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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