Frequency estimation of the gene alleles for genodermatoses in the population of Vojvodina.

Genodermatoses are hereditary skin disorders or anomalies. The authors had investigated the frequency of genes, species and clinical forms of hereditary dermatoses in Vojvodina including age and sex distribution. The experimental group was selected by random sampling of the diseased of genodermatosis and/or genetic diseases at the Clinic of Dermatology and Venereology and Institute for Children and Adolescents in Novi Sad. The experimental group included 152 cases, and that made simultaneously the experimental and positive control group in relation to the diseased population with genodermatoses and/or genetic diseases in Vojvodina. In the investigation we applied the following methods: family history taking including genealogy; dermatoglyphic examination; screening tests in medical genetics; cytogenetic analysis of patient's karyotype; histopathological analysis of the material obtained by skin biopsy; dermatovenereological, genetic and dysmorphologic examination of skin diseases by analysis of dysmorphologic signs on the skin using a special computer program--POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations). Application of non-parametric statistics and Log-linear analysis, revealed that there is no statistically significant difference between the experimental group and the group with genetic diseases in population of Vojvodina. The obtained incidence of genodermatoses and/or genetic diseases was computed by "Hardy-Weinberg's principle". These methods of genetic population investigations give possibilities for valid incidence estimation of the diseases and frequency of the gen allele's for genodermatoses and/or genetic disorders and syndromes in defined population. Our results of investigation of the incidence genodermatoses in our's population showed significantly increased values in relation to literature data for the same hereditary disorders.

Differential expression of desmosomal glycoproteins in keratoacanthoma and squamous cell carcinoma of the skin: an immunohistochemical aid to diagnosis.

The distinction between keratoacanthoma and squamous cell carcinoma is a common dermatopathological dilemma. Although the mainstay of the diagnosis is still clinico-pathological correlation, many dermatopathologists now include keratoacanthomas in the spectrum of squamous cell carcinomas. Recent reports, however, have pointed out that keratoacanthoma is "deficient squamous cell carcinoma" since it loses the expression of bcl-2 antigen, consistent with initiation of apoptosis, i.e. its involution. Electron microscope studies performed in keratoacanthomas and squamous cell carcinomas also revealed significantly reduced desmosomes in squamous cell carcinoma, but not in keratoacanthoma. A series of 38 keratoacanthomas and 62 squamous cell carcinomas of the skin (28 well-differentiated, 21 moderately differentiated and 13 poorly differentiated) were stained immunohistochemically with the monoclonal antibody 32-2B to desmosomal glycoproteins desmoglein 1 and desmoglein 3. Thirty-five keratoacanthomas showed extensive pericellular desmoglein expression. Three keratoacanthomas and 20 squamous cell carcinomas (19 well-differentiated, 1 moderately differentiated) showed focal staining, and in 11 squamous cell carcinomas (2 moderately differentiated, 9 poorly differentiated) the staining was negative. The remaining 31 squamous cell carcinomas (9 well differentiated, 18 moderately differentiated, 4 poorly differentiated) showed juxtanuclear staining. None of the squamous cell carcinomas exhibited the extensive pericellular pattern found in keratoacanthomas. Assessment of staining intensity, by 3 independent examiners, revealed a strong negative correlation between desmoglein expression and degree of dysplasia in the squamous cell carcinomas (p < 0.01). This antibody therefore clearly distinguishes these tumours and may be of value in the differential diagnosis of keratoacanthoma and squamous cell carcinomas in routine histopathology.