Review of genodermatoses with characteristic histopathology and potential diagnostic delay

Ko, Christine J.; Atzmony, Lihi; Lim, Young Hee; McNiff, Jennifer M.; Craiglow, Brittany G.; Antaya, Richard J.; Choate, Keith

doi:10.1111/cup.13520

Cited by 5 publications

(6 citation statements)

References 47 publications

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“…In patients with CHILD syndrome, VXs appear as multiple papules or nodules arranged in linear streaks with midline demarcation. 23 Of particular note, mutations involving the gene encoding NSDHL (NADP dependent steroid dehydrogenase-like) have been identified not only in CHILD syndrome, but also reported in a subset of apparently sporadic VXs. 24 Beyond comparing reported versus consecutive clinical features, we also endeavoured to assess the prevalence and reliability of the classic diagnostic criteria in an unselected consecutive cohort from diverse institutions.…”

Section: Discussionmentioning

confidence: 99%

“…This difference relates, at least in significant part, to the emphasis in the published literature of the association of VX with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, 20–22 a genetic disease that almost exclusively manifests in females due to its X‐linked dominant mode of inheritance and lethality in males. In patients with CHILD syndrome, VXs appear as multiple papules or nodules arranged in linear streaks with midline demarcation 23 . Of particular note, mutations involving the gene encoding NSDHL (NADP dependent steroid dehydrogenase‐like) have been identified not only in CHILD syndrome, but also reported in a subset of apparently sporadic VXs 24 …”

Section: Discussionmentioning

confidence: 99%

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Genital verruciform xanthoma: lessons from a contemporary multi‐institutional series

Wang¹,

Mochel²,

Randall

et al. 2020

Histopathology

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Aims: Verruciform xanthoma (VX) is an uncommon lesion, seen in the oral mucosa and rarely occurring at cutaneous genital sites. Reports of exceptional VX presentations dominate the literature; herein, we assess the clinical and histological features of a cohort of routine, consecutive cases. Methods and results: Clinicopathological features of genital VXs from four academic centres were reviewed. A cohort of 25 lesions from 24 patients (22 male, two female; median age = 62 years), occurred on the scrotum (84%), penis (8%) and perineum/ vulva (8%). VX was never suspected clinically; considerations ranged from fibroepithelial polyps to squamous cell carcinoma. Classic diagnostic criteria were present at least focally in each lesion, including verrucous architecture, prominent wedge-shaped parakeratosis extending between exophytic epidermal projections and neutrophils in the stratum corneum. Xanthomatous cells were present in all cases, but scattered to rare in 24%. Conclusions: Consecutive genital VXs reliably exhibited classic histopathological features, although the essential finding of xanthomatous cells may be scarce. Our comparison to meta-analyses of published cases found relatively fewer penile and vulvar examples. Additionally, the median age was older than in published series, which have emphasised syndromic associations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Genital verruciform xanthoma: lessons from a contemporary multi‐institutional series

Wang¹,

Mochel²,

Randall

et al. 2020

Histopathology

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“…Recent advances in genetics and molecular biology have revealed that many cutaneous diseases stem from changes in DNAeither DNA mutations in the host (genodermatoses (Ko et al 2019) and inflammatory disorders (Bowcock and Cookson 2004)) or pathogenic DNA in viruses (de Buhr and Lebbink 2018) and bacteria (Greene 2018;Pursey et al 2018;Viertel et al 2014) (skin infections)opening a new avenue to target these diseases. Specifically, the discovery of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and corresponding CRISPR-associated (Cas) nucleases has enabled the editing of precise molecular targets (e.g., DNA and RNA sequences) in a variety of clinically applicable contexts (Doudna and Charpentier 2014;Fellmann et al 2017).…”

Section: Introductionmentioning

confidence: 99%

The Potential of CRISPR-Guided Therapies in the Dermatology Clinic

Bhat

Garibyan

2022

JID Innovations

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. 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.

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“…The molecular bases of genodermatoses include the following: mutations in structural epidermal genes; mutations in genes encoding integral components of the supramolecular adhesion complexes; and mutations in genes implicated in DNA repair pathways [2]. In the last years, advances in human genetics have allowed the discovery of new genes associated with inherited skin diseases, as well as revising definitions and categorizations for genodermatoses [3,4].…”

Section: Introductionmentioning

confidence: 99%

“…As timely diagnosis may provide an adequate clinical treatment of the disease itself and of the systemic manifestations, constant consciousness of the associations between a specific genetic mutation and the corresponding phenotype will enable more effective management of genodermatoses [4].…”

Section: Introductionmentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Review of genodermatoses with characteristic histopathology and potential diagnostic delay

Cited by 5 publications

References 47 publications

Genital verruciform xanthoma: lessons from a contemporary multi‐institutional series

Genital verruciform xanthoma: lessons from a contemporary multi‐institutional series

The Potential of CRISPR-Guided Therapies in the Dermatology Clinic

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

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