9 Weber-Cockayne subtypes and two Koebner subtypes) were also reviewed histologically. RESULTS Intracytoplasmic aggregation and clumping of tonofilaments were observed ultrastructurally in all 4 EBS-DM cases. Intracytoplasmic eosinophilic homogenizations and inclusions (ie, dyskeratosis) in individual keratinocytes were detected histologically in 3 of the 4 EBS-DM cases, but in none of the 9 EBS-Weber-Cockayne cases or the two EBS-Koebner cases. CONCLUSIONS This was a relatively small studied group. CONCLUSIONS The histopathological detection of dyskeratosis in individual keratinocytes may provide a valuable clue to keratin aggregation and clumping, and to the diagnosis in EBS-DM.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007382 Intermediate Filaments Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus. Tonofilaments,Neurofilaments,Filament, Intermediate,Filaments, Intermediate,Intermediate Filament,Neurofilament,Tonofilament
D007633 Keratins A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION. Cytokeratin,Keratin Associated Protein,Keratin,Keratin-Associated Proteins,alpha-Keratin,Associated Protein, Keratin,Keratin Associated Proteins,Protein, Keratin Associated,alpha Keratin
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D002479 Inclusion Bodies A generic term for any circumscribed mass of foreign (e.g., lead or viruses) or metabolically inactive materials (e.g., ceroid or MALLORY BODIES), within the cytoplasm or nucleus of a cell. Inclusion bodies are in cells infected with certain filtrable viruses, observed especially in nerve, epithelial, or endothelial cells. (Stedman, 25th ed) Cellular Inclusions,Cytoplasmic Inclusions,Bodies, Inclusion,Body, Inclusion,Cellular Inclusion,Cytoplasmic Inclusion,Inclusion Body,Inclusion, Cellular,Inclusion, Cytoplasmic,Inclusions, Cellular,Inclusions, Cytoplasmic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003593 Cytoplasm The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990) Protoplasm,Cytoplasms,Protoplasms
D004804 Eosinophils Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin. Eosinophil
D005260 Female Females

Related Publications

Reuven Bergman, and Avikam Harel, and Eli Sprecher
November 2006, Ugeskrift for laeger,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
May 1992, The British journal of dermatology,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
January 1988, Acta dermato-venereologica,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
February 1986, Archives of dermatology,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
July 1986, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
September 2012, International journal of dermatology,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
January 1995, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
October 1999, The British journal of dermatology,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
January 1990, Annales de dermatologie et de venereologie,
Reuven Bergman, and Avikam Harel, and Eli Sprecher
January 1988, Annales de dermatologie et de venereologie,
Copied contents to your clipboard!