Phenotypic variability associated withWNT10Anonsense mutations

Abstract

IL-17A and IL-17F, which are produced by Th17 cells, were elevated (IL-17A: clopidogrel, 237AE8 pg mL )1 ; control, not detected; and IL-17F: clopidogrel, 187AE3 pg mL )1 ; control, not detected). On the other hand, the serum IL-17A level was below the detection limit (< 60 pg mL )1 ), and the serum IL-17F level was elevated (clopidogrel, 265AE0 pg mL )1 ; control, 120AE2 pg mL )1 ).AGEP is a rare and severe skin eruption, of which 90% of cases are induced by drugs such as antibiotics, calcium channel blockers, carbamazepine, antimycotics, nonsteroidal antiinflammatory drugs and paracetamol, 3 but clopidogrel has not previously been reported as a cause of AGEP.The mechanism of AGEP is not fully understood, but drugspecific CD4+ T cells have been considered to be involved in neutrophil-rich inflammatory responses and to orchestrate the immune reaction directly by the production of IL-8, a chemoattractant for neutrophils. 4 On the other hand, it has also been hypothesized that AGEP might be induced indirectly via the production of IL-17, which that induces IL-8 production; 5 however, this has not yet been proven. In this report, we have presented the first case of AGEP with a positive DLST for clopidogrel, and elevated IL-17A and IL-17F in the culture supernatant. Although it is limited to a single case, our study suggests that Th17 may be involved in the pathogenesis of AGEP.

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum

“…Odonto-onycho-dermal dysplasia (OODD) is an autosomal recessive ectodermal dysplasia which shares with SSPS features like PPK and facial telangiectases, but lacks eyelid cysts. Further reports expanded the mutational and clinical spectrum of WNT10A to include three sporadic patients with features compatible with SSPS (10,(12)(13)(14). Further reports expanded the mutational and clinical spectrum of WNT10A to include three sporadic patients with features compatible with SSPS (10,(12)(13)(14).…”

Variability in dentofacial phenotypes in four families with WNT10A mutations

“…The proband is a 9-year-old boy of Belgian descent (patient A II-2) with TA of 22 permanent teeth. Only six permanent teeth (16,11,21,26, 36 and 46) developed while his mother reported that her son had a complete deciduous dentition. The upper permanent central incisors are conically shaped and the upper first permanent molars are hypoplastic.…”

“…Clinical examination proband. In her permanent dentition, she has severe TA of 23 teeth (17, 15, 14 (16,13,23, 33 and 46), two of which have a conical shape and one being hypoplastic. Although her mandible is also retruded, leading to a convex profile, the dished-in appearance is again the most catching feature in her facial profile.…”

WNT10A and isolated hypodontia

“…OODD and SSPS share common characteristics, including severe hypodontia, nail dystrophy, palmoplantar keratoderma, smooth tongue, hyperhidrosis, and hypotrichosis. Multiple eyelid apocrine hidrocystomas appear to be pathognomonic for SSPS [Sch€ opf et al, 1971;Fadhil et al, 1983;Megarbane et al, 2004;Castori et al, 2008;Bohring et al, 2009;Nagy et al, 2010;van Geel et al, 2010]. Genotype-phenotype correlations have been demonstrated within WNT10A-associated syndromes by Bohring et al [2009].…”