Acantholytic ectodermal dysplasia

clinicopathological study of a new desmosomal disorder

B. C. Winik, R. A. Asial, J. A. McGrath, A. P. South, M. C. Boente

    Research output: Contribution to journalArticle

    9 Citations (Scopus)

    Abstract

    We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease. Clinical features included trauma-induced blisters and erosions, palmoplantar keratoderma and hyperkeratotic, fissured plaques with perioral involvement. The patients had abundant curly scalp hair, and normal eyebrows and eyelashes. Sweating was normal. Nails were normal at birth but subsequently showed secondary dystrophy. Histopathological analysis of the skin demonstrated acantholysis and intercellular widening of the spinous and granular layers in involved regions. No involvement of scalp skin was seen. Desmosomes were markedly reduced in number and poorly developed with no clear insertions of the keratin filaments. The latter were clumped around the nuclei. Immunostaining of patient skin with antibodies raised against key desmosomal proteins demonstrated disrupted expression of desmoplakin, plakoglobin and desmoglein 1. Additional studies of the family history and of the desmoplakin, plakoglobin and desmoglein 1 genotype for both patients may help further elucidate the molecular cause of this variation on ectodermal dysplasia-skin fragility syndrome.
    Original languageEnglish
    Pages (from-to)868-874
    Number of pages7
    JournalBritish Journal of Dermatology
    Volume160
    Issue number4
    DOIs
    Publication statusPublished - 1 Apr 2009

    Fingerprint

    Ectodermal Dysplasia
    Desmoglein 1
    Desmoplakins
    Palmoplantar Keratoderma
    gamma Catenin
    Skin
    Scalp
    Hair
    Acantholysis
    Eyelashes
    Eyebrows
    Desmosomes
    Sweating
    Blister
    Keratins
    Nails
    Genotype
    Parturition
    Antibodies
    Wounds and Injuries

    Cite this

    Winik, B. C. ; Asial, R. A. ; McGrath, J. A. ; South, A. P. ; Boente, M. C. / Acantholytic ectodermal dysplasia : clinicopathological study of a new desmosomal disorder. In: British Journal of Dermatology. 2009 ; Vol. 160, No. 4. pp. 868-874.
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    abstract = "We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease. Clinical features included trauma-induced blisters and erosions, palmoplantar keratoderma and hyperkeratotic, fissured plaques with perioral involvement. The patients had abundant curly scalp hair, and normal eyebrows and eyelashes. Sweating was normal. Nails were normal at birth but subsequently showed secondary dystrophy. Histopathological analysis of the skin demonstrated acantholysis and intercellular widening of the spinous and granular layers in involved regions. No involvement of scalp skin was seen. Desmosomes were markedly reduced in number and poorly developed with no clear insertions of the keratin filaments. The latter were clumped around the nuclei. Immunostaining of patient skin with antibodies raised against key desmosomal proteins demonstrated disrupted expression of desmoplakin, plakoglobin and desmoglein 1. Additional studies of the family history and of the desmoplakin, plakoglobin and desmoglein 1 genotype for both patients may help further elucidate the molecular cause of this variation on ectodermal dysplasia-skin fragility syndrome.",
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    Acantholytic ectodermal dysplasia : clinicopathological study of a new desmosomal disorder. / Winik, B. C.; Asial, R. A.; McGrath, J. A.; South, A. P.; Boente, M. C.

    In: British Journal of Dermatology, Vol. 160, No. 4, 01.04.2009, p. 868-874.

    Research output: Contribution to journalArticle

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    AU - Winik, B. C.

    AU - Asial, R. A.

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    AU - South, A. P.

    AU - Boente, M. C.

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