Surgical treatment and management of cutaneous squamous cell carcinoma in patients with dystrophic epidermolysis bullosa - a case report.

Epidermolysis bullosa (EB) is a rare inherited disease which is characterized by blisters on the skin and mucous membranes. Some forms of EB are associated with a risk of squamous cell carcinoma (SCC) development, which, unlike in the general population, is formed at a young age. SCC is the most common cause of death in patients with a dystrophic form. It is necessary to examine chronic and non-healing wounds for an increased risk of SCC. The basic treatment consists of surgical excision of the tumor site with a wide margin into healthy tissue. The surgical wound can be healed by secondary intention to prevent further trauma of the patient. The radicality of the excision is influenced by the location of the tumor. On the body, it is considerably limited by the surrounding tissue; on the limb, it is necessary to consider its amputation. In case of dissemination of the disease, it is important to approach patients individually and discuss other treatment options, including palliative care, within the national EB Center. The therapy is focused on pain treatment, remedial surgical dressings and psychological support with an emphasis on maintaining the quality of life.

[Eye manifestation of extrarenal malignant rhabdoid tumour]. / Ocní manifestace extrarenálního maligního rhabdoidního tumoru.

Extrarenal malignant rhabdoid tumour (EMRT) is very rare and aggresive childhood neoplasm with a rapid progression. The prognosis is still very poor with 80 % mortality rate. We report a case of a newborn baby with extrarenal malignant rhabdoid tumour of an upper eyelid. An EMRT was diagnosed based on the histological examination. This case report highlights the clinical presentation, radiological features and difficulty in diagnosis. The purpose is to underline the importance of its inclusion in the differential diagnosis of any aggresive lesion in a child. Key words: malignant rhabdoid tumour, childhood, diagnostic process.

[Successful treatment of angiomatosis with thalidomide and interferon alpha. A description of five cases and overview of treatment of angiomatosis and proliferating hemangiomas]. / Uspesná lécba angiomatózy thalidomidem a interferonem alpha. Popis peti pripadu a prehled lécby angiomatózy a proliferujícich hemangiomu.

Our paper describes 5 patients with a vascular malformation - angiomatosis. In the first patient, a young man, angiomatosis affected the stomach, intestine, the area of mesenterium and retroperitoneum as well as mediastinum. Angiomatous mass had invaded pelvic bones and vertebrae. Treatment was initiated with interferon alpha in a maximum tolerated dose of 3 million units 3 times a week. Because of low efficacy of interferon alpha, thalidomide was added at a dose of 100 mg per day. Bone pain disappeared following a few applications of zoledronate administered in regular monthly intervals. After 3 years of concomitant administration of interferon alpha and thalidomide, we changed the regimen due to adverse effects and are administering thalidomide and interferon alternatively in 4-monthly intervals. Treatment has resulted in 50% reduction, according to imaging, of angiomatous mass, reduced intensity of disseminated intravascular coagulation and disappearance of clinical signs. The second was a case of multiple angiomatosis affecting the intestine only (multiple intestinal angiodysplasias) where we used thalidomide monotherapy. This treatment reduced blood losses and haemoglobin concentrations rose to normal levels. This male patient had consumed 120 transfusion units per year before the initiation of thalidomide. The third case was a slowly progressing vascular malformation of the face. This vascular malformation troubled its sufferer by spontaneous shortening that could not be resolved surgically because of its fragility. Two years of combined treatment with interferon a 6 million unites 3 times a week and thalidomide 100 mg daily led to a reduction and flattening of the malformation, paling of its colour and ceasing of spontaneous bleeding. This development enabled minor surgery--partial excision of this large vascular malformation. Histology examination confirmed that there was no evidence of new capillary formation. Histological examination thus confirmed efficacy of the treatment. The fourth case involved a patient with large vascular malformations affecting supraclavicular region of the neck and nape in whom radiotherapy was applied (54 Gy) leading to a reduction of the malformation mass by a at least 50%. The fifth is a case of an extensive periorbital lymphangioma that diminished following treatment with interferon alpha. These cases illustrate the benefits of combined treatment including thalidomide and interferon alpha in patients with multiple angiomatosis or large proliferating hemangioma (vascular malformation). If combined treatment with thalidomide and interferon a is not possible, it is beneficial to use thalidomide monotherapy. Radiotherapy is another alternative, although it is necessary to apply doses exceeding 50 Gy which may not be always possible.

The transplantation of neural stem cells and predictive factors in hematopoietic recovery in irradiated mice.

A number of surprising observations have shown that stem cells, in suitable conditions, have the ability to produce a whole spectrum of cell types, regardless, whether these tissues are derived from the same germ layer or not. This phenomenon is called stem cell plasticity, which means that tissue-specific stem cells are mutually interchangeable. In our experiments, as a model, we used neural stem cells (NSCs) harvested from fetal (E14-15) neocortex and beta-galactosidase positive. In the first experiment we found that on days 12 and 30 after sub-lethal irradiation (LD 8.5 Gy) and (beta-galactosidase(+)) NSCs transplantation all mice survived, just as the group with bone marrow transplantation. Moreover, the bone marrow of mice transplanted NSCs contained the number of CFU-GM colonies with beta-galactosidase(+) cells which was as much as 50% higher. These differences were statistically significant, p<0.001. In the second experiment, we studied kinetics of (beta-galactosidase(+)) NSCs after their transplantation to sub-lethally irradiated mice. Histochemistry of tissues was performed on days 12 and 30 post-transplantation, and beta-galactosidase(+) cells were detected with the help of histochemical examination of removed tissues (lung, liver, spleen, thymus, and skeletal muscle). In tissues removed on day 12 post-transplantation, we found a significantly higher number of beta-galactosidase(+) cells in the spleen and thymus on day 30. While we presumed the presence beta-galactosidase(+) cells in the spleen, as spleen and reticuloendothelial system represent an important retaining system for different cell types, the presence of beta-galactosidase(+) cells in the thymus was rather surprising but very interesting. This indicates a certain mutual and close interconnection of transplanted stem cells and immune system in an adult organism. In the third experiment, we verified the mutual interchange of Sca-1 surface antigen in the bone marrow cells and NSCs before transplantation. Analysis of this antigen showed 24.8% Sca-1 positive cells among the bone marrow cells, while NSCs were Sca-1 negative. Our experiments show that NSCs share hemopoietic identity and may significantly influence the recovery of damaged hematopoiesis but do not have typical superficial markers as HSCs. This result is important for the determination of predictive factors for hemopoiesis recovery, for stem cell plasticity and for their use in the cell therapy.

Cleft palate repair by Furlow double-reversing Z-plasty: first speech results at the age of 6 years.

The authors evaluated the first 15 six-year-old children operated on for cleft palate using double-reversing Z-plasty. Examination by a surgeon did not reveal a higher morbidity as a results of the new surgical method. Examination by a phoniatrist provided evidence of marked improvement of speech functions as compared with the previous von Langenbeck method. The results are preliminary, based on a small group of patients.