Grants collaborating with:

 

Dystrophic Epidermolysis Bullosa Research Association

(Co-awardees R Howard, JE Mellerio)

“Randomised, placebo-controlled, double blind crossover study of the efficacy and side effects of low dose amitriptyline for chronic pain, disordered sleep and reduced mobility in school age children with epidermolysis bullosa”

£90,000 September 2006-September 2011

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 20131)

To develop and integrate the hand deformity charting and hand therapy outcomes systems.

£40,000

 

Representation on Local and National Bodies

 

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

Training Committee for Paediatric Dermatology 2007 to date. 

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

Chair and organise the monthly dermatology senior staff meeting 2008 on going

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

Point Of Care Committee 2012 on going 

Outpatients Improvement Stakeholder Group 2013

Medical Advisor Board Ichthyosis Support Group

Scientific Advisory Board of DEBRA America

 

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 Dermatological Research

 

 

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 Childhood
volume 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: 204-207

 

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 2006

National audit of compliance with iron therapy in children with epidermolysis bullosa.  Kaur MR, Martinez A, Mellerio J, Moss C.  Br J Dermatol 2006; 155 (S1): 109-10.

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 psycholsocial variables.  Soon K, Mason R, Price F, Martinez A, Mellerio JE. Br J Dermatol 2008; 159 (S1): 115-6.

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.

 A case of autosomal recessive bullous ichthyosiform erythroderm presented by Dr N Webber on my behalf 6-7 November 2009 at British Society Of Paediatric Dermatology

Keratoderm, skin fragility and sparse hair due to desmoplakin mutations presented by Dr V Pinder on my behalf 16th April 2009 at Royal Society of Medicine

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.  Van den Akker P, Mellerio J, Martinez A, Liu L, Dopping-Hepenstal PJ, van Essen A, Scheffer H, Hofstra R, McGrath JA, Jonkman M. J Invest Dermatol 2010; 130 (S2): S78.

The epidemiology of epidermolysis bullosa in the UK: a 9-year study.  Browne F, Heagerty AHM, Martinez A, Mellerio J, Moss C.  Br J Dermatol 2011; 165 (S1): 11.

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

 

Presentations and invited lectures

Prescribing in Dermatology: European Academy of Skin Disease Annual Meeting London Oct 2005

The Clinical Management of Epidermolysis Bullosa:   BAD Annual Meeting July 2005

The Dermatological Manifestations of Gastrointestinal Disease: Institute of Child Health Oct 06 & 08

Prescribing in Paediatric Dermatology: RCPCH York Annual Meeting. April 2006

Clinical manifestations and management of EB: EB Scientific committee, Dublin Sept 2006

Bone Health: Academic Meeting Institute of Child Health and Great Ormond Street Hospital Nov 2006

Palliative management in Epidermlysis Bullosa: Keech Cottage-Care Managers and Hospice Doctors conference Bedfordshire, November 2009

Bone Health in epidermolysis bullosa: Fourth International Symposium on Epidermolysis Bullosa, Santiago, Chile, September 2007.

Gastrointestinal complications of Epidermolysis bullosa: World Congress of Dermatology, Buenos Aires, Argentina, October 2007.

Epidermolysis bullosa simplex with mottled pigmentation caused by a novel missense mutation in the keratin 5 gene. Presentation at the British Society for Paediatric Dermatology Annual Meeting, London, November 2007.

What’s new in EB management: Geneskin symposium on EB management, Groningen, Netherlands, March 2008. 

Update on EB: EB Carers National Meeting- Management of children with Epidermolysis Bullosa Oct 2009 GOSH 

Growth and pubertal delay in children with Epidermolysis bullosa: XVII Congresso Iberolatinoamericano de Dermatologica, Cancun, Mexico, November 2010.

How to  manage EB: 2nd international EB conference DebRA Spain. Madrid December 2010

Multidisciplinary approach to the EB patient: the Great Ormond Street experience

Extracutaneous features of EB: Together Against Genodermatoses Practical Course in EB, Ospedale Bambino Gesu, Rome, Italy, November 2011.

Clinical manifestations of epidermolysis bullosa:  European Academy of Dermatology and Venereololgy ( EADV) Verona May 2012

Growth and pubertal complications of EB: Advanced EB Course, Great Ormond Street, Sept 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