Narrowband <scp>UVB</scp> phototherapy as a novel treatment for Netherton syndrome

Kaminska, Edidiong Celestine Ntuen; Ortel, Bernhard; Sharma, Vishakha; Stein, Sarah L.

doi:10.1111/j.1600-0781.2012.00655.x

Cited by 15 publications

(12 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The efficacy of phototherapy was reported in a few case reports, in four children treated with narrowband UVB and in two adults treated with psoralen–UVA (PUVA) or UVA‐1 . Short‐term efficacy was reported in all but one .…”

Section: Particularities Of Congenital Ichthyosismentioning

confidence: 99%

Management of congenital ichthyoses: European guidelines of care, part two

et al. 2018

View full text Add to dashboard Cite

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.

show abstract

Section: Particularities Of Congenital Ichthyosismentioning

confidence: 99%

Management of congenital ichthyoses: European guidelines of care, part two

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Istnieją doniesienia o skutecznej terapii dożylnymi wlewami immunoglobulin [3]. Podejmowano również próby leczenia przy użyciu infliksymabu, UVA, UVB, PUVA -ze zmiennym efektem [16][17][18]. Ze względu na różnorodność obrazu klinicznego, złożoność etiopatogenezy i częste powikłania terapia zespołu Comèla-Nethertona jest dużym wyzwaniem.…”

Section: Opis Przypadkuunclassified

Comèl-Netherton syndrome –

Błażewicz¹,

Rustowska²,

Wilkowska³

et al. 2014

View full text Add to dashboard Cite

StreSzczenieWprowadzenie. Zespół Comèla-Nethertona jest rzadką, dziedziczoną autosomalnie recesywnie genodermatozą charakteryzującą się występowaniem wrodzonej erytrodermii ichtiotycznej, rybiej łuski linijnej okrążającej, obecnością włosów bambusowatych i skazy atopowej. Zespół ten spowodowany jest mutacją w genie SPINK 5, kodującym inhibitor proteazy serynowej LEKTI. Cel pracy. W pracy przedstawiono trudności diagnostyczne i terapeutyczne u pacjenta z rozpoznaniem zespołu Comèla-Nethertona. Opis przypadku. Przedstawiamy przypadek 3-letniego chłopca, u którego od pierwszej doby życia obserwowano uogólnioną erytrodermię ichtiotyczną i rozlane, grubopłatowe złuszczanie naskórka. Diagnostyka różnicowa obejmowała zespół Omenna, atopowe zapalenie skóry, łojotokowe zapalenie skóry oraz niepęcherzową wrodzoną erytrodermię ichtiotyczną. Ostatecznie na podstawie badania mikroskopowego, w którym wykazano obecność włosów bambusowatych, oraz całokształtu obrazu klinicznego rozpoznano zespół Comèla-Nethertona. Wnioski. Ze względu na podobieństwo do innych erytrodermii rozpoznanie zespołu Comèla-Nethertona w pierwszych miesiącach życia stwarza problemy, a u starszych dzieci nawracające infekcje skóry oraz nasilenie skazy atopowej są przyczyną trudności terapeutycznych i wymagają współpracy wielu specjalistów. AbStrActIntroduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions.Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic zespół comèla-nethertona -opis przypadku comèl-netherton syndrome -case report izabela błażewicz, Alicja rustowska, Aleksandra Wilkowska, roman J. nowicki Katedra i Klinika Dermatologii, Wenerologii i Alergologii Gdańskiego Uniwersytetu Medycznego

show abstract

“…There is no approved drug hitherto to specifically treat NS. Treatment is currently symptomatic only, based on emollients and topical steroids, with reports of calcineurin inhibitors [10], immunoglobulin replacement [11], anti-Tumor Necrosis Factor α antibody Infliximab [12], and phototherapy [13]. Most recently, a specific NS treatment based on gene therapy has also been under development [14].…”

Section: Introductionmentioning

confidence: 99%

Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold – A Potential Therapeutic Intervention for Skin Diseases

Chen¹,

Kinsler²,

Macmillan

et al. 2016

PLoS ONE

View full text Add to dashboard Cite

Tissue kallikreins (KLKs), in particular KLK5, 7 and 14 are the major serine proteases in the skin responsible for skin shedding and activation of inflammatory cell signaling. In the normal skin, their activities are controlled by an endogenous protein protease inhibitor encoded by the SPINK5 gene. Loss-of-function mutations in SPINK5 leads to enhanced skin kallikrein activities and cause the skin disease Netherton Syndrome (NS). We have been developing inhibitors based on the Sunflower Trypsin Inhibitor 1 (SFTI-1) scaffold, a 14 amino acids head-to-tail bicyclic peptide with a disulfide bond. To optimize a previously reported SFTI-1 analogue (I10H), we made five analogues with additional substitutions, two of which showed improved inhibition. We then combined those substitutions and discovered a variant (Analogue 6) that displayed dual inhibition of KLK5 (tryptic) and KLK7 (chymotryptic). Analogue 6 attained a tenfold increase in KLK5 inhibition potency with an Isothermal Titration Calorimetry (ITC) Kd of 20nM. Furthermore, it selectively inhibits KLK5 and KLK14 over seven other serine proteases. Its biological function was ascertained by full suppression of KLK5-induced Protease-Activated Receptor 2 (PAR-2) dependent intracellular calcium mobilization and postponement of Interleukin-8 (IL-8) secretion in cell model. Moreover, Analogue 6 permeates through the cornified layer of in vitro organotypic skin equivalent culture and inhibits protease activities therein, providing a potential drug lead for the treatment of NS.

show abstract

Narrowband UVB phototherapy as a novel treatment for Netherton syndrome

Cited by 15 publications

References 5 publications

Management of congenital ichthyoses: European guidelines of care, part two

Management of congenital ichthyoses: European guidelines of care, part two

Comèl-Netherton syndrome –

Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold – A Potential Therapeutic Intervention for Skin Diseases

Contact Info

Product

Resources

About