Cover Image

A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN

A 54-year-old Japanese woman had repetitive superficial skin peeling and ensuing erythematous changes in the sites since infancy. Her parents had a consanguineous marriage, and she was the only individual affected in her family tree. The erythematous changes seemed to worsen in the summer. Histologi...

Full description

Saved in:

Bibliographic Details
Main Authors:	Hiroshi Kawakami (Author), Masaki Uchiyama (Author), Tatsuo Maeda (Author), Takahiko Tsunoda (Author), Yoshihiko Mitsuhashi (Author), Ryoji Tsuboi (Author)
Format:	Book
Published:	Karger Publishers, 2014-10-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Erythema Dyschromicum Perstans: Identical to Ashy Dermatosis or Not
by: Takafumi Numata, et al.
Published: (2015)

Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient
by: Jade Conway, BA, et al.
Published: (2024)

A case of microscopic polyangiitis initially presented with erythema multiforme‐like skin eruptions
by: Ayaka Nogita, et al.
Published: (2020)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
by: Le Huu Doanh, MD, PhD, et al.
Published: (2021)

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
by: Zafar Ali, et al.
Published: (2017)

Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene
by: Joseph A. Moore MD, et al.
Published: (2020)

Functional differences of short and long isoforms of spastin harboring missense mutation
by: Clément Plaud, et al.
Published: (2018)

The urine as a diagnostic key for a homozygous EGFR mutation
by: Mafalda Casinhas Santos, et al.
Published: (2022)

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease
by: Muhammad Imran Naseer, et al.
Published: (2022)

Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.
by: S Jalal Pourhashemi, et al.
Published: (2014)

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
by: Brynjar O. Jensson, et al.
Published: (2017)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
by: Kheloud M. Alhamoudi, et al.
Published: (2020)

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease
by: Sumaira Kanwal, et al.
Published: (2021)

Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction
by: Alberto Spalice, et al.
Published: (2009)

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
by: Zufit Hexner-Erlichman, et al.
Published: (2022)

Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys
by: Sang Gyun Lee, et al.
Published: (2022)

Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China
by: Mei Q, et al.
Published: (2023)

Novel missense mutations of the <it>Deleted-in-AZoospermia-Like (DAZL) </it>gene in infertile women and men
by: Cedars Marcelle I, et al.
Published: (2006)

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis
by: George D. Glinos, BS, et al.
Published: (2018)

Neonatal marfan syndrome due to missense mutation in exon 26 of fbn1 gene
by: Hitesh Patel, et al.
Published: (2021)

A missense founder mutation in <it>VLDLR</it> is associated with Dysequilibrium Syndrome without quadrupedal locomotion
by: Ali Bassam R, et al.
Published: (2012)

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
by: Lu Cao, et al.
Published: (2021)

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
by: Zhengrong Wang, et al.
Published: (2023)

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
by: Adrienn Sulák, et al.
Published: (2018)

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF
by: Isabell Popp, et al.
Published: (2018)

A <it>novel </it>heterozygous <it>missense </it>mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
by: Clemente Carla, et al.
Published: (2005)

A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome
by: Surya Ravindran, et al.
Published: (2021)

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
by: Oyazato Yoshinobu, et al.
Published: (2007)

High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
by: Zachary A. Kopelman, et al.
Published: (2021)

A novel homozygous mutation in the PADI6 gene causes early embryo arrest
by: Xiaoxia Wang, et al.
Published: (2022)

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene
by: Sarah Catharina Grünert, et al.
Published: (2011)

Modulation of PC1/3 activity by a rare double-site homozygous mutation
by: Yanyan Ni, et al.
Published: (2022)

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
by: Christiaan F. Mooij, et al.
Published: (2021)

Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature
by: Gong D, et al.
Published: (2023)

Peeling Skin Syndrome
by: Bandyopadhyay Debabrata, et al.
Published: (1997)

Peeling Skin Syndrome
by: Sentamilselvi G, et al.
Published: (1997)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
by: Wei-Ting Tu, et al.
Published: (2020)

A computational approach to analyze the missense mutations in human angiogenin variants leading to amyotrophic lateral sclerosis
by: K. Sreevishnupriya, et al.
Published: (2013)