GTR Home > Conditions/Phenotypes > Dermatopathia pigmentosa reticularis

Summary

A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis. [from ORDO]

Available tests

15 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CK14, EBS3, EBS4, K14, NFJ, KRT14
    Summary: keratin 14

Clinical features

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