A 2-Year-Old Girl With Skin Fragility

Mir-Bonafé, Juan Francisco; Baselga-Torres, E.; González‐Sarmiento, Rogelio

doi:10.1001/jamadermatol.2014.2772

Cited by 2 publications

(4 citation statements)

References 7 publications

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“…Histopathology reveals the extensive subcorneal cleavage in the epidermis with irregular acanthosis [ 247 ]. Elevated IgE and CDSN gene analysis are important clues to diagnosing PSS-B [ 259 ].…”

Section: Rare Syndromesmentioning

confidence: 99%

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Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Pan

Zhao

2022

Diagnostics

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Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, STAT5B deficiency, Omenn syndrome, atypical complete DiGeorge syndrome; metabolic disorders such as acrodermatitis enteropathy, multiple carboxylase deficiency, prolidase deficiency; and other rare syndromes like severe dermatitis, multiple allergies and metabolic wasting syndrome, Netherton syndrome, and peeling skin syndrome frequently perform with eczema-like lesions. These genodermatosis may be misguided in the context of eczematous phenotype. Misdiagnosis of severe disorders unavoidably affects appropriate treatment and leads to irreversible outcomes for patients, which underlines the importance of molecular diagnosis and genetic analysis. Here we conclude clinical manifestations, molecular mechanism, diagnosis and management of several eczema-related genodermatosis and provide accessible advice to physicians.

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Section: Rare Syndromesmentioning

confidence: 99%

“…005% calcipotriol ointment could reduce skin peeling and erythema [ 260 ]. PSS can usually be well managed with topical treatments and hygienic measures alone, and it seems to improve with age [ 259 ].…”

Section: Rare Syndromesmentioning

confidence: 99%

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Pan

Zhao

2022

Diagnostics

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“…

pathologies whose sporadic forms show a different inflammatory subset of the familial forms, passing from neurodegenerative diseases such as Parkinson's disease to colon cancer. 7,8 Considering the complex historically known involvement of the various actors of the immune system in the pathophysiology of psoriasis, 9 it is not unlikely that even for psoriasis differentiated inflammatory cascades can be identified on the basis of the aetiology of the condition. We are aware that our clinical observation will need to be implemented even in groups of patients treated with other anti-IL-17 (e.g.

…”

mentioning

confidence: 99%

“…3 Up to date, 13 different mutations in CDSN and large deletions encompassing the CDSN gene have been described in PSD patients (Table 1). [4][5][6][7][8][9] Among genodermatosis, there are well-established syndromic forms causing abnormalities in organs other than skin, which are regarded as multisystemic diseases. Although these syndromes are very rare, Netherton syndrome, Sj€ ogren-Larsson syndrome, Conradi-H€ unermann-Happle syndrome, among others, have been described as representative ones.…”

mentioning

confidence: 99%