Ferran Olmos‐Alpiste

Parc de Salut

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Ramón M. Pujol

Hospital Del Mar

Alejandro Lobato‐Berezo

Parc de Salut

Elena Muiño

Hospital de Sant Pau

Daniel López-Castillo

Hospital de Sant Joan Despí Moisès Broggi

Eva Espejo

Parc de Salut

Olga Maisterra

Universitat Autònoma de Barcelona

Cristina Gallego-Fábrega

Hospital de Sant Pau

Ana M. Giménez‐Arnau

Pompeu Fabra University

Juan García Gavín

Complejo Hospitalario de Pontevedra

Gemma Romeral

Hospital Del Mar

Cooperative Institutions

Universitat Autònoma de Barcelona

Parc de Salut

Hospital Del Mar

Hospital del Mar Research Institute

Pompeu Fabra University

Municipal Institute for Medical Research

Hospital de Sant Pau

Biomedical Research Institute

Institut de Recerca Sant Pau

Mútua Terrassa

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Post‐irradiation Renbok phenomenon in erythema multiforme: Report of a case sparing previously irradiated areas

Journal of the European Academy of Dermatology and Venereology (2022)

Marta Bertolín‐Colilla Ferran Olmos‐Alpiste Núria Rodríguez Ramón M. Pujol

Erythema multiforme

Erythema

10.1111/jdv.18532

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Citations (0)

Polymorphic and multimetameric herpes zoster

Medicina Clínica (2020)

Alejandro Lobato‐Berezo Ferran Olmos‐Alpiste Ramón M. Pujol

10.1016/j.medcli.2020.05.046

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Diffuse dermal mucinosis secondary to colony‐stimulating factor 1 receptor monoclonal antibody treatment: A novel and peculiar drug‐induced diffuse cutaneous mucinosis

The Journal of Dermatology (2020)

Ferran Olmos‐Alpiste Sònia Segura Alejandra Tomás‐Velázquez Leyre Aguado Agustı́n España

Abstract Colony‐stimulating factor 1 receptor (CSF1R) inhibitors represent a new class of immune‐modulatory drugs, mostly investigated in clinical trials in different malignant neoplasms. Four patients, diagnosed with recurrent or advanced malignant neoplasm and treated with a combination of anti‐programmed death ligand 1 and anti‐CSF1R monoclonal antibodies, developed an asymptomatic cutaneous eruption characterized by an ill‐defined pseudoedematous to waxy diffuse infiltration with a reticular cobblestone‐like pattern. Histopathological examination revealed diffuse mucin deposition involving the superficial and mid‐dermis with fragmented and scattered elastic fibers. The exact pathogenic mechanisms implicated in the development of mucin deposits in patients treated with CSF1R inhibitors remain to be elucidated. A reduced degradation and clearance of components of the extracellular matrix by macrophages secondary to CSF1 pathway inhibition may be hypothesized. Shredding and fragmentation of elastic fibers may be a result of the increased accumulation of mucopolysaccharides. This observation illustrates the new spectrum of skin‐related toxicities secondary to new targeting therapies. This may contribute to a better understanding of the underlying pathogenic mechanisms in skin diseases characterized by a persistent dermal glycosaminoglycan deposition.

Infiltration (HVAC)

10.1111/1346-8138.15662

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Citations (3)

Experiencia con rituximab en el tratamiento de las enfermedades ampollares autoinmunes

Piel (2019)

Ferran Olmos‐Alpiste Laia Curto‐Barredo Ramón M. Pujol

10.1016/j.piel.2019.04.005

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Citations (1)

Polymorphic and multimetameric herpes zoster

Medicina Clínica (English Edition) (2021)

Alejandro Lobato‐Berezo Ferran Olmos‐Alpiste Ramón M. Pujol

10.1016/j.medcle.2020.05.040

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Genome-wide Transcriptome Study in Skin Biopsies Reveals an Association of E2F4 With Cadasil and Cognitive Impairment

Research Square (Research Square) (2020)

Elena Muiño Olga Maisterra Joan Jiménez-Baladó Natàlia Cullell Caty Carrera

Abstract Background: CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the receptor, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, as executive function is characteristically impaired. The molecular pathways altered by this receptor aggregation need to be studied further. Methods: Agenome-wide transcriptome study(four casespaired with three healthysiblings)was carried out,in addition toa qRT-PCR for validation purposes(ten new cases and eight new controls).Neuropsychological tests were performedto evaluateverbal memory, attention and information processing speed (IPS), motor speed and dexterity, executive function and visuoconstructional skills. The Single-nuclei Brain RNA-seq expression browser (SNBREB) and the GTExPortalwere used to study brain expressionof the significant mRNAs found. Results: The two most significant differentially expressed mRNAs ( BANP, p-value=7.23x10 -4 and PDCD6IP, p-value=8.36x10 -4 ) were selected for the validation study by qRT-PCR. Additionally, we selectedtwo more mRNAs( CAMK2G, p-value=4.52x10 -3 and E2F4, p-value=4.77x10 -3 ) due to their association with ischemic neuronal death. E2F4 showed differential expression in the genome-wide transcriptome study and in the qRT-PCR (p=1.23x10 -3 ), and it was upregulated in CADASIL cases. Furthermore, higher E2F4 expressionwas associated with worseexecutive function (p=2.04x10 -2 ) and attention and IPS (p=8.73x10 -2 ). In silico studies indicated that E2F4 is expressed in brain endothelial cells. Conclusions: Skin biopsies of CADASIL patients presented higher mRNA levels of E2F4 and these higher levels have a significant correlation with worseexecutive function and IPS.

CADASIL

10.21203/rs.3.rs-32722/v1

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Unilateral ulcerations on the forehead and scalp

Clinical and Experimental Dermatology (2022)

Sara Tormo‐Mainar David Pesqué Ferran Olmos‐Alpiste Gustavo Deza Álvaro March‐Rodríguez

We describe a patient with unilateral ulcerations on the forehead and scalp, occurring 3 months after herpes zoster infection. Further investigations were unremarkable. Histology showed epidermal and upper dermal ulceration associated with a mild nonspecific dermal inflammatory infiltrate composed of lymphoid cells and histiocytes.

Histology

10.1111/ced.15154

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Chronic Hand Eczema, learning from clinical characterization, aetiology, concomitant foot eczema and polysensitization

Daniel López-Castillo M.Á. Descalzo Ferran Olmos‐Alpiste José Carlos Armario Hita Virginia Fernández‐Redondo

Etiology

Hand eczema

10.17632/pwfhb42jgc.1

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Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment

Scientific Reports (2021)

Elena Muiño Olga Maisterra Joan Jiménez-Baladó Natàlia Cullell Caty Carrera

CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function characteristically impaired. The molecular pathways altered by this receptor aggregation need to be studied further. A genome-wide transcriptome study (four cases paired with three healthy siblings) was carried out, in addition to a qRT-PCR for validation purposes (ten new cases and eight new controls). To study the expression profile by cell type of the significant mRNAs found, we performed an in situ hybridization (ISH) (nine cases and eight controls) and a research in the Single-nuclei Brain RNA-seq expression browser (SNBREB). Pathway analysis enrichment was carried out with Gene Ontology and Reactome. Neuropsychological tests were performed in five of the qRT-PCR cases. The two most significant differentially expressed mRNAs (BANP, p-value = 7.23 × 10-4 and PDCD6IP, p-value = 8.36 × 10-4) were selected for the validation study by qRT-PCR. Additionally, we selected two more mRNAs (CAMK2G, p-value = 4.52 × 10-3 and E2F4, p-value = 4.77 × 10-3) due to their association with ischemic neuronal death. E2F4 showed differential expression in the genome-wide transcriptome study and in the qRT-PCR (p = 1.23 × 10-3), and it was upregulated in CADASIL cases. Furthermore, higher E2F4 expression was associated with worse executive function (p = 2.04 × 10-2) and attention and information processing speed (IPS) (p = 8.73 × 10-2). In situ hibridization showed E2F4 expression in endothelial and vascular smooth vessel cells. In silico studies indicated that E2F4 is also expressed in brain endothelial cells. Among the most significant pathways analyzed, there was an enrichment of vascular development, cell adhesion and vesicular machinery terms and autophagy process. E2F4 is more highly expressed in the skin biopsy of CADASIL patients compared to controls, and its expression is present in endothelial cells and VSMCs. Further studies are needed to understand whether E2F4 could be useful as a biomarker, to monitor the disease or be used as a therapeutic target.

CADASIL

Genome-wide Association Study

Association (psychology)

Genetic Association

10.1038/s41598-021-86349-1

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Citations (7)

Acquired palmoplantar keratoderma associated with primary biliary cholangitis: Complete and persistent resolution after ursodeoxycholic acid treatment

Australasian Journal of Dermatology (2021)

Álvaro March‐Rodríguez Orianna Marcantonio Ferran Olmos‐Alpiste Ramón M. Pujol

Abstract A 57‐year‐old woman presenting an acquired and persisting palmoplantar keratoderma associated with primary biliary cholangitis is reported. Treatment with oral ursodeoxycholic acid was prescribed, and a complete and persistent resolution of skin lesions was noted. This observation seems to support that acquired palmoplantar keratoderma is an uncommon cutaneous manifestation of primary biliary cholangitis.

Ursodeoxycholic acid

Palmoplantar keratoderma

Keratoderma

10.1111/ajd.13765

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