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August 24, 2026Brain and Development Case ReportsOpen Access

A case report of Farber disease with extensive Mongolian spots

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Authors

SOShin OsakiMTMichiko TorioKKKyoko Kudo

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Overview

Case report reveals persistent extensive Mongolian spots in a child with Farber disease, indicating skin pigmentation anomalies may serve as early diagnostic markers for ASAH1-related disorders.

Key Points

  • Describe the clinical, histopathological, and genetic characteristics of a pediatric patient presenting with extensive Mongolian spots alongside classical features of Farber disease.
  • Evaluated a 4-year-old female patient presenting with extensive birthmarks, developmental delays, joint swelling, and subcutaneous nodules.
  • Performed whole-genome sequencing to identify underlying genetic variants and conducted a skin biopsy of a subcutaneous nodule for histological evaluation.
  • Identified compound heterozygous variants in the ASAH1 gene, and nodule biopsy revealed characteristic granuloma formation with foamy cells, confirming Farber disease.
  • Documented extensive Mongolian spots across the trunk and limbs from birth that persisted without typical age-related regression through age 4.

Cite This Study

Osaki et al. (2026) studied this question.

synapsesocial.com/papers/6a8c005bbca056c88e6df149https://doi.org/10.1016/j.bdcasr.2026.100155
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