Research and publications from the Dermatology Department

Principle areas of research in paediatric dermatology at Great Ormond Street Hospital include the following:


Netherton’s syndrome

congenital melanocytic naevi

epidermolysis bullosa


vascular proliferations and malformations

PHACES syndrome



Reference 1

Di WL, Larcher F, Semenova E, Talbot GE, Harper JI, Del Rio M, Thrasher AJ, Qasim W (2011) Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts. Mol Ther 19 (2): 408-16

Reference 2

van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF (2011) The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet 48 (3): 160-7

Reference 3

Goldschneider K, Lucky AW, Mellerio JE, Palisson F, del Carmen Viñuela Miranda M, Azizkhan RG (2010) Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008. Paediatr Anaesth 20 (9): 797-804

Reference 4

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H (2010) Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 20 (11): 709-11

Reference 5

Lara-Corrales I, Mellerio JE, Martinez AE, Green A, Lucky AW, Azizkhan RG, Murrell DF, Agero AL, Kantor PF, Pope E (2010) Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol 27 (3): 238-43

Reference 6

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA (2010) Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol 163 (3): 624-9

Reference 7

Pérez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA (2010) Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 35 (8): 881-4

Reference 8

Mellerio JE (2010) Epidermolysis bullosa care in the United Kingdom. Dermatol Clin 28 (2): 395-6, xiv

Reference 9

Martinez AE, Mellerio JE (2010) Osteopenia and osteoporosis in epidermolysis bullosa. Dermatol Clin 28 (2): 353-5, xi

Reference 10

Almaani N, Mellerio JE (2010) Genitourinary tract involvement in epidermolysis bullosa. Dermatol Clin 28 (2): 343-6, xi

Reference 11

Mellerio JE (2010) Infection and colonization in epidermolysis bullosa. Dermatol Clin 28 (2): 267-9, ix

Reference 12

Almaani N, Nagy N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Clements SE, Techanukul T, Tanaka A, Mellerio JE, McGrath JA (2010) Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 130 (7): 1937-40

Reference 13

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA (2010) A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 130 (6): 1551-7

Reference 14

McGrath JA, Mellerio JE (2010) Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 28 (1): 125-9

Reference 15

Reference 16

Yilmaz A, Hamel N, Schwartz CE, Houlston RS, Harper JI, Foulkes WD (2010) A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays. J Hum Genet 55 (9): 627-30

Reference 17

O'Shaughnessy RF, Choudhary I, Harper JI (2010) Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis. Hum Mol Genet 19 (13): 2594-605

Reference 18

Manunza F, Syed S, Laguda B, Linward J, Kennedy H, Gholam K, Glover M, Giardini A, Harper JI (2010) Propranolol for complicated infantile haemangiomas: a case series of 30 infants. Br J Dermatol 162 (2): 466-8

Reference 19

Harper JI, Godwin H, Green A, Wilkes LE, Holden NJ, Moffatt M, Cookson WO, Layton G, Chandler S (2010) A study of matrix metalloproteinase expression and activity in atopic dermatitis using a novel skin wash sampling assay for functional biomarker analysis. Br J Dermatol 162 (2): 397-403

Reference 20

McGrath JA, Mellerio JE (2010) Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 28 (1): 125-9

Reference 21

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Reference 24

Reference 25

Reference 26

Fine JD, Mellerio JE (2009) Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 61 (3): 387-402; quiz 403-4

Reference 27

Jephson CG, Manunza F, Syed S, Mills NA, Harper J, Hartley BE (2009) Successful treatment of isolated subglottic haemangioma with propranolol alone. Int J Pediatr Otorhinolaryngol 73 (12): 1821-3

Reference 28

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

Reference 29

Howell KJ, Lavorato A, Visentin MT, Smith RE, Schaefer G, Jones CD, Weibel L, Denton CP, Harper JI, Woo P (2009) Validation of a protocol for the assessment of skin temperature and blood flow in childhood localised scleroderma. Skin Res Technol 15 (3): 346-56

Reference 30

Purvis DJ, Bhogal BS, Harper JI (2009) Bullous pemphigoid in an infant using complementary medicine. Clin Exp Dermatol 34 (2): 195-8

Reference 31

Kinsler VA, Chong WK, Aylett SE, Atherton DJ (2008) Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. Br J Dermatol 159 (4): 907-14

Reference 32

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58 (6): 931-50

Reference 33

Freeman EB, Köglmeier J, Martinez AE, Mellerio JE, Haynes L, Sebire NJ, Lindley KJ, Shah N (2008) Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol 158 (6): 1308-14

Reference 34

Hoey SE, Eastwood D, Monsell F, Kangesu L, Harper JI, Sebire NJ (2008) Histopathological features of Proteus syndrome. Clin Exp Dermatol 33 (3): 234-8

Reference 35

Lucky AW, Palisson F, Mellerio JE (2008) The IVth International Symposium on Epidermolysis Bullosa, Santiago, Chile, 27-29 September 2007. J Dermatol Sci 49 (2): 178-84

Reference 36

Reitamo S, Rustin M, Harper J, Kalimo K, Rubins A, Cambazard F, Brenninkmeijer EE, Smith C, Berth-Jones J, Ruzicka T, Sharpe G, Taieb A, 0.1% Tacrolimus Ointment Long-term Follow-up Study Group (2008) A 4-year follow-up study of atopic dermatitis therapy with 0.1% tacrolimus ointment in children and adult patients. Br J Dermatol 159 (4): 942-51

Reference 37

Syed S, Weibel L, Kennedy H, Harper JI (2008) A pilot study showing pulsed-dye laser treatment improves localized areas of chronic atopic dermatitis. Clin Exp Dermatol 33 (3): 243-8

Reference 38

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP (2008) Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol 158 (3): 611-3

Reference 39

Weibel L, Harper JI (2008) Linear morphoea follows Blaschko's lines. Br J Dermatol 159 (1): 175-81