Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case

Yamamoto, Masaaki; Sakaguchi, Yoshiko; Itoh, Masakazu; Nakagawa, Noboru; Fukunaga, Atsushi; Hitomi, Kiyotaka; Yamanishi, Kiyofumi

doi:10.1111/j.1365-2133.2011.10594.x

Cited by 12 publications

(11 citation statements)

References 8 publications

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“…Genetic testing detected compound heterozygous mutations of TGM1. The mutations c.430G>A and c.919C>T led to p.G144R and p.R307W of TG1 in skin specimens taken from his severe and mild lesions, as previously reported (3). Fluorescence assay using FITC-pepK5 (5), a substrate specific to the TG1 enzyme, showed that the in situ TG1 activity was lower on the patient's lesional skin at 37°C and at 42°C than on the skin of healthy controls, but that the activity showed little change on the patient's lesional skin between 37°C and 42°C (data not shown).…”

Section: Case Reportsupporting

confidence: 57%

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

Washio¹,

Fukunaga²,

Terai³

et al. 2014

Acta Derm Venerol

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Section: Case Reportsupporting

confidence: 57%

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

Washio¹,

Fukunaga²,

Terai³

et al. 2014

Acta Derm Venerol

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“…This may account for the differential scaling observed in BSI, with greater disease manifestation at sites with relatively higher temperature, such as the trunk. More recently, several studies have identified additional mutations in TGM1 that contribute to BSI 62 – 64 , furthering the genetic understanding of this rare type of ichthyosis.…”

Section: Recent Advances In Ichthyosismentioning

confidence: 97%

Recent advances in understanding ichthyosis pathogenesis

Marukian

Choate

2016

F1000Res

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The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance. This nomenclature system divides DOK into two main groups: nonsyndromic forms, with clinical findings limited to the skin, and syndromic forms, with involvement of additional organ systems. Advances in next-generation sequencing technology have allowed for more rapid and cost-effective genetic analysis, leading to the identification of novel, rare mutations that cause DOK, many of which represent phenotypic expansion. This review focuses on new findings in syndromic and nonsyndromic ichthyoses, with emphasis on novel genetic discoveries that provide insight into disease pathogenesis.

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“…Bathing suit ichthyosis has always been associated with mutations in TGM1. Twenty-two molecularly characterized cases have been reported to date in the literature, 11,[14][15][16] in addition to 3 isolated observations under a different nomenclature but with a clinical description that corresponds to the BSI phenotype. [17][18][19] The largest ARCI phenotype-genotype correlation study to date included 206 families, of which 104 had mutations in TGM1; none of these patients had a BSI phenotype, indicating a very low frequency for this variant.…”

Section: Commentmentioning

confidence: 99%

Specific TGM1 Mutation Profiles in Bathing Suit and Self-Improving Collodion Ichthyoses

Bourrat¹,

Blanchet-Bardon²,

Derbois³

et al. 2012

Arch Dermatol

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Background: Bathing suit ichthyosis (BSI) and selfimproving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. Observations: We report genotypic and phenotypic data from a series of 9 patients who were collodion babies and developed BSI or SICI owing to mutations in the transglutaminase-1 gene (TGM1), including 3 previously unreported missense mutations. All of our patients with BSI or SICI carried at least 1 specific missense mutation in TGM1 concerning an arginine at position 307 or 315. In 2 patients, the disease evolved (BSI to SICI or BSI to au-tosomal recessive congenital ichthyosis). The remaining 7 patients exhibited a stable BSI phenotype after shedding of the collodion membrane. Conclusions: This study highlights the possibility of variable evolution of the phenotype of patients with identical mutations in the same gene. Combined with data from the literature, these findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a BSI and/or an SICI phenotype. This phenotypic variability also depends on other genetic and external factors.

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Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case

Cited by 12 publications

References 8 publications

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

Recent advances in understanding ichthyosis pathogenesis

Specific TGM1 Mutation Profiles in Bathing Suit and Self-Improving Collodion Ichthyoses

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