Back to Database

SMARCAD1-pEDD

Previously: Huriez syndrome

pEDD Gene: SMARCAD1 AD

Onset: Childhood

Pathway: Transcription factors

Category Paper: pEDD Paper

Key Clinical Clues

Scleroatrophy of fingers, absent dermatoglyphics, milia; SCC; localized hypohidrosis.

Additional Cutaneous Features

Scleroatrophy of fingers, absent dermatoglyphics, milia during first months of life, localized hypohidrosis, marked clinical variability, SCC (squamous cell carcinoma)

References

Gunther C, Lee-Kirsch MA, Eckhard J et al. SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility. J Invest Dermatol 2018; 138:1428-31.

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