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

Bergman, Reuven; Harel, Avikam; Sprecher, Eli

doi:10.1016/j.jaad.2007.02.023

Cited by 16 publications

(10 citation statements)

References 26 publications

(26 reference statements)

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“…This mutation is the most commonly reported mutation in Dowling–Meara EB simplex, located in the helix initiation motif in the helix 1 A domain of keratin 14 4 . In addition, dyskeratosis of individual keratinocytes, which is a hallmark histological feature of Dowling–Meara EB simplex, was also observed in our patient, although this was tentatively observed 5 . Our patient with EB simplex had a quite different histological phenotype.…”

Section: Discussionsupporting

confidence: 46%

“…4 In addition, dyskeratosis of individual keratinocytes, which is a hallmark histological feature of Dowling-Meara EB simplex, was also observed in our patient, although this was tentatively observed. 5 Our patient with EB simplex had a quite different histological phenotype. We do not know exactly why the phenotype differs between our case and the Dowling-Meara cases.…”

Section: Discussionmentioning

confidence: 76%

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Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys

Tsuruta

Sowa

Tateishi

et al. 2011

The Journal of Dermatology

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Epidermolysis bullosa (EB) is a group of hereditary autosomal dominant bullous diseases. EB is divided into four major phenotypes: intraepidermal EB (or EB simplex), junctional EB, dermolytic EB and mixed EB (Kindler syndrome). EB simplex is further divided into three subtypes: localized EB simplex, Dowling-Meara EB simplex and other generalized EB simplex. We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p.Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells. Immunohistochemistry revealed that the broader expression of keratin 5 and 14 was observed in the epidermis, while the expression of keratin 1/10 was quite normal. Dysregulated expression of keratin 5/14 may hinder some functions or roles of keratin 1/10, namely filament assembly of keratin 1/10 in spinous cell integrity, although the expression of keratin 1/10 was not affected and this has not been demonstrated before.

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Section: Discussionsupporting

confidence: 46%

Section: Discussionmentioning

confidence: 76%

Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys

Tsuruta

Sowa

Tateishi

et al. 2011

The Journal of Dermatology

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“…The eosinophilic condensations might represent perinuclear clumpings of keratin tonofilaments as a result of a dominantnegative effect of the altered keratin 16 and 17 filaments. This phenomenon has been observed in inherited autosomal keratin disorders such as epidermolysis bullosa Dowling-Meara and epidermolytic hyperkeratosis, 3,25 in which the mutated keratin filament is believed to form an abnormal complex with the wild-type keratin filament. Ultrastructural examination of a family with pachyonychia type I associated with a KRT16 mutation revealed keratin filaments that were greatly condensed but did not form the dense amorphous aggregates seen in a number of other keratin disorders.…”

Section: Discussionmentioning

confidence: 93%

Disadhesion of epidermal keratinocytes: A histologic clue to palmoplantar keratodermas caused by DSG1 mutations

Bergman

Hershkovitz

Fuchs

et al. 2010

Journal of the American Academy of Dermatology

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“…It has been observed in Darier disease, 5,6 Ichthyosis Hystrix of Curth-Macklin, 7 and recently in ectodermal dysplasia/skin fragility syndrome 17 and in epidermolysis bullosa DowlingMeara. 21 Vacuolizations of keratinocytes and hyperkeratosis have been viewed as the prime histological characteristics of EHK. 8-10 EHK is characterized histologically by variously sized clear spaces bounded by reticulate, amphophilic material in the cytoplasm of spinous and granular layer cells, a greatly thickened granular layer containing an increased number of small and large irregularly shaped keratohyaline and trichohyaline-like bodies and compact hyperkeratosis.…”

Section: Discussionmentioning

confidence: 99%

A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

Bergman

Khamaysi

Sprecher

2008

The American Journal of Dermatopathology

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Hereditary skin diseases that are characterized ultrastructurally by intracellular clumpings of keratin tonofilaments, such as Darier disease and Ichthyosis Hystrix of Curth-Macklin, display epidermal dyskeratosis also histologically. Epidermolytic hyperkeratosis (EHK) and epidermolytic palmoplantar keratoderma (Voerner type) (EPPK) are 2 types of autosomal dominant keratodermas, which are also characterized ultrastructurally by intracellular clumpings of tonofilaments but usually without a clear description of histological dyskeratosis. The main aim of the present study was to characterize the histologic signs of keratin aggregation and clumping in the involved epidermis of EHK and EPPK. Two cases of EHK caused by KRT1 mutations and 4 cases of EPPK caused by KRT9 mutations were studied. The biopsies were obtained mostly from the involved skin of the palm. All 6 biopsies were studied histologically, and 4 biopsies (2 EHKs and 2 EPPKs) were also studied ultrastructurally. All 6 cases displayed the characteristic histological epidermolytic changes. In addition, intracytoplasmic and perinuclear eosinophilic homogenizations and round to oval eosinophilic inclusions were identified with varying frequencies in the involved epidermis of all 6 cases. These findings, which were more prominent in the EHK cases, corresponded most likely to the intracytoplasmic aggregates of tonofilaments and to the large round to oval dense clumps of tonofilaments, which were observed ultrastructurally. In conclusion, varying degrees of dyskeratosis are frequently present in EHK and EPPK and should be considered to be a histological characteristic of these disorders.

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

Cited by 16 publications

References 26 publications

Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys

Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys

Disadhesion of epidermal keratinocytes: A histologic clue to palmoplantar keratodermas caused by DSG1 mutations

A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

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