Histological characteristics of basal cell carcinoma of the eyelid.

PURPOSE: To evaluate the histological subtypes of basal cell carcinoma (BCC) of the eyelid and to determine their effect on the size, depth of invasion and need of retreatment of a nonselected patient material seen in south-western Finland. METHODS: We studied the case records and the histological characteristics of BCC of the eyelid treated at the Turku University Eye Clinic during the years 1988 through 1997. The material consisted 103 patients (103 BCC tumors of the eyelid). All tumors were surgically excised. Histological slides were reviewed by a pathologist and the material was divided into histopathological subtypes. RESULTS: In 78.3% of the cases, the diameter of the lesion was smaller than 10 mm. The most frequent histological subtype was nodular (84.5%) followed by sclerosing (5.8%), micronodular (4.9%), keratotic (2.9%) and superficial (1.9%) types of BCC of the eyelid. Only patients of the nodular subtype showed recurrences (11 cases). The size of the tumor and the depth of invasion correlated directly with each other. However, some nodular types of BCC tumors smaller than 10 mm in diameter extended to a depth of more than 4.0 mm. CONCLUSIONS: The nodular subtype of BCC should be regarded as a potentially invasive and recurrent tumor. Histopathological examination and subtyping of all BCC tumors is recommended.

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated ADULT syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the ADULT syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.