Epidermolytic Palmoplantar Keratoderma Latest Advances

CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

Journal: Pediatric dermatology

Published: April 06, 2024

NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.

Journal: The international journal of cardiovascular imaging

Published: April 04, 2024

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Journal: Cardiology in the young

Published: March 04, 2024

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Journal: Clinical case reports

Published: November 27, 2023

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: October 24, 2023

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Journal: DNA and cell biology

Published: August 11, 2023

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Journal: Asian journal of surgery

Published: July 31, 2023

An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma.

Journal: The Journal of dermatology

Published: May 26, 2023

A Japanese case of Vörner-type palmoplantar keratoderma caused by a novel KRT1 variant.

Journal: The Journal of dermatology

Published: March 09, 2023

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.

Journal: Congenital anomalies

Published: February 16, 2023

Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: February 10, 2023

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

Journal: BMC medical genomics

Published: February 01, 2023

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CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.

NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma.

An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma.

A Japanese case of Vörner-type palmoplantar keratoderma caused by a novel KRT1 variant.

A Japanese case of Vörner-type palmoplantar keratoderma caused by a novel KRT1 variant.

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.

Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings.

Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings.

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.