Pachyonychia congenita: a case report

Vijaikumar, M; Thappa, Devinder Mohan; Chandrashekar, Laxmisha

doi:10.1046/j.1525-1470.2001.1862011e.x

Cited by 6 publications

(4 citation statements)

References 8 publications

(13 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These characteristic nail changes are prominent thickening of the nail bed, often with progressive distal elevation. The character of the nail changes and severity of the dystrophy are variable from patient to patient . In our patient, we observed proximal layering of all the nails unlike characteristic thickened dystrophic nails of PC.…”

Section: Discussionmentioning

confidence: 51%

A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

et al. 2013

View full text Add to dashboard Cite

A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.

show abstract

Section: Discussionmentioning

confidence: 51%

A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Her mother also had a scrotal tongue, but no PC symptoms, suggesting that the scrotal tongue may be genetically related. Vijaikumar reported in 2001 that a 15-year-old boy had PC-2 since birth, with a thickened tongue and groove clefts, but no genetic sequencing was performed [ 23 ]. Du et al also reported a case of a PC-k6a patient with fissured tongue in 2012 [ 24 ].…”

Section: Resultsmentioning

confidence: 99%

A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature

Liang,

Li,

Liu

et al. 2024

Heliyon

View full text Add to dashboard Cite

“…Our patient had severe nail thickening with mucosal candidiasis, which are features of type 2 PC. Recurrent pyodermas in association with this type have been described once before in the literature (9). In addition, the patient had other features of PC, including oral leukokeratosis, xerosis, and palmoplantar hyperkeratosis.…”

mentioning

confidence: 78%

“…It has been suggested that the inherited abnormality of the oral mucosa may predispose to infection with Candida albicans in early infancy, which leads to the absence of a normal cellular response to Candida (10), and the recurrent pyoderma may also be an expression of an immune defect in type 2 PC (9). As there was a lack of family history in this patient, the possibility of a mutant gene could not be excluded.…”

mentioning

confidence: 99%