Clinical nail damage, consisting of hyperkeratosis, onycholysis, onychoschizia, and pachyonychia
, appeared in 5 of the 47 patients (11%).
PTX-022 is a novel, topical formulation of rapamycin currently in Phase 2/3 development for the treatment of pachyonychia
congenita, a rare skin disorder for which no FDA-approved treatment exists.
congenita (PC) It is an autosomal dominant disorder characterized by focal palmoplantar keratoderma, subungual hyperkeratosis of nails, often accompanied by oral leukokeratosis, various types of cysts, follicular hyperkeratosis and palmoplantar hyperhidrosis.
Differential diagnosis includes Werner syndrome, focal dermal hypoplasia, alopecia areata, aplasia cutis congenita, incontinentia pigmenti, dyskeratosis congenital, familial simple anhidrosis, Naegeli-Franceschetti-Jadassohn syndrome, and pachyonychia
Hereditary causes include pachyonychia
congenita, Mal de Meleda, Unna-Thost, Vohwinkel, Papillon-Lefevre syndrome, [3,4] mutilating keratoderma, lamellar ichthyosis.
Mutations in these KRTs have been shown to cause pachyonychia
congenita, a rare genodermatosis characterized by dystrophic, thickened nails and painful palmoplantar keratoderma.
Ellis Van Creveld syndrome (chondroectodermal dysplasia),9 cyclopia, pachyonychia
congenita, cleft lip and palate, Down's syndrome, Pierre-Robin, Pallister-Hall, short rib-polydactyly type II, Wiedeman-Rautenstrauch (neonatal progeria).10,5
Steatocystoma multiplex can be associated with pachyonychia
congenita type 2 (which is characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and myriad conditions associated with ectodermal dysplasia) or eruptive vellus hair cysts [1,5].
Considering the symptoms of skin pigmentation, nail dystrophy and oral white patch, a differential diagnosis of pachyonychia
congenita and dyskeratosis congenita were considered, and skin histopathological analysis was sent.
Citation: "Development of SkinHumanized Mouse Models of Pachyonychia
Congenita;" Marta Garcia, Marcela Del Rio, et al.; Journal of Investigative Dermatology, 2010; 131 (5): 1053 DOI: 10.103b7jid.2010.353
Citation: "Development of Skin-Humanized Mouse Models of Pachyonychia
Congenita;" Marta Garcia, Marcela Del Rio, et al.; Journal of Investigative Dermatology, 2010; 131 (5): 1053 DOI: 10.1038/jid.2010.353