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( Elif Keleş Gülnerman ),( Nurcan Hanedan ),( Merve Akillioglu ),( Gülsüm Kayhan ),( Esra Adişen ),( Özlem Erdem ),( İbrahim Murat Hirfanoğlu ),( Ebru Ergenekon ),( Eray Esra Önal ),( Canan Türkyilmaz 대한피부과학회 2023 Annals of Dermatology Vol.35 No.7
Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.
Elif Keleş Gülnerman,Nurcan Hanedan,Merve Akillioglu,Gülsüm Kayhan,Esra Adişen,Özlem Erdem,İbrahim Murat Hirfanoğlu,Ebru Ergenekon,Eray Esra Önal,Canan Türkyilmaz,Esin Koç 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-
Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as col- lodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome se- quencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozy- gous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.
Internalized Stigma in Pediatric Psoriasis: A Comparative Multicenter Study
( Erkan Alpsoy Mualla Polat ),( Ibrahim Halil Yavuz ),( Pelin Kartal ),( Didem Didar Balci ),( Ayse Serap Karadag ),( Asli Bilgic Ercan Arca ),( Bilge Fettahlioglu Karaman ),( Selma Emre ),( Esra Adis 대한피부과학회 2020 Annals of Dermatology Vol.32 No.3
Background: Internalized stigma, adoption of negative attitudes and stereotypes of the society regarding persons’ illness, has not been studied previously in pediatric psoriasis patients. Objective: We aimed to investigate the internalized stigma in pediatric psoriasis patients and to determine differences according to factors affecting internalized stigma compared to adult psoriasis patients. Methods: This multicenter, cross-sectional, comparative study included 125 pediatric (55 female, 70 male; mean age±standard deviation [SD], 14.59±2.87 years) and 1,235 adult psoriasis patients (577 female, 658 male; mean age±SD, 43.3±13.7 years). Psoriasis Internalized Stigma Scale (PISS), Dermatology Life Quality Index (DLQI), Perceived Health Status (PHS), and the General Health Questionnaire (GHQ)-12 were the scales used in the study. Results: The mean PISS was 58.48±14.9 in pediatric group. When PISS subscales of groups were compared, the pediatric group had significantly higher stigma resistance (p=0.01) whereas adult group had higher scores of alienation (p=0.01) and stereotype endorsement (p=0.04). There was a strong correlation between mean values of PISS and DLQI (r=0.423, p=0.001). High internalized stigma scores had no relation to either the severity or localization of disease in pediatric group. However, poor PHS (p=0.007) and low-income levels (p=0.03) in both groups, and body mass index (r=0.181, p=0.04) in the pediatric group were related to high PISS scores. Conclusion: Internalized stigma in pediatric patients is as high as adults and is related to poor quality of life, general health, and psychological illnesses. Unlike adults, internalized stigma was mainly determined by psoriasis per se, rather than disease severity or involvement of visible body parts, genitalia or folds. (Ann Dermatol 32(3) 181∼188, 2020)