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.

Ekfors, T. O., Kulju, T., Aaltonen, M. & Kallajoki, M. Ossifying fibromyxoid tumour of soft parts: report of four cases including one mediastinal and one infantile. APMIS 106: 1124-1 130, 1998.Four cases of ossifying fibromyxoid tumour of soft parts are described. One of them was in the mediastinum, a hitherto unreported location of this rare neoplasm. Another was removed from the subcutaneous tissue of the head of a two-year-old girl, the youngest patient so far described. A peculiar feature of this tumour was haphazard spindle cell groups showing smooth muscle differentiation. One tumour was remarkably proliferative with 20 mitotic figures per 10 high power fields and 50% of cells positive for Ki-67 antigen. Immunohistochemical analysis revealed that all the tumows were diffusely positive for vimentin, and focally for S-100-protein. In addition to this the infantile tumour expressed focal a-smooth muscle actin, desmin and glial fibrillary acidic protein, while the mediastinal tumour expressed only a-smooth muscle actin and the highly proliferative one expressed none of these antigens. Background cells, including histiocytes, lymphocytes and mast cells were numerous. DNA cytometry analysis using both static and flow methods showed that the mediastinal tumour contained two cell clones, while the others were diploid. The proliferative fraction of cells (S plus G2 phases) was prominent in the proliferative and infantile tumours.

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.