Pachyonychia congenita, a paradigm for rare skin disorders

Pachyonychia congenita: A rare genodermatosis

Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis ...

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable exception to this exists for pachyonychia congenita (PC), a rare, dominant-negative keratin disorder. The establ...

Challenges in developing therapies for rare diseases including pachyonychia congenita.

The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient populations with an emphasis on pachyonychia congenita.

Development of skin-humanized mouse models of pachyonychia congenita.

Molecular characterization and assessment of therapeutic outcomes for inherited cutaneous disorders requires faithful preclinical models. In this study we report the establishment of two different skin-humanized pachyonychia congenita (PC) model systems, based on permanent engraftment of bioengineered skin equivalents generated from patient skin cells onto immunodeficient mice. Using keratinocy...

Pachyonychia Congenita in a Toddler