A5076355689- Skin and Cellular Biology Research
- Connective tissue disorders research
- Cellular Mechanics and Interactions
- RNA regulation and disease
- Autoimmune Bullous Skin Diseases
- Cutaneous lymphoproliferative disorders research
- Hair Growth and Disorders
- Hedgehog Signaling Pathway Studies
- Genetic and rare skin diseases.
- Mast cells and histamine
- CNS Lymphoma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Child Nutrition and Feeding Issues
- Hematopoietic Stem Cell Transplantation
- Neurogenetic and Muscular Disorders Research
- Nuclear Structure and Function
- Tissue Engineering and Regenerative Medicine
- Hematological disorders and diagnostics
- Melanoma and MAPK Pathways
- Cardiovascular Syncope and Autonomic Disorders
- Cell Adhesion Molecules Research
- Cutaneous Melanoma Detection and Management
- Skin Diseases and Diabetes
- Celiac Disease Research and Management
- Neonatal skin health care
University College London
2022-2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2022-2024
Great Ormond Street Hospital
2022-2024
Hospital Infantil Universitario Niño Jesús
2021-2022
The hallmark of epidermolysis bullosa (EB) is fragile attachment epithelia due to genetic variants in cell adhesion genes. We describe 16 EB patients treated the ear, nose, and throat department a tertiary pediatric hospital linked United Kingdom's national unit between 1992 2023. Patients suffered high degree morbidity mortality from laryngotracheal stenosis. Variants laminin subunit alpha-3 (LAMA3) were found 10/15 where genotype was available. LAMA3 encodes laminin-332 heterotrimeric...
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification associated postnatal neurological deterioration, led us study calcium metabolism cohort 42 children. In this study, we find that 74% patients had at least one abnormal measurement metabolism, the...
Among children with multiple congenital melanocytic nevi, 25% have no established genetic cause, of whom many develop a hyperproliferative and severely pruritic phenotype resistant to treatment. Gene fusions been reported in individual cases nevi. We studied 169 patients nevi this study, 38 were double wild type for pathogenic NRAS/BRAF variants. Nineteen these had sufficient tissue undergo RNA sequencing, which revealed mosaic BRAF 11 19 RAF1 1 19. Recurrently, involved the loss 5´...
Abstract Background Desmosomes are complex cell junction structures that connect intermediate filaments providing strong cell-to-cell adhesion in tissues exposed to mechanical stress. Objectives To identify causal variants individuals with woolly hair and skin fragility of unknown genetic cause. Methods This research was conducted using whole-genome sequencing, whole-exome clinical phenotyping, haplotype analysis, single-cell RNA sequencing data immunofluorescence microscopy transmission...
Abstract Background Dystrophic epidermolysis bullosa (DEB) is a subtype of an inherited skin disorder characterized by and mucosal fragility due to collagen VII ( COL7A1 ) gene mutations. Esophageal strictures leading chronic dysphagia acute episodes are well recognized complications within this subtype. Sloughing esophageal mucosa the treatment emergency have heretofore received limited attention in EB literature. Methods We retrospectively reviewed electronic medical records patients who...
Abstract Neonatal compartment syndrome (NCS) is extremely rare, with less than 100 cases reported. The affected limb usually presents significant swelling and sentinel skin changes such as desquamation, blisters necrosis. Risk factors that predispose infants to a hypercoagulable state or trauma have been implicated, but the exact cause remains elusive. We report two neonates no family history of note, except for oligohydramnios in patient 1, who presented congenital bullae over upper...
Abstract TUFT1 encodes tuftelin-1, a glycoprotein thought to play major role in mineralization and structural organization of enamel, but it has not been implicated any monogenic enamel disorders. Recently, Jackson et al. (2023) identified that tuftelin-1 desmosomal function. Pathology components causes disorders affecting the skin, hair, heart. Newly described bi-allelic loss-of-function variants (OMIM600087) cause novel skin fragility-woolly hair phenotype. We present two siblings from...
Abstract Erythrokeratodermia variabilis et progressiva (EKVP) is a clinically heterogeneous group of inherited disorders characterized by the coexistence localized or generalized hyperkeratotic plaques and transient, stationary migratory erythematous patches. EKPV most often transmitted in an autosomal dominant manner. Causal pathogenic variants have been detected GJB3, GJB4, GJA1 KDSR KRT83 genes encoding connexins 31, 30.3, 43, 3-ketodihydrosphingosine reductase keratin 83, respectively....
Journal Article Accepted manuscript Early use of nasogastric tubes may lead to serious oesophageal complications in patients with severe epidermolysis bullosa Get access Maria L Bageta, Bageta Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK Correspondence: L. Email: maria.bageta@gosh.nhs.uk Search for other works by this author on: Oxford Academic Google Scholar Natalie Yerlett, Yerlett Dietetics Children https://orcid.org/0000-0001-6058-0682 Anna Rybak,...
Abstract We present a case series of four preterm neonates from two tertiary centres in the UK. All presented at birth with 90% epidermal skin loss. In all neonates, there was strikingly similar presentation, spared on palms, soles, and areas either face or scalp. Three tested positive for herpes simplex virus (HSV) type 1 one HSV 2 swabs taken soon after birth. None mothers gave history genital infection. past, this pattern loss has been attributed to severe congenital erosive vesicular...
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is one of the most severe forms caused by loss-of-function mutations in type VII collagen gene (COL7A1) leading to extensive skin and mucosal fragility systemic complications. No active treatment currently available. This study assesses whether repeated infusions allogeneic umbilical cord-derived mesenchymal stromal cells are safe can benefit children with RDEB. a double-blinded, randomized (1 : 1), placebo-controlled crossover trial...
Abstract Background Children and adolescents with severe recessive dystrophic epidermolysis bullosa (RDEB-S) often have constipation in addition to gastrointestinal dysbiosis, due frequent antibiotic use reduced oral diet. Constipation is treated long-term of high daily doses macrogol gel (Movicol Paediatric PlainTM or LaxidoTM). refractory increases fibre fluids, impacts severely on quality life. Aim To study the initial impact efficacy using a multistrain probiotic supplement for 12 weeks...
Abstract Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns hypermobility. Objectives To define the pattern identify possible causes in patients EB. Methods Retrospective review EB database to children at least one physiotherapy assessment between 2009 2022. Results Forty‐eight out 59 referrals were identified (81.3%); 23 (48%) had recessive dystrophic (RDEB), 17...
Abstract Mastocytosis is a rare and clinically heterogeneous disease characterized by abnormal accumulation of mast cells in various tissues. There are three major types cutaneous mastocytosis (CM): diffuse (DCM), urticaria pigmentosa solitary mastocytoma, which the most common form before age 3 months: 90% CM cases present 2 years age, congenital has been described 23% those. Solitary mastocytoma associated with mutation KIT gene. A male infant was born at 39 weeks, large, indurated,...
Abstract Becker naevus and syndrome are mosaic disorders caused in 60% of cases by postzygotic variants the gene ACTB which encodes β-actin. We observed several patients with coexistent neurocognitive abnormalities began to study this potential association. All 51 seen last 5 years a differential diagnosis electronic and/or photographic records were identified retrospectively. Clinical notes, photographs, radiology histopathology reviewed. Twenty-one removed due different or doubtful final...
Abstract Leukaemia is the most frequent malignancy of childhood, accounting for approximately 30% all malignancies. Acute leukaemia may present in a variety extramedullary manifestations, commonest being cutis (LC). LC infiltration epidermis, dermis or subcutis by neoplastic leukocytes with skin lesions preceding development peripheral blood bone marrow just 2–3% cases. A 6-month-old baby girl was reviewed due to multiple which appeared on her left forearm 2 months previously, and spread...
Abstract Dystrophic epidermolysis bullosa (DEB) is a subtype of inherited skin disorders characterized by and mucosal fragility due to collagen VII (COL7A1) gene mutations. Desloughing the lining oesophagus has not been reported before. We retrospectively reviewed hospital electronic patient records between 2008 2021 with regard acute treatment long-term management. Six patients recessive DEB (RDEB) severe (n = 4), RDEB intermediate 1) dominant (DDEB) were identified. The mean age at time...
Abstract Pigmented purpuric dermatoses (PPDs) are a group of idiopathic, chronic, and self‐resolving conditions easily recognizable in adults but extremely uncommon infants. We present the youngest patient with PPD reported to date.