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Z. Khamaysi, E. Sprecher, R. Bergman, Happle–Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry–Jones syndrome: reply from the authors, British Journal of Dermatology, Volume 175, Issue 5, 1 November 2016, Page 1109, https://doi.org/10.1111/bjd.14979
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Funding sources: none.
Conflicts of interest: none declared.
Dear Editor, We read with interest Happle and Tinschert's comment ‘Happle–Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry–Jones syndrome’.1
We believe that our case belongs to the spectrum of Gorlin syndrome (MIM #109400) because most of the biopsies in our patient demonstrated classical nodular, pigmented, adenoid and superficial basal cell carcinomas (BCCs) (Fig. 2a–c in our article).2 This is not congruent with the findings typical of Happle–Tinschert syndrome (HTS), in which the skin lesions are basaloid follicular hamartomas (BFHs) by definition. In that sense, our case cannot be considered as HTS. On the other hand, BFH pathogenesis may be associated with dysregulation of patched expression, as in most cases of Gorlin syndrome,3 and some argue that the histopathological features of BFH and infundibulocystic BCC represent a spectrum of the same entity.3,4
