| Two cases of leukoplakia of the anal canal are presented, with illustrations of the typical gross and microscopic appearance. The lesions were asymptomatic, and were discovered by routine rectal examination. Histological findings included hyperkeratosis and acanthosis extending cephalad from the anal verge to the dentate line. Followup after 3 and 15 years revealed no evidence of dysplastic changes, and a review of the literature did not uncover any reported cases with dysplasia or with documented evolution to malignancy. There is little evidence that leukoplakia of the anal canal is premalignant but patients should be followed carefully, since the natural history of this rare lesion is unknown. ( info) |
2/130. Proliferative verrucous leukoplakia with cutaneous involvement. Proliferative verrucous leukoplakia (PVL) is a distinct variant of oral leukoplakia characterized by a high rate of malignant transformation. Histologic features are variable and range from epithelial dysplasia to verrucous squamous cell carcinoma. To our knowledge, there have been no previous reports of cutaneous PVL. We present an interesting case of PVL involving the skin. ( info) |
| pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone. These earlier analyses employed an RT-PCR approach to avoid amplification of K16-like pseudogenes. Here, we have cloned the K16 gene (KRT16A) and two homologous pseudogenes (psiKRT16B and psiKRT16C), allowing development of a genomic mutation detection strategy based on a long-range PCR, which is specific for the functional K16 gene. We report a novel heterozygous 3 bp deletion mutation (388del3) in K16 in a sporadic case of PC-1. The mutation was detected in genomic dna and confirmed at the mRNA level by RT-PCR, showing that our genomic PCR system is reliable for K16 mutation detection. Using this system, we carried out the first prenatal diagnosis for PC-1 using CVS material, correctly predicting a normal fetus. This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK. ( info) |
4/130. Proliferative verrucous leukoplakia: report of two cases and a discussion of clinicopathology. Proliferative verrucous leukoplakia (PVL) is a recently delineated but poorly recognized form of multifocal leukoplakia that is premalignant and of unproven origin. PVL generally presents as a simple benign form of hyperkeratosis that tends to spread and become diffuse. Although slow-growing, the disease is persistent and irreversible. Clinically, PVL often presents as an exophytic wart-like form of leukoplakia that appears to be resistant to nearly all forms of therapy. PVL of the oral cavity is best-defined as a continuum of oral epithelial disease with hyperkeratosis at one end of a clinical and microscopic spectrum and verrucous carcinoma or squamous cell carcinoma at the other. The microscopic findings associated with PVL are dependent on the stage of the disease and the adequacy of the biopsy. Microscopic findings can be markedly variable. PVL is a clinicopathologic disorder that includes the microscopic entity known as verrucous hyperplasia as a component of its histopathologic progression. This article reports on two cases of PVL, describes the clinicopathology of the disease process, and presents therapeutic and etiologic considerations. ( info) |
| 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. ( info) |
6/130. Gingival telangiectases: an underappreciated physical sign of juvenile dermatomyositis. BACKGROUND: medline searches (1966-June 1969) failed to identify references that give detailed descriptions of the oral manifestations of dermatomyositis (DM). However, several reports predating medline provided more complete descriptions of oral lesions associated with DM. OBSERVATIONS: We describe 5 cases of juvenile DM with oral manifestations, primarily in the form of gingival telangiectases. These findings are compared with those descriptions found in earlier reports. CONCLUSIONS: Oral lesions in juvenile DM have rarely been reported. mucous membrane involvement associated with DM may include telangiectases, edema, erosions, ulcers, and leukoplakia-like areas. In cases of DM, gingival telangiectases likely represent an underappreciated diagnostic finding analogous to nail-fold telangiectases. ( info) |
7/130. psoriasis of the attached gingiva. Case report. psoriasis of the gingiva is a rarely diagnosed disease entity. A case is presented with both clinical and histologic documentation that fulfills all basic criteria. It is suggested that oral psoriasis does not contraindicate periodontal or prosthetic management. ( info) |
8/130. Cowden's syndrome (multiple hamartoma and neoplasia syndrome): diagnostic dilemmas in three cases. Cowden's syndrome is a multisystem disease inherited as an autosomal dominant trait with incomplete penetrance and variable expression. The disease has typical oral manifestations which often precede more systemic involvement, and the dental professional is therefore well placed to institute a regime of regular checks to ensure early treatment of any neoplasms which may occur. However, since not all of the classical signs are present in all patients, diagnosis may be difficult. The case report of a patient with most of the features of Cowden's syndrome is presented and features compared with two other possible cases. ( info) |
| A 42-year-old man presented with painful toenails which were overcurved transversely and onycholytic. Examination revealed that all toenails, the thumbs and index fingers were similarly affected. In addition, he had a small area of leukokeratosis in the mouth, epidermal cysts of the scrotal skin and a small area of hyperkeratosis on the ulnar borders of his hands. His characteristic nail changes began in the great toenails at the age of 20 years. After renal transplantation at age 39, the other nails changed and he developed the features described above. His sister has overcurvature of the fifth toenails. A diagnosis of pachyonychia congenita tarda was made. His case is compared with 14 other reported cases of this rare syndrome. ( info) |
| dyskeratosis congenita is a rare multisystem condition involving mainly the ectoderm. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. The case of a 14-year-old girl is described who presented with several of the characteristic systemic features of this condition, together with the following oral features: hypodontia, diminutive maxillary lateral incisors, delayed dental eruption, crowding in the maxillary premolar region, short roots, poor oral hygiene, gingival inflammation and bleeding, alveolar bone loss, caries and a smooth atrophic tongue with leukoplakia. Although this condition is rare, dental surgeons should be aware of the dental abnormalities that exist and the risk of malignant transformation within the areas of leukoplakia. ( info) |