نتایج جستجو برای: pachyonychia congenital

تعداد نتایج: 120621  

2014
Kun Guo Shengxiang Xiao Songmei Geng

Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia...

Ahmadreza Rajaee Amirhushang Ehsani Fatemeh Moeineddin

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal tee...

Amir Hooshang Ehsani Katrin Kiavash

Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...

Journal: :Anales de pediatria 2016
O Micol-Martínez V López-González P W Garcia-Marcos T Martínez-Menchón E Guillén-Navarro

Journal: :IP Journal of Otorhinolaryngology and Allied Science 2022

Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition characterized by cutaneous manifestation mainly hyperkeratosis skin and mucosae hypertrophy nails. In this condition, almost 50% the patients will have oral leukokeratosis. The case report here 15 years old girl, presented with dystrophic, thickened fingernails toenails subun...

Journal: :acta medica iranica 0
vitorino modesto dos santos catholic university medical course, brasília-df, brazil . and department of internal medicine, armed forces hospital, brasília-df, brazil. thiago pereira loures department of internal medicine, armed forces hospital, brasília-df, brazil. joão daniel bringel rego division of pneumology, armed forces hospital, brasília-df, brazil. christiane aires teixeira division of pneumology, armed forces hospital, brasília-df, brazil. kayursula dantas de carvalho department of internal medicine, armed forces hospital, brasília-df, brazil. afonso lucas oliveira nascimento department of internal medicine, armed forces hospital, brasília-df, brazil.

pachyonychia congenital (pc) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. a 39-year-old woman with pc type 1 (jadassohn-lewandowsky syndrome) and b-cell lymphoma is described. no similar disorders or parental consanguinity were found in her family. typical features of pc developed si...

Journal: :Pediatric dermatology 2009
Matilde Iorizzo Colombina Vincenzi Frances J D Smith Neil J Wilson Antonella Tosti

Pachyonychia congenita type I is an autosomal dominant disorder where nail abnormalities are a constant feature and develop during childhood. We report here a family with pachyonychia congenita type I and very mild nail changes to underline that this diagnosis should be considered even in the absence of severe nail thickening.

Journal: :Acta medica Iranica 2014
Vitorino Modesto dos Santos Thiago Pereira Loures João Daniel Bringel Rego Christiane Aires Teixeira Kayursula Dantas de Carvalho Afonso Lucas Oliveira Nascimento

Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. No similar disorders or parental consanguinity were found in her family. Typical features of PC developed si...

Journal: :Pediatric dermatology 2011
Richard M Haber Derek Drummond

Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstructio...

Journal: :Proceedings of the Royal Society of Medicine 1966

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