pachyonychia


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pachyonychia

 [pak″e-o-nik´e-ah]
abnormal thickening of the nails.
pachyonychia conge´nita a congenital autosomal dominant syndrome primarily affecting males, characterized by increased thickness of the nails, hyperkeratosis involving the palms, soles, knees, and elbows, widespread tiny cutaneous horns, leukoplakia of the mucous membranes, and usually excessive sweating of the hands and feet; sometimes associated with development of bullae on palms and soles after trauma.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

pach·y·o·nych·i·a

(pak'ē-ō-nik'ē-ă),
Abnormal thickness of the fingernails or toenails.
[pachy- + G. onyx, nail]
Farlex Partner Medical Dictionary © Farlex 2012

pach·y·o·nych·i·a

(pak'ē-ō-nik'ē-ă)
Abnormal thickness of the fingernails or toenails.
[pachy- + G. onyx, nail]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

pachyonychia

Abnormal thickness of the nails.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
References in periodicals archive ?
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.
Pachyonychia 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 congenita.
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