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Autosomal recessive congenital ichthyoses (ARCI) in a “bathing‐suit” distribution: progression over time

2021 ◽  
Author(s):  
María Arteaga‐Henríquez ◽  
Leonie Frommherz ◽  
Judith Fischer ◽  
Cristina Has
Keyword(s):  
Autosomal Recessive ◽  
Bathing Suit ◽  
Over Time

Bathing suit ichthyosis: report of a case in a Senegalese patient

2020 ◽  
Vol 59 (7) ◽  
Author(s):  
Javier Martín‐Alcalde ◽  
Elena Naz‐Villalba ◽  
Ana Pampín‐Franco ◽  
José L. López‐Estebaranz
Keyword(s):  
Bathing Suit

scholarly journals Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

2020 ◽  
pp. 0
Author(s):  
N Tani ◽  
N Yamada ◽  
T Okazaki ◽  
T Horie ◽  
H Nakano ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patient ◽  
Bathing Suit

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature

2019 ◽  
Vol 37 (1) ◽  
pp. 165-170
Author(s):  
Wendy Li ◽  
Kate E. Oberlin ◽  
Theodore E. Wilson ◽  
Anita N. Haggstrom
Keyword(s):  
Review Of The Literature ◽  
Bathing Suit

scholarly journals Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Dharshini Sathishkumar ◽  
Dincy Peter ◽  
Susanne Pulimood ◽  
Henning Wiegmann ◽  
Frederic Valentin ◽  
...  
Keyword(s):  
Rare Variant ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Temperature Sensitive ◽  
Congenital Ichthyosis ◽  
Indian Patients ◽  
Transglutaminase 1 ◽  
Bathing Suit ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Temperature Sensitive Phenotype

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

scholarly journals Bathing suit ichthyosis

2018 ◽  
Vol 19 (4) ◽  
pp. 344
Author(s):  
SahanaM Srinivas ◽  
Rachana Shekar ◽  
Ravi Hiremagalore
Keyword(s):  
Bathing Suit

scholarly journals Acute Foreskin Strangulation Injury due to Bathing Suit Mesh Entrapment

2017 ◽  
Vol 13 ◽  
pp. 85-86 ◽  
Author(s):  
Arvind Krishnan ◽  
Barrett McCormick ◽  
Hubert Swana ◽  
Mark Rich
Keyword(s):  
Bathing Suit ◽  
Strangulation Injury

scholarly journals Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis

2017 ◽  
Vol 153 (6) ◽  
pp. 537 ◽  
Author(s):  
Nareh V. Marukian ◽  
Rong-Hua Hu ◽  
Brittany G. Craiglow ◽  
Leonard M. Milstone ◽  
Jing Zhou ◽  
...  
Keyword(s):  
Bathing Suit
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