List of works - Takuya Takeichi

A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome

scientific article published on 15 May 2019

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

scientific article published on 5 August 2017

A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease

scientific article published on 13 October 2019

A patient with CARD14-associated papulosquamous eruptions showing atopic dermatitis-like features

scientific article published on 03 July 2020

A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only

scientific article published on 01 September 2019

Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

scientific article published on 30 July 2020

Acrodermatitis continua of Hallopeau with dense infiltration of IgG -positive cells in the lesional dermis

scientific article published on 27 December 2018

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation

scientific article published on 10 March 2017

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT

scientific article published on 25 September 2018

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

scientific article published on 27 October 2015

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

scientific article published on 31 July 2017

Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression

scientific article published on 29 May 2018

Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis

scientific article published on 10 January 2019

Case of adult-onset Still's disease with psoriasiform eruptions

scientific article published on 25 August 2018

Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B

scientific article published on 09 October 2019

Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia

scientific article published on 22 March 2018

Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case

scientific article published on 23 July 2020

Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation

scientific article published on 11 October 2020

Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations

scientific article published on 06 January 2020

Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab

scientific article published on 17 April 2018

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

scientific article published on 23 January 2017

Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient

scientific article published on 03 May 2019

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

scientific article

Familial or sporadic porokeratosis as an autoinflammatory keratinization disease

scientific article published on 28 September 2018

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

scientific article published on 25 January 2018

Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects

scientific article published on 01 April 2020

Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab

scientific article published on 15 October 2020

Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN.

scientific article published on 30 March 2017

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations

scientific article published on 03 May 2018

Hyaline vascular-type unicentric Castleman disease presenting as a subcutaneous nodule in a child

scientific article published on 29 August 2018

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

scientific article

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

scientific article

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

scientific article published on 25 June 2016

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1

scientific article published on 22 December 2020

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

scientific article

Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr

scientific article published on 25 June 2020

Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma

scientific article

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

scientific article published on 19 September 2016

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

scientific article

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

scientific article published on 06 July 2015

Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease.

scientific article published on 4 May 2017

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations

scientific article published on 06 August 2018

Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis

scientific article published on 06 January 2020

Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases

scientific article published on 17 September 2020

Two cases of generalized pustular psoriasis complicated by IgG4-related disease

scientific article published on 19 June 2018

Unilateral case of multiple minute digitate hyperkeratosis

scientific article published on 28 January 2019

Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder

scientific article published on 04 September 2019

List of works by Takuya Takeichi

A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease

A patient with CARD14-associated papulosquamous eruptions showing atopic dermatitis-like features

A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only

Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

Acrodermatitis continua of Hallopeau with dense infiltration of IgG -positive cells in the lesional dermis

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression

Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis

Case of adult-onset Still's disease with psoriasiform eruptions

Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B

Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia

Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case

Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation

Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations

Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

Familial or sporadic porokeratosis as an autoinflammatory keratinization disease

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects

Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab

Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN.

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations

Hyaline vascular-type unicentric Castleman disease presenting as a subcutaneous nodule in a child

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr

Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease.

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations

Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis

Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases

Two cases of generalized pustular psoriasis complicated by IgG4-related disease

Unilateral case of multiple minute digitate hyperkeratosis

Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder