ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

Authors

  • Girolamo Mattioli Pediatric Surgery Unit, IRCCS Gaslini, DINOGMI Department, University of Genoa, Genoa, Italy
  • Andrea Diociaiuti Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome
  • Sabrina Rossi Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • Giovanna Zambruno Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • Marcello Carlucci Pediatric Surgery Unit, IRCCS Gaslini, Genoa, Italy
  • Elisa Pisaneschi Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • May El Hachem Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome

DOI:

https://doi.org/10.2340/actadv.v102.935

Keywords:

α6β4 integrin, hemidesmosome, enamel defects, hydroureteronephrosis, urethral obstruction, neo-bladder

Abstract

Abstract is missing (Short communication)

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References

Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183: 614-627.

https://doi.org/10.1111/bjd.18921

Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 1998; 63: 1376-1387.

https://doi.org/10.1086/302116

Diociaiuti A, Castiglia D, Morini F, Boldrini R, Fortugno P, Zambruno G, et al. Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta Derm Venereol 2013; 93: 116-118.

https://doi.org/10.2340/00015555-1381

Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol 2008; 88: 438-448.

https://doi.org/10.2340/00015555-0484

Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, et al. Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations. Br J Dermatol 2013; 169: 115-124.

https://doi.org/10.1111/bjd.12317

Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, et al. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr 2008; 47: 585-591.

https://doi.org/10.1097/MPG.0b013e31817af98d

Lee M, Chen Q, Wang H, Zhang J, Lin Z, Yang Y. ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement. Acta Derm Venereol 2015; 95: 112-113.

https://doi.org/10.2340/00015555-1888

Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT. Clinical outcomes and molecular profile of patients with Carmi syndrome: a systematic review and evidence quality assessment. J Pediatr Surg 2019; 54: 1351-1358.

https://doi.org/10.1016/j.jpedsurg.2018.05.019

Ellis C, Eason C, Snyder A, Siegel M, Pai GS, Ryan E, et al. Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy. JAAD Case Rep 2021; 11: 63-68.

https://doi.org/10.1016/j.jdcr.2021.03.016

Liebert M, Washington R, Wedemeyer G, Carey TE, Grossman HB. Loss of co-localization of alpha 6 beta 4 integrin and collagen VII in bladder cancer. Am J Pathol 1994; 144: 787-795.

Burgu B, Duffy PG, Wilcox DT. Single-centre experience of genitourinary complications of epidermolysis bullosa. J Pediatr Urol 2006; 2: 583-586.

https://doi.org/10.1016/j.jpurol.2006.01.007

Chan SM, Dillon MJ, Duffy PG, Atherton DJ. Nephro-urological complications of epidermolysis bullosa in paediatric patients. Br J Dermatol 2007; 156: 143-147.

https://doi.org/10.1111/j.1365-2133.2006.07516.x

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Published

2022-05-10

How to Cite

Mattioli, G., Diociaiuti, A., Rossi, S., Zambruno, G., Carlucci, M., Pisaneschi, E., & El Hachem, M. (2022). ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges. Acta Dermato-Venereologica, 102, adv00706. https://doi.org/10.2340/actadv.v102.935

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