Aleksandra Basta-Juzbašić

Oxidative stress and ferritin expression in the skin of patients with rosacea

BACKGROUND Rosacea is a common chronic light-sensitive inflammatory skin disease of unknown origin. The purpose of this work was to determine the parameters of oxidative stress, antioxidative capacity, and the pathophysiologic role of ferritin expression in skin cells of patients with rosacea. OBJECTIVES The investigation consisted of measurements of serum peroxide levels, serum total antioxidative potential levels, and immunohistochemical analyses of ferritin in skin tissue samples. RESULTS Serum peroxide levels were significantly higher and serum total antioxidative potential levels were significantly lower in patients with rosacea than in healthy control subjects (P < .05). Compared with control subjects, the number of ferritin-positive cells was significantly higher (P < .001) in skin samples from patients with rosacea, especially those with severe disease. LIMITATIONS Patients with rosacea in the study were aged 30 to 70 years (average age was 56 years). Younger patients with flushing only were not included according to the request of the ethics committee, limiting the use of diagnostic biopsies only to the necessary cases. CONCLUSION The statistically significant differences in the expression of ferritin, higher peroxide levels, and lower antioxidative potential support the onset of systemic oxidative stress in patients with rosacea.

The role of Malassezia furfur in dermatology

Yeasts of the genus Malassezia have been recognized as members of the microbiologic flora of the skin for over a century. Under certain conditions, they can cause superficial infection of the skin and associated structures, and they can become an opportunistic pathogen in patients with catheters.

Mal de Meleda: Genetic Haplotype Analysis and Clinicopathological Findings in Cases Originating from the Island of Mljet (Meleda), Croatia

Background: Mal de Meleda (keratoderma palmoplantaris transgrediens) is an autosomal recessive disorder, first described on the island of Mljet (Meleda), Croatia. The candidate region for the gene responsible for this disorder was found on the chromosome 8qter, and the responsible mutations have recently been identified in 12 Algerian and 7 Croatian families. Objectives: To fully characterize all 12 living cases originating from the original setting of the disease, the island of Mljet, in the light of new findings and using modern diagnostic technology. Patients and Methods: Twelve patients and 37 family members were identified over the period 1998–1999, interviewed and examined. Results: The reconstruction of 8 genealogies suggests a common ancestry of all cases but one. The clinical presentation and pathologic findings of these cases are described in detail and are consistent with previous reports. Symptoms and signs were found to be milder in non-manual workers who had applied continuous symptomatic treatment. Blood samples were taken from 8 cases and 16 close relatives for genetic studies. These confirmed a shared haplotype in all cases, but in none of 17 unaffected control individuals, near the marker D8S1751 on chromosome 8. Conclusions: This review characterizes mal de Meleda in its original setting and shows that the sporadic cases found in the regions of medieval trade routes of the Republic of Dubrovnik (Middle East and Northern Africa) carry the same mutation as the patients from Mljet Island, Croatia.

Hereditary palmoplantar keratoderma, type papulosa, in Croatia

BACKGROUND Hereditary palmoplantar keratoderma (HPPK), type papulosa, is rare, and epidemiologic data are sporadic and inconsistent. An epidemiologic population study of this disease has not been performed previously. OBJECTIVE We performed a large population study on prevalence of HPPK, type papulosa, in Croatia. METHODS The data were collected from medical records of dermatology departments throughout Croatia; 14 patients and their relatives were examined. Histopathologic studies were performed in 11 of these 14 patients. RESULTS Fifty-five patients were identified and the prevalence was 1.17 per 100,000 inhabitants. All 55 patients belonged to 20 different families. An autosomal dominant mode of inheritance was confirmed in 13 families. All 14 patients examined by the authors had both palmar and plantar lesions; the volar aspects of fingers were also involved. Thickened nails were observed in four patients, and no significant skin lesions were found elsewhere. CONCLUSION HPPK, type papulosa, is rare, and its prevalence in Croatia is about four times lower than HPPK, Unna-Thost type. It should be considered a distinct entity.

Coexistence of pemphigus herpetiformis and systemic lupus erythematosus.

A female patient with coexistence of pemphigus herpetiformis and systemic lupus erythematosus is described. She presented to our Department with pruritic vesicles on her trunk and extremities, which were later accompanied with butterfly like erythema on her face and with central nervous system (CNS) manifestations. The diagnosis of pemphigus herpetiformis was based on the clinical picture and immunofluorescence finding, because the histopathologic finding is not always typical for the diagnosis. The diagnosis of systemic lupus erythematosus was based on positive ANA and anti‐dsDNA, presence of butterfly‐like erythema on her face, and CNS manifestations. The patient was treated by corticosteroids in combination with immunosuppressants, which should ensure good control of both diseases. The coexistence of pemphigus herpetiformis and systemic lupus erythematosus has not been reported in recent literature.

Treatment of cutaneous leishmaniasis with 20% paromomycin ointment.

Cutaneous leishmaniasis is an infectious disease caused by flagellate protozoa of the genus Leishmania. In Mediterranean countries, the most common causative agents are Leishmania (L.) major, L. infantum and L. tropica. In Croatia, cutaneous leishmaniasis is a rare disease, the last case being reported in 1988. Our patient was a 5‐year‐old boy with a left cheek skin lesion in the form of papule with central exulceration, hyperkeratotic crust and erythema of a 6‐month duration. The diagnosis of cutaneous leishmaniasis was based on history data (stay in the southernmost region of Croatia and multiple mosquito bites), light microscopic histology (dense infiltrates of large histiocytes with extracellular bodies), and positive Montenegro (leishmanin) test. A new therapy with aminosidine (paromomycin), an aminoglycoside antibiotic, in the form of ointment at a concentration of 20%, was for the first time used in Croatia. Four‐week therapy resulted in complete regression of the skin lesions with residual hyperpigmentation. During therapy, no local or systemic side effects were observed. Thus, topical therapy with paromomycin could be considered an efficient therapeutic alternative in the management of cutaneous leishmaniasis.

Gorlin Syndrome Patient with Large Deletion in 9q22.32–q22.33 Detected by Quantitative Multiplex Fluorescent PCR

Background: Gorlin syndrome is a rare autosomal-dominant disorder characterized by a wide range of developmental abnormalities and various tumors. The syndrome is caused by mutations in PTCH1, a tumor suppressor gene located at 9q22.32. We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in PTCH1, but with a large deletion of the 9q22 region that has rarely been described. Objective: To fully characterize the large deletion in the patient. Methods: In order to map the size and position of the deletion, we developed quantitative multiplex fluorescent PCR with polymorphic markers surrounding the PTCH1 gene, followed by long-range PCR and sequencing. Results: The deleted segment of 4.5 Mb in the 9q22.32–q22.33 region was determined, and included the entire PTCH1, its promoter and 22 OMIM genes. Conclusion: We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.

Contact allergy to corticosteroids and Malassezia furfur in seborrhoeic dermatitis patients

Background  Seborrhoeic dermatitis (SD) is a chronic skin disease, requiring long‐term treatment, which might promote sensitization. Malassezia furfur (Mf) plays an important role in seborrhoeic dermatitis.

Variable expression of Gorlin syndrome may reflect complexity of the signalling pathway

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin syndrome is an autosomal dominant disorder characterized by cancer predisposition and multiple developmental defects. Syndrome related disorders have been attributed to alterations of PTCH gene, which plays an important role in Shh signalling pathway. Unresolved complexities of the pathway impede understanding of mechanisms through which PTCH alterations lead to variable phenotype expression in Gorlin syndrome patients, while the role of chromosomal instability is not yet clear. To increase our understanding of NBCCS, every manifestation of the syndrome and associated genetic damage should be seriously considered. Therefore, several atypical NBCCS cases are presented in this paper.

Leprosy in Croatia in the twentieth century

Even today, leprosy is a relatively frequently occurring disease, especially in tropical regions of the world. From the eleventh to thirteenth century, leprosy pandemics affected Europe, including Croatia. Probably as a consequence of such history, one can still find endemic foci of leprosy in present-day Croatia. The aim of this study was to analyse all cases of leprosy registered in Croatia during the twentieth century; therefore, we studied thoroughly existing medical documentation and published reports on sporadic leprosy cases, and went on to collect the relevant data through on-site investigation in those parts of Croatia known as putative endemic foci of leprosy. In this way, we collected data concerning the number of leprosy cases, the probable sources of infection, and traced the possible paths of spread of the disease. During the twentieth century, 17 cases of leprosy were registered in Croatia. However, due to the loss of medical documentation concerning the cases from Metković, the total number was obviously slightly greater. Concerning the 17 analysed cases, 4 patients were most probably infected during their visits (as sailors or immigrant workers) to the Middle East, South America or Africa; 3 patients developed leprosy after prolonged close contact with previously infected family members, while the exact source of infection remains unsettled for the remaining 10. However, 2 of these patients originated from the area of Cazin in Bosnia and Herzegovina, which is known to be an endemic focus of leprosy. Furthermore, the remaining 8 came from the small area of the village of Blizna in the Croatian municipality of Trogir, and therefore it seems reasonable to conclude that Blizna represents the endemic focus of leprosy in Croatia. The last case of leprosy in Blizna was registered back in 1956. Nevertheless, it is clear that sporadic cases of leprosy can reappear in Croatia, originating either from this endemic focus of Blizna, or as an infected person returning to Croatia from abroad. So, we can conclude that, even today, Croatian medical doctors (and especially dermatovenereologists) should still be acquainted with the clinical diagnosis of leprosy and basic principles of its treatment.