Odonto-oncho-dermal dysplasia Q82.9

Swiss stone pine GM, 1995

Odonto-onycho-dermal dysplasia is a very rare ectodermal dysplasia that was originally described in 2 families.

The syndrome is caused by a mutation of the WNT10A gene located on chromosome 2q35, a gene that plays an important role in the signaling pathways of hair follicles, skin and tooth morphology.

Clinically, as in the previously described Schöpf-Schulz-Passarge syndrome, with which there are broad overlaps (genotypically and phenotypically), there are abnormalities of the teeth, nails, hair and skin with, photophobia, blepharitis, keratitis, palmoplantar keratoses, hyperhidrosis on palms and soles.

1. Krøigård AB et al. (2016) Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. BMC Dermatol 16:3.
2. Nawaz S et al. (2009) WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet 17:1600-1605.
3. Pauly KJ (2018) Schöpf-Schulz-Passarge syndrome associated with two novel missense mutations of the WNT10A gene. J Dtsch Derm Ges 16: 66-69.
4. Zirbel GM et al (1995) Odonto-onycho-dermal dysplasia. Br J Dermatol 133:797-800.