Introduction: We present a retrospective study of the skin biopsies analyzed in our laboratory
during the past 15 years. We compared ultrastructural and genetic data for the biopsies
displaying positive ceroid lipofuscinosis (CLN) features.
Results: We found 95 positive skin biopsies, that is, displaying either curvilinear bodies
(CBV), fingerprints (FP) or GRODS.
CVB represented the prominent population (> 50%), isolated or in association with
FP and occurred respectively in CLN2 and CLN7 mutations.
Conversely, CLN2, CLN6, and CLN7 mutations represented the most frequent mutations
in our population.
The CBV+FP lesions are the ones with the higher probability of having a CLN genetic
definition, while FPs and GRODs remained poorly genetically defined.
Conclusion: Our study highlights the essential complementarity between the morphological and
the genetic approach for the CLN diagnosis elaboration, in terms of results but also
the orientation of genetic analyses.
