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Maria Cisło

Publications and source records attributed to Maria Cisło.

8 recordsLinked to original sources
PubMed2006

A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis.

Recently we described an association between psoriasis and KIR2DS1, a gene for a stimulatory natural killer cell receptor, in a Polish population. The association was independently reported among Japanese and confirmed in a U.S. population. Prompted by these findings, we reanalyzed data by a multivariate approach in search of possible effects of KIR genes other than KIR2DS1 (non-KIR2DS1). The methodology was based on a stratified analysis and multiple logistic regression. We found that the non-KIR2DS1 genes had joint effects comparable to or stronger than the effects of KIR2DS1 in both the fraction of explained variance (0.174 vs 0.204, respectively, for KIR2DS1 and non-KIR2DS1) and the statistical significance (p = 0.000008 vs p = 0.000001, respectively). When individual genes were considered, a decrease in KIR2DS5 among patients vs controls (OR = 0.2, pcor = 0.0005) and a decrease in KIR2DS3 restricted to KIR2DS1-positive individuals (OR = 0.2, pcor = 0.005) were evident. We also performed a multivariate analysis of the HLA-Cw genotypes but failed to demonstrate any effects in addition to the known association with HLA-Cw*06. We conclude that the effect of the KIR genes on psoriasis susceptibility is complex, extending beyond the association with KIR2DS1 and involving protective effects and interactions.

Gene Frequency↗
PubMed2006

Psoriasiform lupus vulgaris with 30 years duration.

Lupus vulgaris is a progressive form of cutaneous tuberculosis occurring in a person with a moderate to high degree of immunity. It is the most common type of cutaneous tuberculosis. Lupus vulgaris can be mimicked by several other skin conditions, and a 69-y-old female is described with an extremely long history of extensive infiltrative skin lesions with abundant scaling. The lesions were localized on the right arm and forearm, and on the right lateral surface of the chest. The diascopic test was positive. Moreover, a large atrophic scar was seen in the region of right cubital fossa resulting in contracture of the right elbow joint. The histopathology strongly suggested the diagnosis of tuberculosis. The final diagnosis of tuberculosis was confirmed by PCR examination. A polychemotherapeutic regimen (ethambutol 1250 mg/d, rifampicin 600 mg/d and isoniazid 300 mg/d) was successfully employed for the treatment of skin lesions.

Aged↗
PubMed2004

Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris.

Psoriasis vulgaris, particularly its juvenile form, is strongly associated with the HLA-Cw*06 allele encoding the HLA-Cw6 molecule. This molecule is recognized by the inhibitory receptor KIR2DL1 and the activatory receptor KIR2DS1, which are expressed on natural killer cells and subpopulations of T lymphocytes. Humans differ by the presence or absence of particular KIR genes. We hypothesized that either activatory KIR2DS1 or inhibitory KIR2DL1 gene frequencies might be different in psoriatic patients from a control population. Therefore, we compared the frequencies of KIR2D inhibitory (L) and activatory (S) genes in 116 psoriasis vulgaris patients and in 123 healthy controls. Fourteen novel gene combinations were found. KIR2DS1 was present in 85% of the patients, but only in 51% of the controls (corrected p [pc] < 0.0009). Similarly, HLA-Cw*06 was much more frequent in patients (77%) than in controls (17%; pc < 0.00002). Statistical analysis suggests that, although the contribution of these two factors to psoriasis is partially independent, they interact nevertheless. This result strongly speaks for a role of KIR2DS1 on recognition of HLA-Cw6 in susceptibility to psoriasis.

Adult↗
PubMed2004

[Darier disease type 1].

Darier disease (follicular dyskeratosis) is a rare genodermatosis determined by an autosomal dominant gene with variable penetration, characterized by a symmetrical eruption of hyperkeratotic papules with predilection to the seborrheic areas of the body. Unilateral, focal form is the one of the rare type of the Darier disease. Two clinical and genetical phenotypes of the segmental Darier disease have been recently reported: type 1--in which the skin outside of the localized manifestation is normal and type 2--showing a segmental affection in combination with diffuse skin involvement. The patient with type 1 segmental Darier disease is presented because of rare occurrence, diagnostic and therapeutic difficulties as well. The first keratotic papules on the left side of his trunk appeared at the age 14. The correct diagnosis based on clinical and histological picture has been established 38 years latter.

Darier Disease↗
PubMed2003

Familial cutaneous and uterine leiomyomas: case report.

Cutaneous leiomyomas are rare, benign tumors arising from the arrectores pilorum muscles of the skin, the tunica dartos of the scrotum, muscles of the areola of the nipple, and vulvar or vascular smooth muscles. Multiple cutaneous leiomyomas originate from the arrectores pilorum muscles of the skin (piloleiomyomata cutis). Occasionally, they seem hereditary and may be associated with uterine myomas. We present a family in which the mother and 4 of her 6 daughters had uterine myomas. All sisters had to undergo hysterectomy before the age of 40, and three of them had multiple cutaneous leiomyomas simultaneously. Our observations support the suggestion that this kind of leiomyomas is a disorder with autosomal dominant inheritance with incomplete gene penetration. Moreover, the data indicate the necessity of periodical examinations to rule out the presence of uterine myomas not only in cutaneous leiomyoma patients, but also in other women in a given family.

Female↗
PubMed2002

Allelic distribution of complement components BF, C4A, C4B, and C3 in Psoriasis vulgaris.

Psoriasis vulgaris is a multifactorial disease; the strongest association was established with the HLA complex. The actual disease-predisposing gene(s) has not been identified yet, but several genes from this region were examined in addition to HLA-C and -B. However, HLA-linked complement component polymorphic genes were not extensively studied. Therefore, we typed 67 psoriatic patients for alleles of the HLA-linked complement components BF, C4A and C4B. Alleles of C3, encoded on another chromosome, were established in parallel as a negative control. Frequencies in patients were compared with those in unrelated healthy controls, 100 individuals for C4A and C4B, 890 for BF and 4719 for C3 We found no association of BF alleles with disease, similarly to C3. Among C4 alleles, C4B*3 was present in 13.4% of patients as compared with 1% of controls (OR, 15.36; 95% CI, 1.897-124.42; P=0.0009), and C4A*6 was present in 19.4% of patients versus 7% of controls (OR, 3.20; 95% CI, 1.202-8.508; P=0.0155). The high frequency of C4B*3 in psoriatics has not been described so far. These results suggest a contribution of C4 genes themselves or a closely linked gene to the susceptibility to psoriasis.

Adolescent↗
PubMed2002

[Skin changes during the course of selected endocrinologic diseases in children and adolescents].

The authors presented skin lesions which may be observed in selected endocrinopathies in children and adolescents. Functional disturbances of endocrine glands in which skin lesions may develop are dysfunction of the adrenals, gonads in case of children, thyroid diseases and diabetes type 1. The authors presented also a detailed description of skin symptoms observed in hyperthyrosis and hypothyrosis. They emphasised that the most common form of hyperthyrosis in children and adolescents is Graves disease. Also broadly dermatological lesions which may develop in diabetes type 1 they described.

Adolescent↗