Acrokeratoelastoidosis treated with the erbium:YAG laser.

Acrokeratoelastoidosis is a rare skin disorder characterized by grouped, small, firm, translucent papules distributed on the margins of the hands and feet. We report a 21-year-old white patient with acrokeratoelastoidosis in whom Er:YAG laser surgery was carried out, resulting in a slight post-treatment improvement of the disease with slight flattening of the lesions. No clinical recurrence of the lesions developed during the 6 months of follow-up. We suggest that Er:YAG laser surgery of acrokeratoelastoidosis may be considered as a treatment option for this rare disease; however, patients should be informed of the limited clinical improvement obtained with this treatment.

Oral fludarabine treatment of cutaneous infiltration in a patient with B-cell chronic lymphocytic leukaemia.

In B-cell chronic lymphocytic leukaemia (B-CLL), cutaneous infiltration is far less common than in T-cell CLL. However, the effect of fludarabine on cutaneous infiltration in patients with B-CLL is uncertain. We describe a 63-year-old man with B-CLL presenting with cutaneous lesions, who was treated successfully with oral fludarabine. Skin biopsy of one of these lesions revealed diffuse infiltration of uniform lymphocytes. Using PCR analysis, the same immunoglobulin heavy-chain gene rearrangement was found in lymphocytes in all samples (peripheral blood, bone marrow and skin lesion). The patient received four courses of oral fludarabine. Simultaneously with the normalization of the peripheral blood lymphocytosis, the patient became free of the cutaneous infiltration of CLL after four courses of oral fludarabine. Skin lesions had not recurred by the 12-month follow-up examination. To our knowledge, this is the first case of B-CLL leukaemia cutis treated with oral fludarabine. The introduction of fludarabine may contribute to a better outlook for these patients in the future.

Huge differences in cellular radiosensitivity due to only very small variations in double-strand break repair capacity.

The DNA double-strand break (DSB) repair capacity of normal human fibroblasts was compared with that of cell lines with different genetic alterations. These cell lines are affected either in non-homologous end-joining (180BR), homology directed repair (C2352, C2395), base excision repair (CS1TAN, 46BR) or signalling (AT3, AT2BE, LFS2675, LFS2800, 95P558). Cellular radiosensitivity was determined by colony formation assay, DSB by constant-field gel electrophoresis and apoptosis was detected by caspase3 activity. For the mutated cell lines, the survival fraction at 2 Gy (SF2) varied between 0.013 and 0.49 in contrast to a variation of only 0.15-0.53 for normal fibroblasts. There was no variation in the number of initial DSB and only a small variation in the number of DSB remaining 24 h after irradiation. At 100 Gy, the latter number varied between 2 and 5 Gy-equivalents for normal fibroblasts and only between 3 and 7 Gy-equivalents for the mutated cell lines, corresponding to repair capacities of 95-98 and 93-97%, respectively. There were, however, two outliers (LFS2800, 180BR) where the number of remaining DSB was much higher with 22 and 30 Gy-equivalents, respectively. This elevated number resulted from a delayed repair and apoptotic cells. For all but these two cell lines, the relationship between the number of DSB remaining 24 h after irradiation and SF2 could be described by an identical correlation (r2 = 0.86, p < 0.0001). This result indicates that the relationship between DSB repair capacity and cellular radiosensitivity appears to be the same for normal and mutated cell lines, and that in both cases huge differences in cellular radiosensitivity result from only a very small variation in DSB repair capacity.

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations, 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies of 35delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.

Interferon-gamma in alopecia areata.

Alopecia areata is a common type of hair loss. In clinical practice most patients will present with reversible patchy hair loss whereas others may develop complete baldness. Although the etiopathogenesis of alopecia areata is poorly understood, evidence is accumulating that it can be regarded as a T-cell mediated tissue-restricted autoimmune disease of the hair follicle, especially expressing the T-helper-type 1 cytokines interleukin-1beta, interleukin-2, and interferon-gamma. The aim of the study was to compare the serum levels of interferon-gamma in patients with alopecia areata and the control group and also to investigate the difference between the localized form of the disease with the extensive forms like alopecia totalis (AT) and alopecia universalis (AU). Forty patients with alopecia areata and 20 healthy controls were enrolled in the study. Nineteen patients had localized AA (LAA) and twenty-one patients had AT, AU or AT/AU. The serum levels of interferon-y were measured using enzyme immunoassay techniques. The mean serum IFN-gamma level in AA patients (n = 40) was 14.25 +/- 8.76 pg/mL (mean +/- SD), whereas that of LAA (n = 19) or extensive (AT, AU or AT/AU) (n = 21) was 13.45 +/- 6.75 pg/mL or 14.98 +/- 10.37 pg/mL, respectively. The mean serum IFN-gamma level in controls was 9.95 +/- 2.6 pg/mL. Serum levels of IFN-gamma in patients with AA were significantly higher than those in controls (p < 0.05). Significant difference was observed in serum levels of IFN-y between patients with LAA and control group (p < 0.05). Serum levels of IFN-gamma in patients with AT, AU or AT/AU were significantly higher than those in controls (p < 0.05). There was no significant difference in levels of IFN-gamma between patients with LAA and extensive group (p > 0. 05). We conclude that the elevated serum levels of IFN-gamma may reflect the inflammatory symptoms in AA, especially in the extensive form and that control of IFN-gamma production may be important to management of this disease. And also the measurement of serum IFN-gamma in patients with AA may be useful in discriminating those likely to progress to AU from the remaining LAA, or as a prognostic indicator.

Follicular mucinosis responding to isotretinoin treatment.

Follicular mucinosis is a rare disorder of unknown etiology characterized by accumulation of mucin in the sebaceous glands and outer root sheaths of the hair follicles. It is divided into a primary benign type and a secondary type mostly associated with lymphomas. No effective standard therapy for follicular mucinosis is available. We describe the case of a 21-year-old Caucasian male who had papules, nodules, and erythematous plaques on his left shoulder, left arm, and right scapular region. He was diagnosed as primary benign generalized follicular mucinosis, and treated with isotretinoin. Almost complete remission was achieved in 4 months.

Comparison of a single 400 mg dose versus a 7-day 200 mg daily dose of itraconazole in the treatment of tinea versicolor.

BACKGROUND: Tinea (pityriasis) versicolor is a superficial infection of the stratum corneum by the lipophilic fungus known as Malassezia furfur. OBJECTIVE: To evaluate the efficacy and safety of a 400 mg single dose or 7-day 200 mg daily dose of itraconazole capsules in the treatment of mycologically confirmed pityriasis versicolor. METHODS: A total of 50 patients were entered into a randomized, open, clinical trial comparing a 400 mg single dose (n = 24 for group 1) with a 7-day 200 mg daily dose (n = 26 for group 2) of itraconazole. Clinical signs and symptoms and mycologic evaluation (potassium hydroxide preparation and Wood's lamp) were performed before treatment, and at weeks 3 and 6 after treatment. RESULTS: Both regimens of itraconazole were effective. Our results showed that there were no significant differences in efficacy and safety between the two treatment regimens (chi-square tests, p > 0.05). CONCLUSIONS: On the basis of these findings, a single dose of itraconazole 400 mg/day was as effective as the 7-day 200 mg daily dose in the treatment of pityriasis versicolor.

An open, randomized, comparative study of oral fluconazole, itraconazole and terbinafine therapy in onychomycosis.

BACKGROUND/AIM: In this open, randomized and comparative study, the safety and efficacy of systemic fluconazole, itraconazole and terbinafine was investigated in 50 patients with distal subungual toenail onychomycosis diagnosed clinically and mycologically. The patients with positive mycology and also the patients with positive microscopy and negative culture were investigated. METHODS: The treatment duration was 3 months, and the follow-up period was 6 months. Patients were randomly assigned: 16 patients received 150 mg fluconazole once weekly, 18 patients received 200 mg itraconazole twice daily with meals during the first week of each month, and 16 patients received 250 mg/day terbinafine during the treatment period. RESULTS: In a clinical evaluation, at the endpoint of the follow-up period, the clinical cure rates were 81.3% (13/16) in the terbinafine group, 77.8% (14/18) in the itraconazole group, and 37.5% (6/16) in the fluconazole group. The mycological cure rates were 75% (12/16), 61.1% (11/18) and 31.2% (5/16), respectively. The overall assessment rates were 62.5% (10/16), 61.1% (11/18) and 31.2% (5/16), respectively. Statistically significant intra-group reductions from baseline symptom severity values were seen at the endpoint of treatment and at the endpoint of the follow-up period for all three treatment groups in onycholysis, subungual hyperkeratosis, affected-area percentage score and total score parameters (p < 0.001). At the endpoint of the follow-up period, statistically significant differences between the treatment groups were seen in clinical, mycological and overall assessment (p < 0.05). However, while no statistically significant difference between the terbinafine and itraconazole groups was seen, there was a clinical and statistical difference between the other groups and the fluconazole group. Treatment was not stopped for side effects such as mild gastrointestinal and central nervous system symptoms. These effects were noted in four patients in the fluconazole group (25%), five patients in the itraconazole group (27.8%), and three patients in the terbinafine group (18.75%). The clinical laboratory data on all three drug groups did not show any statistically or clinically significant intra-group changes from baseline values at the endpoint (p > 0.05). CONCLUSION: This comparative study of systemic fluconazole, itraconazole and terbinafine showed that all three drugs were effective and safe in the treatment of onychomycosis. However, fluconazole, at these doses and treatment durations, was the least effective. With regard to cost-effectiveness, side effects and the cure rates, terbinafine could be the drug of choice in the short-term treatment of toenail onychomycosis.

Homozygous ß-Thalassemia Associated with Familial Mediterranean Fever in a Turkish Patient.

We report here a ß- thalassemia major case (homozygous IVS-1-110 G-A) associated with Familial Mediterranean Fever (FMF) (homozygous 694 Met-Val). Our patient's clinical course revealed a possible synergistic effect between colchicine and desferrioxamine (DFO) However, this could be a only a coincidence, as under colchicine therapy, fever attacks may appear, this may be the topic of a further investigation.

Efficacy and safety assessment of 0.5% and 1% colchicine cream in the treatment of actinic keratoses.

BACKGROUND: Topical colchicine has been reported to be an effective treatment for actinic keratoses, but the optimal concentration has not been fully defined. OBJECTIVE: The aim of this study was to further support the beneficial effect of topical colchicine therapy for actinic keratoses, and to compare the efficacy and safety of two different concentrations of colchicine cream, 0.5% and 1%. METHODS: Sixteen patients with actinic keratoses were enrolled in this comparative randomized study. Eight patients applied 1% colchicine cream, twice daily on their lesions while the other eight were treated with a 0.5% colchicine cream for 10 days. Some patients were applied a second course of 10 days' therapy. Patients were examined before treatment and at 10 days, and followed up at 1, 2 and 6 months of treatment. Visible and palpable actinic keratoses lesions in each group were counted. Safety and efficacy were also assessed by clinical examination at each study visit. Routine laboratory tests were performed before and after treatment. RESULTS: Actinic keratoses lesions showed significant clinical improvement following treatment with 0.5% and 1% colchicine cream. Complete healing of actinic keratoses were observed in six of the eight patients in the 1% colchicine group, and in seven of the eight patients in the 0.5% colchicine group. The reduction rate in number of actinic keratoses at the end of treatment in the 1% colchicine group was 73.9% (48/65) (p < 0.001), and the reduction rate in the 0.5% colchicine group was 77.7% (52/67) in total (p < 0.001). The reduction in number of actinic keratoses (mean +/- SD) at the end of treatment was similar in the 1% colchicine group (0.7 +/- 1.3), and the 0.5% colchicine group (mean 0.6 +/- 1.7) (p > 0.05). Systemic side effects were not seen in either concentration. CONCLUSIONS: Topical colchicine is an effective and safe alternative agent. Cream containing 0.5% of colchicine is equally effective as 1% colchicine cream in the treatment of actinic keratoses.

Focal epithelial hyperplasia treated with interferon alpha-2a.

BACKGROUND: Focal epithelial hyperplasia (FEH) is an uncommon benign oral condition that occurs mainly in young individuals of certain racial groups. METHODS: A 21-year-old Caucasian man presented with FEH of the oral mucosa. The patient was treated with interferon alpha-2a three times a week for 14 weeks intramuscularly (a total of 162 million units). RESULTS: At 2 months after the end of therapy, the papular lesions showed partial regression. CONCLUSION: This treatment modality should be used in cases with diffuse focal epithelial hyperplasia.

MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?

Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis. Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF.