Medicine by Alexandros G. Sfakianakis,Αλέξανδρος Γ. Σφακιανάκης

Dermatology
Early View

Online Version of Record before inclusion in an issue

Open Access

The refined Hurley classification: the inter‐rater and intrarater reliability and face validity

L.M. Prens, A. Rondags, R.J. Volkering, I.C. Janse, K. Politiek, Y.S. Zuidema, I. Turcan, J. van Hasselt, H.H. van der Zee, B. Horváth

Version of Record online: 29 August 2019

Clinical characteristics of primary cutaneous lymphoma: analysis from two centres in China

H.‐Z. Shi, Y.‐X. Liu, Y.‐Q. Jiang, S.‐L. Chen, X.‐L. Xu, X.‐M. Lu, W. Zhang, X.‐S. Zeng, G.‐Z. Zhou, J.‐F. Sun, H. Chen

Version of Record online: 29 August 2019

Toenail onychomycosis – it's no fungi to have around: treatment analysis to the rescue!

R. Morris‐Jones

Version of Record online: 29 August 2019

Defining lesional, perilesional and unaffected skin in hidradenitis suppurativa: proposed recommendations for clinical trials and translational research studies

J.W. Frew, K. Navrazhina, A.S. Byrd, A. Garg, J.R. Ingram, J.S. Kirby, M.A. Lowes, H. Naik, V. Piguet, E.P. Prens

Version of Record online: 29 August 2019

The association of scalp psoriasis with overall psoriasis severity and koebnerization in children: cross‐sectional findings from the Dutch Child‐CAPTURE registry

I.M.G.J. Bronckers, M. Maatkamp, W. Kievit, P.C.M. van de Kerkhof, E.M.G.J. de Jong, M.M.B. Seyger

Version of Record online: 27 August 2019

Evaluation of responsiveness and estimation of smallest detectable change and minimal important change scores for the Childhood Atopic Dermatitis Impact Scale

M. Gabes, S.L. Chamlin, J.‐S. Lai, D. Cella, A.J. Mancini, C.J. Apfelbacher

Version of Record online: 27 August 2019

What's already known about this topic?

Atopic dermatitis reduces the quality of life of affected children and their parents.
The Childhood Atopic Dermatitis Impact Scale (CADIS) has been evaluated and translated into two further languages.

What does this study add?

Further validation of the responsiveness of the CADIS, and whether it is sensitive to change in patients whose condition had changed.
Calculation of the smallest detectable change.

What are the clinical implications of this work?

Estimation of the minimal important change in CADIS provides benchmarks for clinical practice.

Rapid response of pityriasis rubra pilaris with psoriasis overlap to secukinumab

D. Cole, T. Mohammad, H. Lim

Version of Record online: 27 August 2019

Severity and Area Score for Hidradenitis (SASH): a novel outcome measurement for hidradenitis suppurativa

J.S. Kirby, M. Butt, T. King

Version of Record online: 27 August 2019

Validation of a questionnaire algorithm based on repeated open application testing with the constituents of fragrance mix I

M. Bruze, M. Engfeldt, R. Ofenloch, P. Elsner, M. Goncalo, M. Isaksson, L. Naldi, M.‐L. Schuttelaar, Å. Svensson, T. Diepgen

Version of Record online: 27 August 2019

Erdheim–Chester disease: how a dermatologist can help to diagnose an extremely rare serious disorder

C. Rose

Version of Record online: 27 August 2019

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

J.K. Simpson, M. Martinez‐Queipo, A. Onoufriadis, S. Tso, E. Glass, L. Liu, T. Higashino, W. Scott, C. Tierney, M.A. Simpson, R. Desomchoke, L. Youssefian, A.H SaeIdian, H. Vahidnezhad, A. Bisquera, J. Ravenscroft, C. Moss, E.A. O'Toole, N. Burrows, S. Leech, E.A. Jones, D. Lim, A. Ilchyshyn, N. Goldstraw, M.J. Cork, S. Darne, J. Uitto, A.E. Martinez, J.E. Mellerio, J.A. McGrath

Version of Record online: 26 August 2019

What's already known about this topic?

Recessive forms of ichthyosis are rare but often difficult to diagnose.
Mutations in 13 genes are known to cause recessive forms of ichthyosis: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4,PNPLA1, SDR9C7, SLC27A4, SULT2B1, ST14 and TGM1.
Some phenotypic features may associate with certain gene mutations, but paradigms for genotype–phenotype correlation need refining.

What does this study add?

The genotypic spectrum of recessive ichthyosis in England (based on 146 cases) comprises TGM1 (29%), NIPAL4 (12%), ABCA12 (12%), ALOX12B (9%), ALOXE3 (7%), SLC27A4 (5%), CERS3 (3%), CYP4F22 (3%), PNPLA1 (2%) and SDR9C7 (1%).
New or particular phenotypic clues were defined for mutations in ALOX12B, ABCA12, CYP4F22, NIPAL4, SDR9C7 and TGM1, either in neonates or in later life, which allow for greater diagnostic precision.
In around 17% of cases, the molecular basis of recessive ichthyosis remains unknown.