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Table 2 Differential diagnosis and underlying molecular basis

From: Olmsted syndrome: clinical, molecular and therapeutic aspects

Disease

Gene

Mode of inheritance

Vohwinkel syndrome

GJB2, LOR

Autosomal dominant

Mal de Meleda

SLURP1

Autosomal recessive

Papillon-Lefèvre syndrome

CTSC

Autosomal recessive

Clouston syndrome

GJB6

Autosomal dominant

Pachyonychia congenita

KRT6A, KRT6B, KRT16 and KRT17

Autosomal dominant

Tyrosinemia type II

TAT

Autosomal recessive

Haim-Munk syndrome

CTSC

Autosomal recessive

Acrodermatitis enteropathica

SLC39A4

Autosomal recessive