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Disease: Steatocystoma multiplex with natal teeth

  • Facial papules in an adolescent with a history of natal teeth
  • Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity
  • Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
  • Natal teeth and steatocystoma multiplex complicated by hidradenitis suppurativa. A new syndrome
  • Natal teeth and steatocystoma multiplex: a newly recognized syndrome
  • Pachyonychia congenita
  • Pachyonychia congenita type 2: an unusual presentation
  • Pachyonychia congenita with late onset (PC tarda)
  • Pachyonychia congenita. Keratin gene mutations with pleiotropic effect
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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