Early Development of Multiple Epithelial Neoplasms in Netherton Syndrome

Krasagakis, Konstantinos; Ioannidou, Despoina; Stephanidou, M.; Manios, Andreas; Panayiotides, John; Tosca, Androniki

doi:10.1159/000071791

Cited by 41 publications

(22 citation statements)

References 12 publications

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“…The risk for testicular, skin cancer and lymphomas in patients with ichthyosis are discussed in several studies, but irradiation was not used to treat the tumor or radiation complications were not scored [13][14][15][16][17]. Therefore, whether ichthyosis does or does not increase the cellular radiosensitivity will not be known until more cases are reported.…”

Section: Discussionmentioning

confidence: 99%

Subcutaneous Calcification as a Delayed Complication of Radiotherapy: A Case Report and Review of the Literature

Zaka

Fodor

Udvarhelyi

et al. 2008

Pathol. Oncol. Res.

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Subcutaneous calcification following radiotherapy is a very rare late complication. Here we report a case of radiotherapy for Hodgkin's disease in a patient with ichthyosis. Our review of the literature revealed that subcutaneous calcifications occurred in previously normal skin following irradiation. In our case the calcification developed in abnormal skin after telecobalt radiotherapy for mediastinal Hodgkin's disease. Ichthyosis is a systemic cutaneous disease and may increase the risk of late radiation complications.

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Section: Discussionmentioning

confidence: 99%

Subcutaneous Calcification as a Delayed Complication of Radiotherapy: A Case Report and Review of the Literature

Zaka

Fodor

Udvarhelyi

et al. 2008

Pathol. Oncol. Res.

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“…Hair abnormalities are remarkably variable: classically, hair is short, brittle, spiky, sparse and slow-to-grow, but can have a normal appearance. Severe complications include human papillomaviruses infections (Folster-Holst et al, 1999;Weber et al, 2001) and squamous cell carcinoma (Hintner et al, 1980;Saghari et al, 2002;Krasagakis et al, 2003;Hatano et al, 2005;Li et al, 2011;Natsuga et al, 2011;van der Voort and Prens, 2013), which question whether NS predisposes to HPV infections or to epithelial skin cancers.…”

Section: Inhibitormentioning

confidence: 99%

Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy

Furio¹,

Hovnanian²

2014

Biological Chemistry

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Netherton syndrome (NS) is an orphan genetic skin disease with a profound skin barrier defect and severe allergic manifestations. NS is caused by loss of function mutations in SPINK5 encoding lympho-epithelial Kazal-type inhibitor (LEKTI), a secreted multi-domain serine protease inhibitor expressed in stratified epithelia. Studies in mouse models and in NS patients have established that unopposed kallikrein 5 activity triggers stratum corneum detachment and activates PAR-2 signaling, leading to the autonomous production of pro-allergic and pro-inflammatory mediators. This emerging knowledge on NS pathogenesis has highlighted a central role for protease regulation in skin homeostasis but also in the complexity of the disease, and holds the promise of new specific treatments.

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“…A number of other cornification disorders have been associated with an increased prevalence of squamous cell carcinoma, including KID syndrome, 38 HoweleEvans syndrome, 39 Huriez syndrome, 40 and, recently, Netherton's syndrome. 41 Of note is the description of partial cutaneous expression of Olmsted syndrome in two families. In one of them the mother 3 of a boy 4 with full-blown Olmsted syndrome presented the typical mutilating PPK but had no periorificial hyperkeratoses.…”

Section: Other Manifestationsmentioning

confidence: 99%