Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

Paller, Amy S.; Syder, Andrew J.; Chan, Yiu Mo; Yu, Qian; Hutton, Elizabeth; Tadini, Gianluca; Fuchs, Elaine

doi:10.1056/nejm199411243312103

Cited by 297 publications

(194 citation statements)

References 33 publications

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“…[72][73][74] Because recognition of this risk is important for genetic counseling, epidermolytic nevi have been included (in brackets) in the classification of KPI (Table II).…”

Section: Classification Of the Keratinopathic Ichthyosesmentioning

confidence: 99%

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Oji

Tadini

Akiyama

et al. 2010

Journal of the American Academy of Dermatology

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“…[72][73][74] Because recognition of this risk is important for genetic counseling, epidermolytic nevi have been included (in brackets) in the classification of KPI (Table II).…”

Section: Classification Of the Keratinopathic Ichthyosesmentioning

confidence: 99%

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Oji

Tadini

Akiyama

et al. 2010

Journal of the American Academy of Dermatology

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682

704

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“…However, in light of the new molecular data, epidermolytic and non-epidermolytic verrucous epidermal nevi should be distinguished histologically. VEN represent a noninfl ammatory congenital cutaneous hamartomas composed of keratinocytes that are abnormal clone/ clones of cells that refl ect genetic mosaicism which arises from diff erent somatic mutations (3,21,22). Some of these mutations are well recognized, but some are still unidentifi ed (3).…”

Section: Discussionmentioning

confidence: 99%

“…Some of these mutations are well recognized, but some are still unidentifi ed (3). It has been confi rmed that epidermolytic VEN represent clones of cells expressing a mutation in one of the bullous ichthyosiform erythroderma (BIE) gene: KRT10 (21,23) or KRT1 (24). Such VEN cannot be passed on from parent to child, but contrary to nonepidermolytic VEN, that present mosaicism for diff erent, and as yet unidentifi ed, mutations, a parent with an epidermolytic VEN may have gonadal mosaicism as well as skin mosaicism, and can therefore produce off spring with generalized BIE (21, 24 -27).…”

Section: Discussionmentioning

confidence: 99%

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Treatment of Verrucous Epidermal Nevus by Radiofrequency Ablation: a Case Report

Ljubisavljević

Zlatanović

Milenkovic

et al. 2015

Serbian Journal of Dermatology and Venereology

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Verrucous epidermal nevi are noninfl ammatory, congenital, cutaneous hamartomas composed of keratinocytes, abnormal clone(s) of cells that refl ect genetic mosaicism arising from different somatic mutations. Some of these mutations are well recognized, but some are still unidentifi ed. Molecular techniques are used for identifi cation and classifi cation of molecular causes of certain epidermal nevi, whereas all verrucous epidermal nevi are divided into epidermolytic and non-epidermolytic types. They are typically present at birth, but may appear during childhood, even later. Their prevalence in adults ranges from 0.1 to 0.5%, equally affecting both sexes, and about 1 in 1000 newborns. Warty, brown papules without infl ammation distinguish verrucous nevi from other epidermal nevi, while presence at birth and persistance distinguish verrucous epidermal nevi from linear viral warts. Epidermolytic and non-epidermolytic verrucous epidermal nevi are almost always hard to distinguish, except by histology. As a rule, verrucous epidermal nevi are asymptomatic, they have a benign course, except occasionally, and therapy is mostly used for cosmetic reasons. Simple excision is usually the treatment of choice. Topical agents are rarely curative, as well as surgery which is associated with relapses, unless both epidermis and the underlying dermis are removed or destroyed at the same time. We present a case of an otherwise healthy 21-year-old female patient, who presented with a solitary congenital verrucous caulifl ower-like lesion in the right zygomatic region of the face. The lesion was present from birth. Due to its gradual growth during years, the lesion became a great esthetic and functional problem for this young patient. There was no family history of similar or any other tumorous skin lesions in the family. On examination, the patient had a solitar unilateral, well defi ned yellowish caulifl ower-like verrucous lesion confi ned to the right malar side of the face. The lesion was distributed along the lines of Blaschko extending horizontally, from its wider 1.5 cm caulifl ower-like part on the right zygomatic region, towards its tail-like 0.5 cm thick end on the preauricular region, in approximately 3 cm long tail-like manner without crossing the midline. Since the patient refused biopsy, no exact differentiation between epidermolytic and non-epidermolytic nevi was possible. The diagnosis of verrucous epidermal nevus was based on history and clinical presentation, as a diagnosis of exclusion. Due to the fact that patients with epidermolytic verrucous epidermal nevi are at risk of parenting a child with bullous ichthyosiform erythroderma, the patient was counseled on this risk, and on the possibility of fi rst-trimester antenatal diagnosis. The lesion was successfully treated by radio-wave surgery.

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“…Secondly, in many families, one of the parents of a patient with EHK has localized linear epidermal nevi, hamartomas of the epidermis that develop along the lines of Blaschko. These lesions demonstrate pathology similar to EHK and harbor mutations identified in the offspring with full-blown EHK [29,30]. Thus, these epidermal nevi appear to represent somatic mosaicisms within this disease, the offspring demonstrating full-blown EHK as a result of germ line mosaicism.…”

Section: Nih-pa Author Manuscriptmentioning

confidence: 99%

Diseases of epidermal keratins and their linker proteins

Uitto

Richard

McGrath³

2007

Experimental Cell Research

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Epidermal keratins, a diverse group of structural proteins, form intermediate filament networks responsible for the structural integrity of keratinocytes. The networks extend from the nucleus of the epidermal cells to the plasma membrane where the keratins attach to linker proteins which are part of desmosomal and hemidesmosomal attachment complexes. The expression of specific keratin genes is regulated by differentiation of the epidermal cells within the stratifying squamous epithelium. Progress in molecular characterization of the epidermal keratins and their linker proteins has formed the basis to identify mutations which are associated with distinct cutaneous manifestations in patients with genodermatoses. The precise phenotype of each disease apparently reflects the spatial level of expression of the mutated genes, as well as the types and positions of the mutations and their consequences at mRNA and protein levels. Identification of specific mutations in keratinization disorders has provided the basis for improved diagnosis and subclassification with prognostic implications and has formed the platform for prenatal testing and preimplantation genetic diagnosis. Finally, precise knowledge of the mutations is a prerequisite for development of gene therapy approaches to counteract, and potentially cure, these often devastating and currently intractable diseases. KeywordsEpidermal keratins; intermediate filaments; epidermal differentiation; hemidesmosomes; desmosomes; genodermatoses; skin fragility; epidermolysis bullosa; epidermolytic hyperkeratosis; ichthyosis Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. BIOLOGY OF EPIDERMAL KERATINSKeratins NIH Public Access Author ManuscriptExp Cell Res. Author manuscript; available in PMC 2008 November 4. Published in final edited form as:Exp Cell Res. 2007 June 10; 313(10): 1995-2009. doi:10.1016/j.yexcr.2007.03.029. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript dimensional and highly dynamic cytoskeleton spanning between the nucleus and the cell membrane, where they are anchored by interactions with desmosomal and hemidesmosomal linker proteins (Fig. 1). This organization provides both structural stability and flexibility, and ensures the mechanical integrity of different epithelial tissues. Keratins are expressed as obligate heterodimers of acidic (type I) and basic (type II) proteins, which assemble, through a multi-step process, into intermediate filaments (Fig. 2). The genes encoding type I and type II keratins cluster on chromosomal regions 17q12-q21 and 12q11-q13, respectively. Keratin ...

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Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

Cited by 297 publications

References 33 publications

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Treatment of Verrucous Epidermal Nevus by Radiofrequency Ablation: a Case Report

Diseases of epidermal keratins and their linker proteins

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