Symmetrical peripheral gangrene and dopamine.

We describe a case of a 55-year-old man with hypovolemic shock who developed a symmetrical peripheral gangrene (SPG) on hands and feet. The SPG syndrome consists of sudden onset of symmetrical gangrene of the fingers, toes and rarely, the nose, upper lip, ear lobes or genitals without large vessel obstruction or vasculitis. Vasopressors have been implicated directly or as a contributory cause in many cases. In this case, dopamine was used with high dose (> 20 microg/kg/min) which is inappropriate in hypovolemic shock states. SPG might be a severe and rare complication of dopamine. Care should be taken with the use of dopamine in patients with shock.

A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.

Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.

Prognostic value of Ki-67, CD31 and epidermal growth factor receptor expression in basal cell carcinoma.

Recurrence of basal cell carcinoma following treatment is common, and the majority of recurrences appear in the first 3 years. We examined the original tumors of 26 basal cell carcinoma cases, 14 of whom had a recurrence after an average of 3.7 years, and 12 of whom had no recurrence during an average of 4.4 years follow-up. Using immunohistochemistry, we tested for Ki-67, CD31 and epidermal growth factor receptor expressions in the tumor tissue. The percentages of expression for Ki-67, CD31 and epidermal growth factor receptor were significantly higher in the recurrent tumors than in the non-recurrent ones. Expression of Ki-67 and CD31 was 271.57 +/- 17.91 and 58.1 +/- 9.37 for the recurrent group and 187.08 +/- 21.48 and 23.9 +/- 5.45 for non-recurrent group respectively (p<0.0001; p<0.0001). Expression of epidermal growth factor receptor was positive in all basal cell carcinoma cells. The staining intensity was strong in 57% of recurrent and 8.3% of non-recurrent tumors (p=0.014). These results show that Ki-67, CD31 and epidermal growth factor receptor expression differ between basal cell carcinomas which later recur and those that do not recur.

Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.

Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.

Amifostine-induced toxic epidermal necrolysis during radiotherapy: a case report.

Amifostine is a phosphorylated aminothiol prodrug that can selectively protect normal tissues against the toxic effects of chemotherapy and radiotherapy. In clinical use amifostine is well tolerated and may rarely cause allergic reactions. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are two closely related entities that present with severe acute mucocutaneous reactions most often triggered by drugs. There are only two case reports related to the use of amifostine during radiotherapy, one case with SJS and the other with SJS-TEN overlap. In this paper, a case with amifostine-induced TEN during radiotherapy is presented.

A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma.

Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severely disabling genetic disorder characterized by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. Patients with RDEB have an increased tendency for fast-growing and early metastasizing squamous cell carcinoma (SCC). We report here a 13-year-old girl with RDEB who developed a large SCC on the left knee. At 6 months of evolution it was resected and covered with an autologous skin graft. To our knowledge, this is the youngest patient with RDEB complicated by SCC to be reported, and therefore may serve to emphasize the importance of vigilance in surveying RDEB patients for SCC.

Netherton syndrome associated with idiopathic congenital hemihypertrophy.

Netherton syndrome is a rare genodermatosis comprised of anichthyosiform dermatitis, hair shaft defects, and atopic features. Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. We describe an 18-month-old girl with Netherton syndrome who had idiopathic congenital hemihypertrophy on her right side with contralateral benign nephromegaly in addition to the characteristic clinical signs of the syndrome. To our knowledge, this is the first case of Netherton syndrome associated with idiopathic congenital hemihypertrophy to be reported.

Treatment of arsenical keratosis and Bowen's disease with acitretin.

BACKGROUND: Long-term exposure to arsenic is associated with the development of arsenical keratosis, Bowen's disease, squamous cell carcinoma, and basal cell carcinoma. The efficacy of acitretin therapy was examined in two patients with cutaneous arsenical neoplasms. METHODS: Lipid profile, hematological and liver function tests were performed regularly during the therapy at monthly intervals. RESULTS: After the third month of treatment, improvement of lesions of arsenical keratosis and Bowen's disease were observed in both patients. For the first patient who received 1 mg/kg daily acitretin for 10 months nearly total clearing was obtained at the end of therapy. The second patient discontinued the treatment after a period of 5 months because of symptomatic side-effects. During therapy no new lesions and no laboratory side-effects were observed in either patient. CONCLUSIONS: Although these results need to be confirmed by larger, long-term trials, it appears that acitretin is effective in the treatment of Bowen's disease related with arsenic, as well as arsenical keratosis.