Latest Research

  1. Laryngocele
  2. Hydranencephaly
  3. Vasquez Hurst Sotos Syndrome
  4. Tuberculous Uveitis
  5. Tubulointerstitial Nephritis and …
  6. Gordon Syndrome
  7. Triphalangeal Thumb Polysyndactyly …
  8. Sillence Syndrome
  9. Lundberg Syndrome
  10. Lateral Body Wall Defect
  11. X-linked Ichthyosis
  12. Symphalangism Brachydactyly

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Jadassohn Lewandowsky syndrome

  1. Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement.
  2. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.
  3. Marathon of eponyms: 10 Jadassohn-Lewandowsky syndrome (Pachyonychia congenita).
  4. Steatocystoma multiplex, a rare distribution of a rare disease.
  5. Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.
  6. Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa and pachyonychia congenita.
  7. Pachyonychia congenita: a case report.
  8. Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation.
  9. Hereditary palmoplantar keratoderma: A rare case report--pachyonychia congenita (PC).
  10. Giant steatocystoma multiplex limited to the scalp.
  11. [The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]
  12. Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
  13. Pachyonychia congenita with unusual features.
  14. Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium.
  15. [Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I.]
  16. Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.
  17. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
  18. Pachyonychia congenita type I presenting with subtle nail changes.
  19. Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma.
  20. Pachyonychia congenital type 1 and alopecia areata in mother and son - pathogenetic association or a simple coexistence?