Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

Abstract

All diagnostic tools should be evaluated to clarify the diagnosis of JEB-H. We have identified 11 different mutations in 22 patients with JEB-H, three of them novel. In the Netherlands the incidence rate of JEB-H is 4·0 per one million live births. The carrier frequency of a JEB-H mutation in the Dutch population is 1 in 249.

Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin

“…Laminin-332, a heterotrimer consisting of an α3-, β3-, and γ2-chain encoded by the genes LAMA3 , LAMB3 , and LAMC2 , respectively [1-5], is undetectable in most of these patients. More than 90% of them carry homozygous or compound-heterozygous premature termination codons (PTCs) in one of the three genes [6, 7], resulting in complete absence of functional laminin-332 and thus in a devastating clinical course with widespread erosions of the epidermis and mucous membranes, loss of protein, fluids, and iron, compromised wound healing, excessive formation of granulation tissue, respiratory complications, infections, and death within the first years of life [2, 4, 7]. Despite elaborate therapeutic approaches, including allogeneic stem cell transplantation, protein replacement therapy, and gene therapy, which has not yet been evaluated in clinical trials [7-12], severe generalized JEB cannot be cured so far.…”

“…Despite elaborate therapeutic approaches, including allogeneic stem cell transplantation, protein replacement therapy, and gene therapy, which has not yet been evaluated in clinical trials [7-12], severe generalized JEB cannot be cured so far. Treatment is symptomatic and focused on palliative care [4, 13]. …”

Epidermolysis bullosa in Greece: the patients’ journey so far

“…Concerning the second-frequency subtypes, these were EBS, gen-sev and DDEB, gen-sev or RDEB in the Netherlands" study, while in the present study were EBS, gen-i and RDEB, gen. 15 Similarly to our results, a study in Scotland demonstrated that the rarest subtype of EBS was generalized severe and the most common one of DEB was DDEB, gen followed by RDEB subtypes. 17 On the contrary, in one study in Italy and in another study in Croatia, the most frequent subtype of EBS was generalized following intermediate followed by the localized form and the most common ones of DEB were either DDEB, following gen-sev or following RDEB pursued by DDEB, gen. In agreement with our data on JEB, generalized following intermediate subtype was recorded as the most frequent subtype.…”

Impact de l'interféron gamma sur la production de la kératine 15 dans les kératinocytes isolés de la peau de patients atteints d'épidermolyse bulleuse simplex /

“…Le groupe EBJ de Herlitz présente le phénotype le plus sévère. La plupart des nourrissons atteints succombent à la maladie dès la naissance à cause de l'infection généralisée (Yuen et al, 2011). Le type EBJ est dû aux mutations homozygotes ou hétérozygotes faisant apparaitre un codon de terminaison prématuré (CTP) qui touchent un des trois gènes codant pour la laminine 332 (Aberdam et al, 1994).…”