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Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex.

Abstract：

OBJECTIVE:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions. METHODS:A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples. RESULTS:The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC. CONCLUSION:This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.

journal_name

Orphanet J Rare Dis

journal_title

Orphanet journal of rare diseases

authors

Lu Q,Shi XY,Wang YY,Zhang MN,Wang WZ,Wang J,Wang QH,Chen HM,Zou LP

doi

10.1186/s13023-020-01396-7

subject

Has Abstract

pub_date

2020-06-12 00:00:00

pages

147

issue

1

issn

1750-1172

pii

10.1186/s13023-020-01396-7

journal_volume

15

pub_type

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