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Evaluating Patients' Unmet Needs in Hidradenitis Suppurativa

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Evaluating Patients' Unmet Needs in Hidradenitis Suppurativa Evaluating patients’ unmet needs in hidradenitis suppurativa: Results from the Global Survey Of Impact and Healthcare Needs (VOICE) Project Amit Garg, Erica Neuren, Denny Cha, Joslyn Kirby, John Ingram, Gregor B.E. Jemec, Solveig Esmann, Linnea Thorlacius, Bente Villumsen, Véronique Del Marmol, et al. To cite this version: Amit Garg, Erica Neuren, Denny Cha, Joslyn Kirby, John Ingram, et al.. Evaluating patients’ unmet needs in hidradenitis suppurativa: Results from the Global Survey Of Impact and Healthcare Needs (VOICE) Project. Journal of The American Academy of Dermatology, Elsevier, 2020, 82 (2), pp.366- 376. 10.1016/j.jaad.2019.06.1301. pasteur-02547249 HAL Id: pasteur-02547249 https://hal-pasteur.archives-ouvertes.fr/pasteur-02547249 Submitted on 19 Apr 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. LETTERS TO THE EDITOR A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia Journal of Investigative Dermatology (2019) -, -e-; doi:10.1016/j.jid.2019.06.154 TO THE EDITOR synechiae (IV.5). Altogether, these mi- ectodermal, orofacial, and limb devel- TP63 mutations are the primary source nor ectodermal abnormalities sug- opment (Rinne et al., 2007). The use of of several autosomal dominant ecto- gested an unclassified form of different transcription initiation sites dermal dysplasias, which are charac- ectodermal dysplasias. and alternative splicing generates terized by various combinations of We performed a linkage study by several TP63 isoforms (DN or TA and limb, ectodermal, and orofacial abnor- using single nucleotide polymorphisms a, b, g, d,orε, respectively). malities (Rinne et al., 2007). We and whole-exome sequencing in five TP63 mutations cause ectrodactyly, describe a family with prominent alo- members of a family (Figure 1). The ectodermal dysplasia, and cleft lip/palate pecia and mild ectodermal dysplasias linkage study analysis revealed no syndrome (EEC); acro-dermato-ungual- features, which co-segregate with a genomic locus with a significant lacrimal-tooth syndrome (ADULT); TP63 mutation. signal. The maximum value of linkage ankyloblepharon-ectodermal defects- The institutional review board of CPP (logarithm of odds score ¼ 0.6021) cleft lip/palate (AEC); RappeHodgkin Ile-de-France, Paris, approved this was observed in 25 genomic and limb mammary syndromes; isolated study. Subjects or parents provided regions (Supplementary Table S1). split hand/foot malformation 4; and non- written informed consent to participate Variants identified by whole-exome syndromic cleft lip (Supplementary in this study along with the consent to sequencing were selected based on Table S3)(Rinne et al., 2007). The publish their images. an autosomal dominant model, which p.Trp192Arg mutation is localized in the An autosomal dominant inheritance was caused by a rare heterozygous p63 DNA-binding domain (DBD) pattern was observed in the studied mutation. Variants present in the da- (Supplementary Figures S1 and S2) family, which belonged to the Algerian tabases or previously observed in the (Enthartetal.,2016). This residue, buried ancestry (Figure 1). All patients had in-house exomes with a minor allele in the protein structure, is not known coarse and uncombable hair since frequency > 1were excluded. Het- forbeingakeyresidueforDNA birth, later persisting into adulthood. erozygous coding or splicing variants binding (Supplementary Figure S2); Alopecia was developed around 25 thatwerepredictedtobedamagingby however, it is predicted to result in years of age, first starting in the the in silico prediction tools were protein instability and malfunction by parieto-temporal areas and further selected, thereby leading to an iden- computational tools (Supplementary progressing to almost complete non- tification of nine variants segregating Table S4). This residue introduces an scarring hair loss in men after 50 with the disease and located within uncompensated positive charge and years of age or it was restricted to the one of the regions with a logarithm of cause the loss of interaction mediated parieto-temporal areas in female pa- odds score of 0.6021 (Supplementary by the Trp side chain. It is expected to tient IV.5 that was clinically similar to Table S2). Eight of these variants cause steric clashes in every possible alopecia areata (Figure 1). In addition, were confirmed by Sanger sequencing, side chain conformation, thereby body hair was sparse or absent along and these were subsequently assuming that the overall structure with scanty eyebrows and eyelashes. A sequenced in nine additional family does not change (Supplementary careful examination revealed addi- members. Only one variant was Figure S2). Hence, the local structure tional subtle ectodermal abnormalities segregated with the disease. In is predicted to be disrupted and affect (onychodystrophia of the first toe, ich- contrast to unaffected individuals, all the p63 function. To assess the conse- thyosis, and hypohidrosis), lacrimal patients were heterozygous for the quences of the p.Trp192Arg mutation, duct atresia, and photophobia c.574T > C variant (NM_003722) wild-type or mutant proteins, contain- (Figure 1). Patient IV.5 had oral and within the TP63 gene leading to ing either the p.Trp192Arg or the palate cleft at birth. Patient IV.8 had p.Trp192Arg (NP_003713). This previously reported p.Arg343Gln EEC bifidal uvula and severe keratitis. All variant had not been previously re- and p.Leu553Phe AEC mutations, patients had yellow teeth without an ported and involved a highly localized in the DBD and the sterile- early loss or abnormal shape. Other conserved residue among species. a-motif domain, respectively, were anomalies included unexplored gy- TP63 encodes the transcription factor assayed for their ability to transactivate necomastia (III.8) and vaginal p63, which is a key regulator of a reporter gene under the control of the KRT14 promoter gene. In contrast to D a Abbreviations: ADULT, acro-dermato-ungual-lacrimal-tooth syndrome; AEC, ankyloblepharon- the wild-type Np63 , which showed ectodermal defects-cleft lip/palate; DBD, DNA-binding domain; EEC, ectrodactyly, ectodermal a potent transactivation, EEC and AEC dysplasia, and cleft lip/palate syndrome mutants failed to drive the expression Accepted manuscript published online 28 June 2019; corrected proof published online XXXX of the reporter gene as previously re- ª 2019 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology. ported (Figure 2). Conversely, the www.jidonline.org 1 S Duchatelet et al. Alopecia by TP63 mutation Figure 1. Family pedigree and clinical features. (a) Family pedigree. This family comprises 14 affected and 13 unaffected individuals. The first individuals who were studied by exome sequencing are indicated in red, whereas the individuals who were subsequently studied are indicated in green. Patient IV.7 who died from sudden infant death had coarse hair, further suggesting that she was also affected. (bep) Clinical features. Clinical presentation of patients (bef) III.8 at 63 years, (gek) IV.5 at 41 years, and (lep) IV.8 at 13 years. (bed), (gei), and (len) Hair abnormalities, and (bed) and (gei) hair loss, abnormal toe nails are restricted (e and o) to the first toe or (j) it involves all toes and (f, k, and p)dry skin with mild ichthyosis. Of note, patient IV.8 has not yet developed alopecia because of his age. Subjects or parents consented to the publication of their images. p.Trp192Arg mutant presented with a DNp63g and TAp63a isoforms. In no effect was observed on TAp63b slightly increased transactivation ac- contrast, the p.Trp192Arg mutant dis- and TAp63g isoforms. Other TP63 tivity than the wild-type (Figure 2). played a decreased transactivation mutations are known to increase Similar results were obtained with activity on the DNp63b isoform, and isoform-specific, promoter-dependent 2 Journal of Investigative Dermatology (2019), Volume - S Duchatelet et al. Alopecia by TP63 mutation Ste´phanie Mallet: https://orcid.org/0000-0003- 2884-0645 Christine Bole-Feysot: https://orcid.org/0000- 0002-1935-3063 Patrick Nitschke´: https://orcid.org/0000-0002- 2094-3298 Marie-Aleth Richard: https://orcid.org/0000-0002- 0870-9132 Volker Do¨tsch: https://orcid.org/0000-0001-5720- 212X Caterina Missero: https://orcid.org/0000-0003- 0905-5123 Aude Nassif: https://orcid.org/0000-0002-2407- 0834 Alain Hovnanian: https://orcid.org/0000-0003- 3412-7512 CONFLICT OF INTEREST The authors state no conflict of interest. ACKNOWLEDGMENTS We are grateful to the family for its participation in Figure 2. Effects of TP63 mutations on the transactivation activity of the Keratin 14 promoter. The this study, and to Mr and Mrs Sellin for their mutant transactivation activity is indicated as the percentage of the corresponding wt counterpart donation. isoform. Reported assay demonstrated that the p.Trp192Arg TP63 mutant has an increased transactivation activity on DNp63a, DNp63g, and TAp63a isoforms, a decreased transactivation activity on DNp63b, AUTHOR CONTRIBUTIONS and no
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