Keith A. Choate
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View article: Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the <i>DSP</i> Mutational Spectrum Beyond Proline Substitutions
Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the <i>DSP</i> Mutational Spectrum Beyond Proline Substitutions Open
Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin …
View article: Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease
Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease Open
View article: 0523 Choice of dermal scaffold affects molecular differentiation of three-dimensional human epidermal equivalents
0523 Choice of dermal scaffold affects molecular differentiation of three-dimensional human epidermal equivalents Open
View article: Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratode…
View article: Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Since the 2010 classification of ichthyoses, our understanding of hereditary epidermal differentiation disorders (EDDs) has markedly increased, allowing for consideration of new therapeutic targets based on disease pathogenesis. A new gene…
View article: Interview with Keith Choate
Interview with Keith Choate Open
View article: Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
More than 50 palmoplantar epidermal differentiation disorders (pEDDs) have been reported in the literature. Various descriptors have been used to name these conditions, including clinical features often designated as acronyms or evocative …
View article: Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment Open
Darier disease (DD) is a rare severe acantholytic skin disease caused by mutations in the ATP2A2 gene that encodes for the sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2). SERCA2 maintains endoplasmic reticulum calcium homeos…
View article: Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab
Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab Open
View article: How Efforts to Understand Somatic Mosaicism Will Impact Dermatology
How Efforts to Understand Somatic Mosaicism Will Impact Dermatology Open
View article: Topical trametinib for epidermal and sebaceous nevi in a child with <scp>Schimmelpenning‐Feuerstein‐Mims</scp> syndrome
Topical trametinib for epidermal and sebaceous nevi in a child with <span>Schimmelpenning‐Feuerstein‐Mims</span> syndrome Open
We present the case of a 20‐month‐old girl with Schimmelpenning‐Feuerstein‐Mims (SFM) syndrome with extensive head, neck, and torso skin involvement successfully managed with topical trametinib. Trametinib interferes downstream of KRAS and…
View article: Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe <i>In Situ</i> Gene Editing in Human Skin
Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe <i>In Situ</i> Gene Editing in Human Skin Open
Despite exciting advances in gene editing, the efficient delivery of genetic tools to extrahepatic tissues remains challenging. This holds particularly true for the skin, which poses a highly restrictive delivery barrier. In this study, we…
View article: Association of Somatic <i>ATP2A2</i> Damaging Variants With Grover Disease
Association of Somatic <i>ATP2A2</i> Damaging Variants With Grover Disease Open
Importance Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown…
View article: Clinical features in adults with acquired cutis laxa: a retrospective review
Clinical features in adults with acquired cutis laxa: a retrospective review Open
Acquired cutis laxa (ACL) is a very rare dermatological condition with numerous proposed aetiologies. Herein, we report on 10 adult patients with ACL, three of which were found to have genetic mutations suggesting a genetic predisposition …
View article: JAAD Case Reports article list
JAAD Case Reports article list Open
View article: Assessing Cutaneous Mosaicism at the Molecular Level
Assessing Cutaneous Mosaicism at the Molecular Level Open
View article: Segmental basaloid follicular hamartomas derive from a post‐zygotic <scp>SMO</scp> p.<scp>L412F</scp> pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Segmental basaloid follicular hamartomas derive from a post‐zygotic <span>SMO</span> p.<span>L412F</span> pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas Open
Basaloid follicular hamartomas (BFH) are benign small basaloid skin tumors that can present as solitary or multiple lesions. Congenital BFH lesions arranged in a segmental distribution have been described, suggesting they derive from a som…
View article: Inflammatory linear verrucous epidermal nevus (<scp>ILVEN</scp>) encompasses a spectrum of inflammatory mosaic disorders
Inflammatory linear verrucous epidermal nevus (<span>ILVEN</span>) encompasses a spectrum of inflammatory mosaic disorders Open
Background Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case wit…
View article: Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review
Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review Open
View article: Secukinumab responses vary across the spectrum of congenital ichthyosis in adults
Secukinumab responses vary across the spectrum of congenital ichthyosis in adults Open
View article: Development and Initial Validation of a Novel System to Assess Ichthyosis Severity
Development and Initial Validation of a Novel System to Assess Ichthyosis Severity Open
The results of this qualitative study demonstrate reproducibility and suggest that the ISS is a reliable system to measure global ichthyosis severity in adults and children.
View article: The Genomic and Phenotypic Landscape of Ichthyosis
The Genomic and Phenotypic Landscape of Ichthyosis Open
This cohort study expands the genotypic and phenotypic spectrum of ichthyosis, establishing associations between clinical manifestations and genotypes. Collectively, the findings may help improve clinical assessment, assist with developing…
View article: Cutaneous mosaicism: Special considerations for women
Cutaneous mosaicism: Special considerations for women Open
Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is…
View article: Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation Open
View article: Executive summary: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Executive summary: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents Open
View article: <i>CARD14</i>‐associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature
<i>CARD14</i>‐associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature Open
CARD14 ‐associated papulosquamous eruption (CAPE) is a proposed term that encompasses features ranging from psoriasis to pityriasis rubra pilaris (PRP) in association with CARD14 mutations. The early onset of the disease, prominent facial …
View article: 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation
186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation Open
View article: Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation Open
The term "cavernous hemangioma" has been used to describe vascular anomalies with histology featuring dilated vascular spaces, vessel walls consisting mainly of fibrous stromal bands lined by a layer of flattened endothelial cells, and an …
View article: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents Open
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical con…
View article: Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis Open