Research and publications from the Dermatology Department

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

eczema

Netherton’s syndrome

congenital melanocytic naevi

epidermolysis bullosa

morphea

vascular proliferations and malformations

PHACES syndrome

erythromelalgia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA (2010) Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol 162 (1): 201-7

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

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

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

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

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

Kinsler V, Bulstrode N (2009) The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital. J Plast Reconstr Aesthet Surg 62 (5): 595-601

Di WL, Hennekam RC, Callard RE, Harper JI (2009) A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. Br J Dermatol 161 (2): 404-12

Kinsler VA, Birley J, Atherton DJ (2009) Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes. Br J Dermatol 160 (1): 143-50

Kinsler VA, Birley J, Atherton DJ (2009) Great Ormond Street Hospital for Children Registry for Congenital Melanocytic Naevi: prospective study 1988-2007. Part 2--Evaluation of treatments. Br J Dermatol 160 (2): 387-92

Fine JD, Mellerio JE (2009) Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 61 (3): 367-84; quiz 385-6

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

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

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

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

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

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

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

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

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

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

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

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

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

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