Julio Salas-Alanis

Dystrophic epidermolysis Research Associtation Mexico. · Dermatology

Background: Hair loss is the most frequent dermatology consultation, defined as a temporary or permanent loss of hair. Frontal fibrosing alopecia is a condition that has become increasingly prevalent in recent years. Methods: We performed a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2...

The COSEB initiative aims for standardized and uniform measurement by developing core outcome sets for epidermolysis bullosa. This report describes the COSEB workshop organized in December 2023, which led to a broad stakeholder consensus-based roadmap. Moreover, it highlights novel features of COSEB, including the pro-active engagement of stakehold...

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracell...

Lack of type VII collagen (C7) disrupts cellular proteostasis yet the mechanism remains undescribed. By studying the relationship between C7 and the extracellular matrix (ECM)-associated proteins thrombospondin-1 (TSP1), type XII collagen (C12) and tissue transglutaminase (TGM2) in primary human dermal fibroblasts from multiple donors with or witho...

Introduction: Hematohidrosis and hemolacria are 2 conditions surrounded in religiousness, mysticism, and supernatural superstitions. While the mechanism is still unclear, these cases have amazed physicians for centuries. Methods: We performed a systematic review in PubMed from 2000 to mid-2021 accounting for 75 studies from which we included 60...

Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status of adaptive T cell‐mediated immunity in RDEB wounds. Using a non‐invasive approach for sampling of wound‐associa...

Introduction Basal cell carcinoma (BCC) is the most common human malignancy commonly in white people, but in less than 1% of cases it may appear on unexposed areas, like the perineal and anal regions. Vulvar BCC is often diagnosed late because it grows slowly and tends to be asymptomatic, with no specific physical findings. Here, we present a rare...

Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is based on anecdotal care, clinical expertise and creative problem solving with caregivers and individuals with EB. Evidence based intervention is...

El propósito de este trabajo es analizar las ventajas y desventajas de la telemedicina durante la pandemia. Se realizó una revisión sistemática en Web of Science con las palabras clave “COVID-19 and Dermatology and Telemedicine” y “Telemedicine and Dermatology and Pandemic”, arrojando 11 artículos, de los cuales nueve fueron analizados para esta re...

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB pat...

Scar formation is a consequence of wound healing that developed from damaged tissue either from physical injury or surgical incision. A hypertrophic scar develops due to an abnormal healing response to trauma. It might lead to serious functional and cosmetic disability. There are numerous methods mentioned in the literature to treat such scars but...

Background Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencin...

Background Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. Methods Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked abo...

En diciembre de 2019 dio inicio la mayor pandemia a la que nos hemos enfrentado en los últimos años. Al último día de agosto de 2020 se habían reportado más de 25 millones de casos con más de 800,000 muertes en todo el mundo causadas por la enfermedad denominada COVID-19. Las manifestaciones de la enfermedad incluyen fiebre, tos seca, cefalea y ano...

Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms a...

Background Coronavirus Disease 2019 (COVID‐19) is a viral illness caused by the novel coronavirus SARS‐CoV‐2 which spreads via droplets from an infected person. There has been an unprecedented rise in the use of personal protective equipment and practice of personal hygiene measures against COVID‐19. The extended use of protective measures (PM) can...

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Coronavirus disease (COVID‐19) is rapidly spread across the world. Many clinical manifestations of the virus are described, and new symptoms are emerging, only few cases of patients with skin manifestation were described since the pandemic was announced by the WHO on March. Common clinical features of COVID‐19 reported include fever, cough, myalgia...

Background Poorly healing wounds are one of the major complications in patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). At present, there are no effective means to analyze changes in cellular and molecular networks occurring during RDEB wound progression to predict wound outcome and design betted wound management approache...

Background Recessive dystrophic epidermolysis bullosa (RDEB) is associated with a high mortality rate due to the development of life threatening, metastatic cutaneous squamous cell carcinoma (cSCC). Elevated transforming growth factor β (TGFβ) signalling is implicated in cSCC development and progression in RDEB patients. Objective To determine the...

Background: Esophageal strictures are the common gastrointestinal complications in patients with epidermolysis bullosa (EB) requiring dilation. There is limited information on the best type of intervention, outcomes, and predictors for re-stenosis. Objectives: We aimed to investigate the frequency, clinical presentation of esophageal strictures...

The 2019 novel coronavirus' (COVID-19) pandemic became apparent in China during the International Congress on Epidermolysis Bullosa, (EB) in London, in January 2020. Many EB patients have medical problems that make them a vulnerable population of patients. Herein, we developed an international consensus to suggest best management of EB patients dur...

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Significance This study demonstrates a therapeutic option using induced pluripotent stem cells (iPSCs), gene editing, and tissue engineering techniques for the development of a long-lasting treatment that will result in the permanent closure of nonhealing wounds in dystrophic epidermolysis bullosa (DEB), especially for recessive DEB (RDEB). Here, w...

Regenerative responses predispose tissues to tumor formation by largely unknown mechanisms. High-mobility group box 1 (HMGB1) is a danger-associated molecular pattern contributing to inflammatory pathologies. We show that HMGB1 derived from keratinocytes, but not myeloid cells, delays cutaneous wound healing and drives tumor formation. In wounds of...

Mutations in the gene encoding collagen VII cause the devastating blistering disease recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by severe skin fragility and nonhealing wounds aggravated by scarring and fibrosis. We previously showed that TSP1 is increased in RDEB fibroblasts. Because transforming growth factor-β (TGF-β...

Purpose: Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients suffer this fatal complication, therapies for treatment of RDEB SCC are in urgent need. Experiment...

Background Mycetoma is a chronic, localized infection caused by fungi and bacteria. It usually affects the skin, subcutaneous tissue, and bone of exposed areas with deformity of the affected limb, ulcers, and fistula; however, pain is not severe, therefore the patient comes late to hospital for care. Objective To establish the diagnosis of mycetom...

Activation of the Hedgehog (Hh) pathway is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCC), with loss of function of Patched1 (Ptc1) being the most common genomic lesion. Sporadic BCCs also overexpress desmoglein-2 (Dsg2), a desmosomal cadherin normally found in the basal layer. Using a mouse model of Gor...

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin and mucous membrane fragility disorder complicated by early-onset, highly malignant cutaneous squamous cell carcinomas (SCCs). The molecular etiology of RDEB SCC, which arises at sites of sustained tissue damage, is unknown. We performed detailed molecular analysis using who...

Background: Dystrophic epidermolysis bullosa (DEB) is a devastating mucocutaneous inherited disorder that can have a remarkable impact on the oral cavity. Objective: To understand the relationships between oral health-related quality of life and general quality of life in DEB patients versus a control group. Methods: Twenty-eight DEB patients and 2...

Proteasome inhibitors have distinct properties and the biochemical consequences of suppressing ubiquitin E1 enzymes and the proteasome differ. We compared the effects of the proteasome inhibitors bortezomib, ixazomib and carfilzomib and the ubiquitin E1 enzyme inhibitor MLN7243/TAK-243 on cell viability and cell death in normal keratinocytes and cu...

Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 differen...

A 75-year-old African-American man presented with a 3-year history of painless, fluid-filled blisters, for which his primary care physician had treated him with doxycycline, cephalexin, and topical corticosteroids, with no significant improvement. The blisters had ruptured spontaneously and healed with scarring. He denied antecedent trauma. His med...

Objective We investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression. Methods We collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety...

Background Sleep disturbances in patients with dystrophic epidermolysis bullosa (DEB) have never been investigated and still remain an open question. We sought to examine sleep quality and its relationship with pain and mood disorders in DEB patients. Methods Twenty-eight DEB patients and 26 healthy individuals completed the following battery of s...

Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of chronic non-healing wounds. Although clinical studies have shown that cell-based therapies improve wound healing, recruitment of therapeutic cells to blistering skin and to more advanced skin lesions remains a challenge. Here, we analyzed cytokines and c...

Objectives: This study aims to describe salivary beta-2 microglobulin (sB2M) levels in our setting and to assess the performance of sB2M for the diagnosis of Sjögren's syndrome (SS). Patients and methods: This cross-sectional, comparative study included 192 SS patients (2 males, 190 females; mean age 53.1 years; range 23 to 84 years) and 64 heal...

El VIH-sida es un problema de salud pública en el mundo. En 2014 se notificaron 9.888 casos nuevos en México y se estima que la mitad de los pacientes desconocen ser portadores de la enfermedad. El sarcoma de Kaposi asociado a sida (SK-sida) es un marcador de progresión de la enfermedad y de inmunosupresión. Aunque la incidencia de SK-sida en la ca...

Background: Dystrophic epidermolysis bullosa (DEB) is a devastating mucocutaneous inherited disorder that can have a remarkable impact on the oral cavity. Objective: To understand the relationships between oral health-related quality of life and general quality of life in DEB patients versus a control group. Results: All 7 dimensions in OHIP-49 dem...

Paciente masculino de 80 años, agricultor, procedente del estado de Hidalgo, México, con antecedentes de hipertensión arterial y alérgico al metamizol. Refiere cuadro clínico de 20 años de evolución con placa hiperqueratósica en el dorso y tobillo del pie derecho, causada por un traumatismo con una piedra. El paciente presentó ardor y prurito duran...

Objective: The purpose of this study was to assess esophageal damage in patients with recessive dystrophic epidermolysis bullosa (RDEB) with or without dysphagia. Subjects and methods: Fourteen patients with either severe generalized or another generalized form of RDEB recruited through a research and support foundation were evaluated for obstru...

GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressiveoptic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene alterations in the ANTXR1 gene have been reported to be causative of this disorder, and an autosomal recessive pattern has been observe...

Graft-versus-host disease (GVHD) is a major complication of allogeneic hematopoietic stem cell transplants (allo-HSCT) associated with significant morbidity and mortality. The earliest and most common manifestation is cutaneous graft-versus-host disease. This review focuses on the pathophysiology, clinical features, prevention and treatment of cuta...

Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagno...

Background: B-Raf is a serine/threonine protein kinase activating the MAP kinase/ERK-signaling pathway. It has been shown that 50% of melanomas harbor activating BRAF mutations, with over 90% being the V600E mutation. Objective: The goal of this research was to determine the prevalence of the BRAF V600E mutation in patients from Central Mexico d...

Psoriasis is a complex genetic disease, which has previously been associated with numerous single nucleotide polymorphisms (SNPs) that are implicated in various processes, including skin barrier functions and in the regulation of inflammatory and immune responses. The present study aimed to investigate the genotypic and allelic frequencies of 32 SN...

Sjögren’s syndrome is a chronic autoimmune disease whose main clinical manifestation is oral dryness (xerostomia) and ocular dryness (xerophthalmia). It is characterized by progressive mononuclear infiltration of the exocrine glands and can affect a variety of organ systems. The prevalence of primary Sjögren’s syndrome varies from 0.01 up to 4.8%;...

Sjögren’s syndrome is a chronic autoimmune disease whose main clinical manifestation is oral dryness (xerostomia) and ocular dryness (xerophthalmia). It is characterized by progressive mononuclear infiltration of the exocrine glands and can affect a variety of organ systems. The prevalence of primary Sjögren’s syndrome varies from 0.01 up to 4.8[%]...