FABP12 – Marie Unna Hereditary Hypotrichosis

This report describes a five‐generation Chinese family in which patients present with Marie Unna hereditary hypotrichosis alongside multiple familial trichoepithelioma. Although a variant in FABP12 was identified (rs536105592 G>A), it did not follow the canonical c. notation and was noted to be coincidental; the primary pathogenic mutation was instead ascribed to an HR variant (c.1A>G (p.Met1Val)) (PMID:30809827). There is no additional independent segregation data supporting the association of FABP12 with Marie Unna hereditary hypotrichosis. The genetic evidence for FABP12 is limited, as only a single cohort was studied and no additional families or probands have been described to confirm its pathogenic contribution. Moreover, functional studies assessing this gene’s role in hair follicle biology or demonstrating a mechanistic link to the disease phenotype have not been provided. Consequently, while the study contributes to the overall understanding of hair follicle disease genetics, the evidence specifically linking FABP12 (HGNC:34524) to Marie Unna hereditary hypotrichosis (MONDO_0018631) remains limited in both scope and impact.

In summary, the current data do not support the independent clinical utility of FABP12 testing for Marie Unna hereditary hypotrichosis. Additional genetic and functional investigations are required to clarify whether FABP12 has a contributory role in the pathogenesis of this condition.

References

• The Journal of dermatology • 2019 • Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family PMID:30809827

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