Lista de obras -

A case of late middle age-onset recurrent rheumatic fever

artículo científico publicado en 2019

Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

artículo científico publicado en 2020

Antiphospholipid antibody-positive Sjögren's syndrome with leg ulcers

artículo científico publicado en 2019

Atopic dermatitis without serum immunoglobulin E elevation or loss-of-function filaggrin gene mutation in a patient with X-linked agammaglobulinemia

scientific article published on 27 November 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

scientific article published on 10 January 2019

CD1a-positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation

artículo científico publicado en 2017

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 herpes zoster complicated with paralysis of the recurrent and glossopharyngeal nerves

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Child case of Buruli ulcer successfully treated through a school-based skin survey project in Côte d'Ivoire

scientific article published on 14 November 2019

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

scientific article published on 23 July 2020

Clinical practice guide for the treatment of perforating dermatosis

artículo científico publicado en 2020

Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases

scientific article published on 01 March 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Dermoscopic features of endocrine mucin-producing sweat gland carcinoma.

artículo científico publicado en 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

artículo científico publicado en 2014

Equestrian cold panniculitis in a cold-storage-room worker

scientific article published on 10 January 2019

Familial or sporadic porokeratosis as an autoinflammatory keratinization disease

artículo científico publicado en 2018

Frequent FOXA1-Activating Mutations in Extramammary Paget's Disease

artículo científico publicado en 2020

Ganciclovir pre-emptive therapy for cytomegalovirus antigenemia in a pemphigus vulgaris patient

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Highly variable clinical feature and course of aggressive digital papillary adenocarcinoma

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Increased healthcare costs for filaggrin-related eczema and asthma: hope for targeted management and prevention

scientific article published on 01 September 2018

Indeterminate dendritic cell neoplasm accompanied by eosinophilic pneumonia successfully treated by systemic steroid therapy: Report of the first case with muscular and parotid involvement and review of published work

scientific article published on 15 October 2018

Japanese guidelines for the management and treatment of generalized pustular psoriasis: The new pathogenesis and treatment of GPP

artículo científico publicado en 2018

Japanese real-world study of sequential nivolumab and ipilimumab treament in melanoma

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Multiple pebble-like ectopic nails as a subsequent complication of phenol cauterization treatment for onychocryptosis

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development

scientific article published on 01 July 2020

Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab

artículo científico publicado en 2020

Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis

scientific article published on 06 January 2020

Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus

scientific article published on 12 July 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 refractory nail psoriasis successfully treated with calcipotriol plus betamethasone dipropionate gel

artículo científico publicado en 2020

Unilateral case of multiple minute digitate hyperkeratosis

scientific article published on 28 January 2019

Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy

scientific article published on 26 July 2018

Whole-exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

scientific article published on 24 September 2020

Lista de obras de

A case of late middle age-onset recurrent rheumatic fever

Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

Antiphospholipid antibody-positive Sjögren's syndrome with leg ulcers

Atopic dermatitis without serum immunoglobulin E elevation or loss-of-function filaggrin gene mutation in a patient with X-linked agammaglobulinemia

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

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

CD1a-positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation

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

Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B

Case of herpes zoster complicated with paralysis of the recurrent and glossopharyngeal nerves

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

Child case of Buruli ulcer successfully treated through a school-based skin survey project in Côte d'Ivoire

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

Clinical practice guide for the treatment of perforating dermatosis

Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases

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

Dermoscopic features of endocrine mucin-producing sweat gland carcinoma.

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

Equestrian cold panniculitis in a cold-storage-room worker

Familial or sporadic porokeratosis as an autoinflammatory keratinization disease

Frequent FOXA1-Activating Mutations in Extramammary Paget's Disease

Ganciclovir pre-emptive therapy for cytomegalovirus antigenemia in a pemphigus vulgaris patient

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

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

Highly variable clinical feature and course of aggressive digital papillary adenocarcinoma

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

Increased healthcare costs for filaggrin-related eczema and asthma: hope for targeted management and prevention

Indeterminate dendritic cell neoplasm accompanied by eosinophilic pneumonia successfully treated by systemic steroid therapy: Report of the first case with muscular and parotid involvement and review of published work

Japanese guidelines for the management and treatment of generalized pustular psoriasis: The new pathogenesis and treatment of GPP

Japanese real-world study of sequential nivolumab and ipilimumab treament in melanoma

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

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

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 pebble-like ectopic nails as a subsequent complication of phenol cauterization treatment for onychocryptosis

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

Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development

Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab

Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis

Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus

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

Two cases of refractory nail psoriasis successfully treated with calcipotriol plus betamethasone dipropionate gel

Unilateral case of multiple minute digitate hyperkeratosis

Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy

Whole-exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity