Multiple cutaneous nodules in a 7-month-old boy

Abstract

Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease and has many manifestations involves virtually any organ. In this study, we report a TSC patient with new type skin lesions. Methods The 7-month-old patient had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. He presented with a 2-month history of gradual growth multiple cutaneous nodules. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples. Results The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). The whole-exome sequencing identified TSC1 (c.2356C>T, p.R786*) mutation in both paraffin block tissue and blood samples. Based on both clinical signs and genetic testing, our patient was definitely diagnosed with TSC and JXG was a new type of skin lesions in TSC. The symptoms improved significantly especially the JXG skin lesions after the treatment of sirolimus. Conclusion This is the first report of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in TSC and pave the way toward an understanding of the pathogenesis and treatment of JXG.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

“…As far as we know, all reported cases of classical SGS meeting the diagnostic criteria proposed by Lehman and colleagues have exhibited missense variants within a 12-basepair hotspot located in exon 4 of the SETBP1 gene (Table 1) [4,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23]. This hotspot, which encodes four amino acid residues (D868, S869, G870, and I871), known as the degron, is located within the SKI homologous region of the SETBP1 protein and is a critical site for substrate recognition by the cognate SCF-β-TrCP E3 ubiquitin ligase [4,12].…”