Grants collaborating with:

Dystrophic Epidermolysis Bullosa Research Association (in association with the Sohana Fund and Goldman Sachs Gives)

(Co-awardees JE Mellerio, G Petrof, A Abdul-Wahab, J-J Boelens JA McGrath)“Clinical trial of allogeneic mesenchymal stromal cells in children with recessive dystrophic epidermolysis bullosa”  £388,171 May 2012-April 2015

Quality Improvement Development Innovation Scheme (QIDIS) For service improvements (August 2010) £85,000

Quality Improvement Development Innovation Scheme (QIDIS) Improving dental care services for patients with EB (June 2012)

Natural History and Clinical Endpoints Study in Epidermolysis Bullosa The development of novel therapies for different forms of epidermolysis bullosa (EB) necessitates reliable, quantifiable outcome measures that will be recognised and accepted by regulators.

£100,000

Co-design of hand therapy devices for Epidermolysis Bullosa (JUNE 2013)To develop and integrate the hand deformity charting and hand therapy outcomes systems. £40,000

NIHR Rare Disease Translational Research Collaboration - Development of a United Kingdom rare disease research database for autosomal recessive congenital ichthyosis (ARCI) Co Investigator Dr Anna Martinez, Consultant Dermatologist at Great Ormond Street Hospital 2017 

Scioderm This is a Phase III, multi-center, randomized, double-blind, vehicle controlled, study to assess the effectiveness and safety of SD-101 cream vs. vehicle on lesions in subjects with Simplex, Recessive Dystrophic, or Junctional non-Herlitz Epidermolysis Bullosa. Chief  Investigator March 2015-17 £150,00

Scioderm extension study SD 006 August 2015 Open labelled study for 12 month 2017

Ex vivo gene therapy for Netherton syndrome (NS) Phase I clinical trial of ex vivo gene therapy for Netherton syndrome (NS), a severe and life-threatening inherited skin disease. This study of 3-6 NS patients (adults and children) involves lentiviral gene correction of autologous keratinocyte stem cells which are cultured into an epidermal sheet before grafting back onto patient skin. (Funding: The Moulton Charitable Foundation £495,168). 2017

A retrospective analysis of retinal and medical outcomes in Incontinentia Pigmenti 2018

Double blind, randomised, vehicle controlled, Phase III efficacy and safety studywith 24 month open label follow up of Oleogel-S10 in patients with inherited Epidermolysis Bullosa. Four patients recruited for enrolment. 2018

An randomised, double- blind, parallel group phase 2 study evaluating the safety and efficacy of Diacerein 1% ointment topical formulationin subject with Epidermolysis Bullosa Simplex with a 12 month open-label study subsequently. 2018

 

Representation on Local and National Bodies

Executive Committee of the British Society of Paediatric Dermatology 2005-2009.  

Lead for the National Specialist Commissioning Team (NSCT) funded EB service at GOSH

Peer-reviewer for journals including: British Journal of Dermatology, Journal of the American Academy of

           Dermatology, Journal of Pediatric Dermatology

RCPCH National Guidelines Working Group for food allergy 2009 -11

External Advisory Panel cell therapy trials Netherlands 2012-date 

International Consensus Committee Classification EB 2013 on going

Medical Advisor Board Ichthyosis Support Group

Scientific Advisory Board of DEBRA America

European Reference Network Chair Eb and Ichthyosis 2018

 

College and Society Membership

Fellow of The Royal College of Paediatrics & Child Health

British Society of Paediatric Dermatology

National Training Committee for Paediatric Dermatology

Associate member British Association of Dermatology

European Society Of Paedaitric Dermatology

 

Peer reviewed publications

Lipoatrophic panniculitis case reports and review of the classification. Martinez A, Malone M, Harper JI Ann Derm venereol 1998; 125:27 

High dose systemic corticosteroids can arrest recurrences of severe mucocutaneous erythema multiforme. Martinez A and Atherton D. Pediatr Dermatol 2000; 17:87-90

Lipoatrophic panniculitis and chromosome 10 abnormality Martinez A, Malone M, Hoeger P, Harper J. y. Br J Dermatol 2000; 142:1034-1038

Spontaneous remission of congenital leukemia: a case for conservative treatment. Martinez A, Grundy RG, Kempski H, Malone M, Atherton DSJ Pediatr Hematol Oncol 2000 May-Jun; 22(3): 252-5

PTEN mutations are uncommon in Proteus syndrome. Martinez A, Barker K, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J. J Med Genet 2001 Jul; 38(7): 480-1

Vascular anomalies in Proteus Syndrome. Hoeger P, Martinez A and Harper. Clinical and Exp dermatol 2004; 29:222-230 

Bone mineralization in children with epidermolysis bullosa. Fewtrel MS, Allgrove JA, Brain, Mellerio JE, Martinez AE. BJD 2006; 154:959-962

Histopathological features of gastrointestinal mucosal biopsies in children with epidermolysis bullosa.  Shah N, Freeman E, Martinez AE, Mellerio JE, Smith VV, Lindley KJ, Sebire NJ. J Clin Pathol 2007; 60: 843-4.

The management of general and disease specific ENT problems in children with epidermolysis bullosa – A retrospective case note review.  Hore I, Bajaj Y, Denyer J, Martinez AE, Mellerio JE, Bibas T, Albert D. Int J Pediatr Otorhinolaryngol 2006; 2007; 71: 385-91.

A case of autosomal recessive bullous congenital ichthyosiform erythroderma-NK Webber, NJ Levell, A T-Kwiatkowski, D Baty, PJC Dopping-Hepensal, JAMcGrath, AE Martinez, JE Mellerio 2009

Gastrointestinal complications of epidermolysis bullosa in children.  Freeman E, Köglmeier J, Martinez AE, Mellerio JE, Haynes L, Sebire NJ, Lindley KJ, Shah N.  Br J Dermatol 2008; 158: 1308-14.  

Epidermolysis bullosa simplex with mottled pigmentation: clinical and molecular confirmation in 5 subjects.  Wong T, Terron-Kwiatkowski A, Wojnarowska FT, Baty DU, McLean WHI, McGrath JA, Martinez AE, Mellerio JE.  Br J Dermatol 2008; 159 (S1): 27.

The psychological adjustment of children with epidermolysis bullosa (EB) and the differential effects of the disease and psychosocial variables.  Soon K, Mason R, Price F, Martinez A, Mellerio JE. Br J Dermatol 2008; 159 (S1): 115-6.

Maxillary alveolar process fracture complicating intubation in a patient with epidermolysis bullosa. George M, Martinez AE, Mellerio JE, Nandi R. Paediatr Anaesth 2009; 19: 706-7.

Initial data from the UK epidermolysis bullosa database. Moss C, Todhunter A, Wong A, Heagerty AHM, Martinez A, Ramesh R, Mellerio J. Br J Dermatol 2009; 161 (S1): 4.

 Dilated Cardiomyopathy in Epidermolysis Bullosa: a retrospective, multicentre study Lara-Corrales I, Mellerio JE, Martinez AE et al Paediatr Dermatol. 2010 May; 27 (3): 238-43

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific Arginine and glycine substitutions in type VII collagen. Van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PC, van Essen AJ, Scheffer H, Hofstra RMW, McGrath JA, Jonkman MF. J Med Genet 2011; 48: 160-7.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.  Almaani N,Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinez AE,Mellerio JE, McGrath JA.  Acta Derm Venereol 2011; 91: 262-6.

The challenges of meeting nutritional requirements in children and adults with epidermolysis bullosa: proceedings of a multidisciplinary team study day. Hubbard L, Haynes L, Sklar M, Martinez AE, Mellerio JE. Clin Exp Dermatol 2011; 36: 579-83.

Growth impaired children with Epidermolysis bullosa have increased serum markers of inflammation and reduced circulating IGF-1/IGFBP-3  Roa A, Mellerio JE, Sklar M and  Martinez AE Pediatric Research 2011;70:294-294

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned.  Maritsi D,Martinez AE, Mellerio JE, Eleftheriou D, Pilkington CA. Ped Rheumatol 2011; 9: 13

The RCPCH care pathway for food allergy in children: An evidence and consensus based national approachFox, A.T., Lloyd, K., Arkwright, P.D., Bhattacharya, D., Brown, T., Chetcuti, P., East, M., Gaventa, J., King, R., Martinez, A., Meyer, R., Parikh, A., Perkin, M., Shah, N., Tuthill, D., Walsh, J., Waddell, L., Warner, J.Archives of Disease in Childhoodvolume 96, issue 2, year 2011, pp. i25 - i29

Gastrostomy tube feeding in children with epidermolysis bullosa: consideration of key issues.  Haynes L, Mellerio JE, Martinez AE. Ped Dematol 2012 [Epub ahead of print].

 A consensus approach to wound care in epidermolysis bullosa. Pope E, Lara-Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R, Goodman L, Coutts P, Wagner J, Allen U, Sibbald G. J Am Acad Dermatol 2012 [Epub ahead of print].                                                                                                                              

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned.  Maritsi D,Martinez AE, Mellerio JE, Eleftheriou D, Pilkington CA. Ped Rheumatol 2011; 9: 13].                                                                                                                              

Germline mutation in EXPH5 implicates the Rab27B effector protein slac2-b in inherited skin fragility. McGrath JA, Stone KL, Begum R, Simpson MA Dopping-Hepenstal PJ, McMillan JR, South AP,McLean WH, Martinez AE, Mellerio JE, Parsons M. Am J Hum Genet 2012;91;1115-21

Epidermolysis Bullosa  and chronic wounds: a model for wound bed preparation of fragile skin.

Pope E, Lara-Corrales I, Mellerio JE, Martinez AE, Sibbald C, Sibbald RD. Advance skin Wound Care 2013; 26; 177-8

A novel missense mutation in keratin 1 underlying clinically mild epidermolytic ichthyosis mimicking epidermolysis bullosa simplex superficialis. Mckenzie AI, Dopping-Hepensfal, PI, Ozeoema L, Liu l, Stone K, Simpson MA, McGrath JA, Martinez AE, Mellerio JE, Arch Dis Child 2013;98: A17-A18

The safety of oral Azathioprine in Paediatric atopic dermatitis – guidelines for monitoring Nicholas R Fuggle  Walter Bragoli (BSc), Anjali Mahto (MD), Anna E Martinez, Veronica A Kinsler . Submitted for publication Oct 2013 

Mutations in EXPH5 result in autosomal recessive inherited skin fragility L. Liu, J. E. Mellerio, A. E. Martinez, J. R. McMillan,S. Aristodemou, M. Parsons, J. A. McGrath British Journal of Dermatology 2014; 170: 204-2013

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.  Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman Mf, Leigh I, Marinkovich MP, Martinez AM, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. J Am Acad Dermatol  2014; 70: 1103-26.

 Pain care for patients with epidermolysis bullosa: best care practice guidelines.Goldschneider KR, Good J, Harrop E, Liossi C, Lynch-Jordan A, Martinez AE, Maxwell LG, Stanko-Lopp D.BMC Med. 2014 Oct 9;12(1):178. [Epub ahead of print

New vascular classification of port-wine stains: improving prediction of Sturge-Webe risk.Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. Br J Dermatol. 2014 Oct;171(4):861-7. doi: 10.1111/bjd.13203. Epub 2014 Oct 1

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.Petrof G, Lwin SM, Martinez-Queipo M, Abdul-Wahab A, Tso S, Mellerio JE, Slaper-Cortenbach I, Boelens JJ, Tolar J, Veys P, Ofuya M, Peacock JL, Martinez AE, McGrath JA.J Invest Dermatol. 2015; 135:2319-21.

Mutations in EEPH5 (exophillin-5) underlie a rare subtype of autosomal recessice epidermolysis bullosa simplex.Rashidghamat E, Ozoemena L, Liu L, McGrath JA, Martinez AE, Mellerio JE. Br J Dermatol 2015 ( Epub ahead of print)

 Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa- best clinical practice guidelines. Mellerio JE, Roberston SJ, Bernardis c, Diem A, Fine JD, Goldberg D, Halmos GB, Harries M, Jonkman MF, Lucky A, Martinez AE, Maubec E, Morris S, Murrell DF, Palisson F, Pillay EI,Robson A, Salas-Alanis JC, McGrath JA. Br J Dermatol 2015 ( Epub ahead of print) 

The Frequency of Signs of Meibomian Gland Dysfunction in Children with Epidermolysis Bullosa.. Ophthalmology.Jones SM1,Smith KA2,Jain M2,Mellerio JE3,Martinez A3,Nischal KK4.2016 Feb 12. pii: S0161-6420(15)01564

 Growth and hormone profiling in children with congenital melanocytic naevi. Waelchli R, AE Martinez  Br J Dermatol. 2015 Dec;173(6):1471-8. 

 The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. Sathishkumar D et al J Invest Dermatol. 2015 Dec 29. [Epub ahead of print] 

  Mesenchymal stem cell transplant for recessive dystrophic epidermolysis bullosa: prospects and clinical progressE. Rashidghamat1, J. E. Mellerio1,2 , A. E. Martinez2, J. A. McGrath1  Expert Opinion on Orphan Drugs  2016; 4: 343-345

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C J Invest Dermatol. 2016 Mar

A 17 year retrospective review of the incidence, diagnosis and outcomes of retinal pathology in infants with incontinentia pigmenti  Martinez AE et al Ped Derm June 2016 Severe persistant imjection site reactions after subcutaneous 2”O-methly phosprothioate oligonucleotide therpY FOR DUCHENNE MUSCULAR DYSTROPHY. Domingos J, Martinez AE. Neurtomuscular Disord Novemeber 2017

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.Lee JYW, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA.J Invest Dermatol. 2017 Jun;137(6):1378-1380. doi: 10.1016/j.jid.2017.01.004. Epub 2017 Jan 19. 

 Considerations in surgical managment of Buschke-Lowenstein tumour in  Netherton Syndrome Pediatric derematol November 2017  Ashton, Martinez AE et al

Atenolol treatment for infantile haemangioma. Tasani M, Glover M, Martinez AE, Shaw L. Br J Dermatol. 2017 May;176(5):1400-1402. doi: 10.1111/bjd.15317. Epub 2017 Mar 22.  

 

Book Chapters

Staphlococcal scalded skin syndrome Martinez A and Harper JI Chapter in Treatment of Skin Disease (Mark Lebwohl, Warren Heymann, John Birth-Jones and Ian Cousion editors) 1st edition 2002 and updated 2nd edition 2004

Weary-Kindler Syndrome Martinez A and Moss C Chapter in Textbook of Pediatric Dermatology (2nd Ed.) (John Harper, Arnold Oranje, Sophia Ziekenhuis, Neil Prose editors) 2005

Proteus syndrome Carolina Sampaio, Martinez AE, Karen Baker, Fergal Monsell, Richard Houlston, Harper JI Chapter in Textbook of Pediatric Dermatology (2nd Ed 1143-1150) (John Harper, Arnold Oranje, Sophia Ziekenhuis, Neil Prose editors) 2006

Clinical management of children and adults with epidermolysis bullosa- proceedings from an international meeting Martinez AE, Mellerio JE, Atherton DA - Printed by DebRA 2004

Manifestations of metabolic disease EB. Martinez AE, Mellerio JE Professional’s handbook on the CLIMB UK July 2006

Proteus syndrome Chapter in Textbook of Paediatric Dermatology, 2nd Edition. Eds.Harper J, Oranje A, Ziekenhuis S, Prose N.  2005.

Kindler syndrome Chapter in Textbook of Paediatric Dermatology, 2nd Edition. Eds.Harper J, Oranje A, Ziekenhuis S, Prose N.  2005.

Kindler Syndrome Chapter in Textbook of Paediatric Dermatology, 3rd Edition. Eds. Irvine A, Höger P, Yan A. 2010.

Blisters Chapter in Oxford Handbook of Paediatric Dermatology. Ed. Lewis-Jones S. 2009. Martinez AE, Goodyear H

Growth & pubertal delay in patients with Epidermolysis Bullosa Martinez AE, Allgrove J, Brain C. Dermatol Clin 2010 Apr, 28(2): 357-9

Osteopenia and Osteoporosis in Epidermolysis Bullosa Martinez AE and Mellerio JE. Dermatol Clin 2010 Apr, 28(2): 353-5

Tests to monitor in patients with severe types of Epidermolysis bullosa Martinez AE Dermatol Clin 2010 Apr, 28(2): 27

Pregnancy in Epidermolysis Bullosa Martinez AE In press 2013

 

Published abstracts since 2012

Cutaneous squamous cell carcinomas in epidermolysis bullosa: a 20-year retrospective study. Felton J, Mellerio JE. Br J Dermatol 2012; 167 (S1): 55-6.                                                                                                                             

Localized junctional epidermolysis bullosa with normal dental enamel. Bhargava K, Ozoemena L, Liu L, Simpson M, Harrison K, Martinez A, McGrath JA, Mellerio JE. Br J Dermatol 2012; 167 (S1): 129.

Two cases of epidermolysis bullosa simplex assoactied with migratory circinate erythema due to a delayed termination codon in keratin 5 LE Proudfoot, JA McGrath, L Liu, A Terron-Kwiatkowski, JE Mellerio, AE Martinez 12th World Congress of Paediatric Dermatology, Madrid 2013

Sturge-Weber syndrome better predicted by novel vascular classification of facial port wine stains. Waelchli R, Glover M, Harper JI, Lomas D, Roberts N, Syed S, Aylett S, Chong WK, Martinez AE, Kinsler V 12th World Congress of Paediatric Dermatology, Madrid 2013

DRESS syndrome: the often forgotten diagnosis in paediatrics. MacKenzie AI, Martinez AE, 12th World Congress of Paediatric Dermatology, Madrid 2013

Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa  Cheung M, Mellerio JE, Martinez AE Prize Wining Abstract June 2015

Radiological Investigations of midline infantile haemangiomasnoverlying the scalp or spine- 5 year single centre experience 10.1136/ ArchDisChild  2015  

Allogenic mescenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa: an open label phase 1 single-centre trial.Petrof G, Lwin SM, Martinez-Quiepo M, Tso S, Mellerio JE, Slapen-Cortenbach I, Boelens JJ, Tolar j, Veys P, Kadiyirire t, Ofuya M, Peakcock JL, Martinez AE, McGrath J.  J Invest Dermatol 135; S71:2015

 A systematic review of the natural history of recessive dystrophic epidermolysis bullosa. Mellerio J, Robertson S, Pillay E, Denyer J, Wedgeworth E, Batten E, Martinez A. Br J Dermatol 2015; 173 (S1): 42.

Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES): development of an electronic data capture tool in recessive dystrophic epidermolysis bullosa. Pillay E, Robertson S, Martinez A, Mellerio J. Br J Dermatol 2015; 173 (S1): 

Absence of phenotypic predictors of PIK3CA mosaicism in a cohort of children with vascular malgfornations with and without overgrowth. Polubothu S,Knox R et al Ped Dermatol  June 2016

Radiological Investigations of midline infantile Haemangiomas overlying the scalp or spine: a 5 year single centre experience Cartiledge n, Kinsler V, Martinez AE   Ped Dermatol June 2016

Mortality and morbidity in UK children with recessive dystrophiv EB- 16 year data from the National UK EB Registry Alband N, Kumar DS, Martinez AE et al BAD July 2016

Acitretin use in a pediatric cohort: safety and monitoring. Cave A, Martinez AE BAD July 2016

 

Presentations and invited lectures since 2012

EB extracutaneous manifestations: DEBRA International Congress, Toronto, Canada, Sept 2012.

EB management at GOSH: EBCLINET, Salzburg EB house. Austria.  Oct 2012

Neonatal Blistering disorders Institute Child Heath April 2013

Blistering disorders Childhood- Royal Society Medicine June 2013

Endocrine, puberty and bone problems in EB, the role of inflammation Advanced EB Course, Great Ormond Street. Dec 2013

 RCGP  Faculty Annual Conference 4 thJune 2014 -Red birthmarks, red flags

 12thEuropean Society of Pediatric Dermatology 14 June 2014 Kiel Hyaline Fibromatosis

 EB Professionals Course London- Sept 2014 

Centenniel Medical Centre- Invited lecture Atopic Dermatitis Septemebr 2014

RSM Paediatric Dermatology GP training Day- 2014 Blistering Diseases

 CHILE VIII International Symposium  Dec 5-6th 2015 Invited lectures MSC for RDEB

 Guys & StThomas Invited lecture- Update on Classification and Management  EB Jan 8th 2015

 Paediatric Dermatology  Course 5-6th February 2015 Invited Lectures Ichthyosis &  Blistering Skin diseases

 DEBRA UK-Making a difference Guest Speaker 4th March 2015

 DEBRA Major City Fund Raising Day Keynote Speaker 14 May 2015

DEBRA Scientific Triannual Meeting-invited Guest May 3-6 2015 Atlanta USA

 Neonatal Blistering Consultant training GOSH 18 June 2015

 EB National Course-Update on Research 17 September London 2015

 Presentation Executive board -Outcomes for EB

 EBClinet- chaired and presented Education and Training Workshop 24 September 2015

 Debra International 24thSeptember 2015 organiser and Chair

Paediatric Dermatology  Course 5-6th February 2016 Invited Lectures

 How I manage ichthyosis & Blistering Skin diseases

 RCPCH How I manage dermatological disorders 23 February 2016 Heamangiomas 

Rare disease DayICH London- Family and family support day- EB-update on treatment and Research 10 June 2016

The Portland Hospital Seminar invited lecturer - Vascular lesions 20th September 2016 

EB Course 6 & & Oct  EB Endocrine disoreders

 RSM lecture Jan  Blistering disorders 2017

Paed dermatology course Feb 2017

RCPCH Update March 2017

ESPD Mallorca Oct 2017 Guest Lecturer

EB World Research Meeting Salzburg September 2017  EB and Bone diosease

RCPCH update Jan 2018 How I manage heamangiomas

Palliative Care International Symposium Jan 2018 EB-the Journey- Novel therapies