Syndrome in Question

Tonolli, Vanessa Mello; Stolf, Hamílton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patrícia Fernandes

doi:10.1590/abd1806-4841.20142806

Cited by 5 publications

(3 citation statements)

References 5 publications

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“…The findings of erythroderma with desquamation and erosions in the postnatal period can lead to misdiagnosis of EB or congenital ichthyosiform erythroderma, as occurred in our patient. Histopathological examination in our patient was also suggestive of EB, which is consistent with a previous report . AEC syndrome should be strongly suspected when an infant who had erythroderma and cleft lip/palate at birth later develops recurrent infected scalp erosions.…”

Section: Discussionsupporting

confidence: 91%

“…Histopathological examination in our patient was also suggestive of EB, which is consistent with a previous report. 6 AEC syndrome should be strongly suspected when an infant who had erythroderma and cleft lip/palate at birth later develops recurrent infected scalp erosions. AEC syndrome has many clinical features in common with other ectodermal dysplasia syndromes such as ectrodactyly-ectodermal dysplasiaclefting (EEC) and Rapp-Hodgkin (RHS) syndrome.…”

Section: Discussionmentioning

confidence: 99%

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Ankyloblepharon–ectodermal dysplasia–clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work

Zhang

Cheng

Liang

et al. 2019

The Journal of Dermatology

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A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the p63 gene revealed a missense mutation Ile482Thr (c.1445T>C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Ankyloblepharon–ectodermal dysplasia–clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work

Zhang

Cheng

Liang

et al. 2019

The Journal of Dermatology

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“…We found that trachyonychia and twenty-nail dystrophy have been misdiagnosed in the literature in several cases [5,35,41,48,49,50,51,52](table 1). The diagnosis is often incorrectly based on the presence of dystrophic nail changes on all twenty nails, despite the fact that the nails do not show specific signs of trachyonychia.…”

Section: Resultsmentioning

confidence: 99%

Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy

Jacobsen

Tosti

2016

Skin Appendage Disord

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Background/Aims: The term trachyonychia, also known as twenty-nail dystrophy, is used to describe thin, brittle nails with excessive longitudinal ridging. The term twenty-nail dystrophy has been incorrectly applied to other conditions that can affect all twenty nails. Therefore, we have conducted a comprehensive review of the clinical features of trachyonychia and have included a discussion regarding the diagnostic accuracy of this condition in the literature. Methods: In November and December 2015, we conducted a thorough literature search using the following search terms: ‘trachyonychia', ‘twenty nail dystrophy', and ‘sandpaper nails'. Articles that reported the epidemiology, disease associations, clinical presentation, histopathology, and treatment options for trachyonychia were included. Particular attention was given to case reports to identify misdiagnosed cases of twenty-nail dystrophy. Results: Our preliminary search yielded 184 results with 72 unique articles ultimately selected for review. Excluded articles included 27 articles in languages other than English, 18 commentaries or reviews, and 67 irrelevant articles. Twelve additional articles described nail abnormalities clinically different from trachyonychia. Conclusion: Many other conditions can cause widespread nail dystrophy. The specific characteristics of trachyonychia need to be considered to make the diagnosis of twenty-nail dystrophy.

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Trachyonychia

Jacobsen¹,

Tosti²

2018

Scher and Daniel's Nails

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Syndrome in Question

Cited by 5 publications

References 5 publications

Ankyloblepharon–ectodermal dysplasia–clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work

Ankyloblepharon–ectodermal dysplasia–clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work

Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy

Trachyonychia

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