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MBTPS2-pEDD

Previously: Olmsted syndrome, X-linked (OLMSX)

pEDD Gene: MBTPS2 XLR

Onset: Birth

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Severe destructive, painful PPK, periorificial plaques, hair fragility, alopecia, nail dystrophy.

Additional Cutaneous Features

Severe destructive, painful PPK, periorificial and generalized plaques, hair fragility and alopecia, nail dystrophy

References

Haghighi A, Scott CA, Poon DS et al. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol 2013; 133:571-3.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer