missense mutation (rs201253322) in PASH syndrome 4 was also located in the same exon (c. 1213 C>T; p. Arg405Cys).Association testing of SNVs with Hurley staging and found that rs116895455 remained significant after adjustment for gender, smoking history and BMI (P = 0.018). rs116895455 is located in intron 12 of PSTPIP1, within a candidate cis-regulatory element. All patients with the heterozygous CG genotype (n = 4) were diagnosed with more severe disease, and three bore the A*24:02-B*54:01-C*01:02 haplotype. Coincidentally, B*54 is associated with Vogt-Koyanagi-Harada syndrome, 9 which affects pigmented parts of the body including skin. Furthermore, the association of the same alleles with a different disease suggests a tantalizing role for the HLA allele in both disorders.In conclusion, we have described SNVs in c-secretase and PSTPIP1 in the Singapore Chinese HS population. Our results suggest that regions controlling gene expression and splicing might be key to understanding the disease, therefore, future work in HS should utilize exome sequencing and transcriptome analysis techniques.

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the layers as well as alterations in nail thickness with keratotic areas either visualized as bright dots or stripes at OCT scans.Moreover, the nail bed showed subungual dark gaps and variations in thickness and signal intensity. The clinical improvement of the nails under alitretinoin therapy could further be visualized (Fig. 1f,h). The diffuse waving of the nail surface became smoothened, and both the nail plate and nail bed appeared thinned and more regular in OCT-signal intensity. Also onycholysis, detectable as a hyporeflective area with a well-demarcated border, markedly improved under alitretinoin treatment. In clinical follow-ups, a further reduction of the nail dystrophy and normalization of the nail plate was shown after 18-months therapy with oral alitretinoin. The male patient showed a stable clinical course under a combination of local pimecrolimus 1% and betamethasone valerate 1%, while the female patient was lost to follow-up.Retrospective studies with patients with mucosal and cutaneous LP showed that discontinuation of treatment due to an insufficient therapeutic response or side effects occurred more often with acitretin compared to alitretinoin. [3][4][5] Further studies reported the efficacy and tolerability of alitretinoin in patients with different LP forms, including NLP. [3][4][5] Alitretinoin and acitretin are both vitamin A derivatives but with different pharmacodynamics and clinical profiles. 3 Alitretinoin is a first-generation retinoid, and pan-retinoid-receptor agonist signals through both RAR and retinoid X receptors (RXR); acitretin, a second generation retinoid, activates only retinoid acid receptors (RAR).The therapy of NLP is challenging because of frequent unresponsiveness to local therapy. Our report suggests alitretinoin to be considered the preferred treatment in cases of NLP resistant to topical treatment due to efficacy, tolerability, and better teratogenic profile compared to acitretin.