Pachyonychia Congenita

Thomas, Danny R.; Jorizzo, Joseph L.; Brysk, Miriam M.; Tschen, Jaime A.; Miller, Joanne; Tschen, Eduardo

doi:10.1001/archderm.1984.01650470081018

Cited by 32 publications

(1 citation statement)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Blister formation is often present, and the histological picture with its increasing intracellular vacuolization appears to be specific. Electron-microscopic studies of PC have revealed an increase in the tonofibrils of the basal cells (18). This increase in tonofibril density was more evident in the stratum spinosum, while intracellular edema was present in both the stratum spinosum and the granular layer.…”

Section: Discussionmentioning

confidence: 99%

A Case of Pachyonychia Congenita with Oral Leukoplakia and Steatocystoma Multiplex

Lim

Paik

Kim

1999

The Journal of Dermatology

View full text Add to dashboard Cite

Pachyonchia congenita (PC) is an uncommon autosomal dominant genodermatosis affecting the nails and other ectodermal tissues. The most striking features are symmetrically thickened dysmorphic nails and hyperkeratotic skin lesions. We report a case of pachyonychia congenita in a 30-year-old male patient who had thickening and gray-brown discoloration of all nails and many nodules on his back and neck. He also had hyperkeratotic skin lesions on both feet. His tongue had irregularly-shaped, whitish plaques. Histology of these nodules revealed the characteristic features of steatocystoma multiplex. After treatment with oral retinoic acid, his hyperkeratotic skin lesions improved.

show abstract

Section: Discussionmentioning

confidence: 99%

A Case of Pachyonychia Congenita with Oral Leukoplakia and Steatocystoma Multiplex

Lim

Paik

Kim

1999

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

Callused Feet, Thick Nails, and White Tongue

Oriba

Lo²,

Bergfeld³

1991

Arch Dermatol

View full text Add to dashboard Cite

A 39-year-old white man presented for examination of recurrent, painful blisters on his plantar surfaces, which he believed to be present since birth. Historically, the blisters usually appeared during the warm summer months and, in recent years, plantar calluses on pressure points have also developed. He offered no complaints of vision or voice.Family history revealed no consanguinity in his parents. He has three sisters, and all have nail problems and recurrent blisters on their feet. His paternal grandfather, father, uncle, and aunt are all similarly affected. He has no children.Physical examination revealed symmetrical, progressive thickening of all fingernails and toenails (Fig 1). The plantar surfaces of both feet revealed hyperkeratotic plaques over the pressure points (Fig 2). No bullae were noted. Several small blisters were observed on the palms. Scattered areas of white striae were noted on the buccal mucosa. The patient's tongue appeared hairy and white (Fig 3). No dental abnormalities were observed. A mild male-pattern alopecia involving the frontal, temporal, and vertical aspects of the scalp was noted. Routine laboratory examinaFigure 1. tion, including complete blood cell count, automated 16-channel analysis system (SMA-16) profile, and urinalysis were within normal limits. Skin biopsies of Figure 2.Figure 3.the buccal mucosa and a left plantar callus were per¬ formed (Figs 4 and 5).What is your diagnosis? Figure 4.Figure 5. Downloaded From: http://archderm.jamanetwork.com/ by a UNIVERSITY OF SYDNEY LIBRARY User on 06/09/2015

show abstract