Acral Speckled Hypomelanosis: A Case Report and a Review of Literature.

BACKGROUND: Acral speckled hypomelanosis is a very rare pigmentation disorder that appears early in life with hypopigmented macules on background of normal skin, occurring on the acral parts. CASE REPORT: We report a 9-year-old female patient with a 3-year duration of progressive, hypopigmented, confetti-like macules occurring symmetrically on the dorsum of both hands and feet. Biopsy showed normal number of melanocytes with no evidence of macromelanosomes using special stains for melanocytes. CONCLUSION: Acral speckled hypomelanosis is a relatively, recently, discovered entity, with only 9 cases reported to date, and our case is the 10th. The exact etiopathogenesis is not yet known.

Assessment of tissue E-cadherin and its proteolytic serum fragment in pemphigus vulgaris before and after remission: A case-control study.

BACKGROUND: E-cadherin is a classic cadherin that mediates keratinocyte adhesion. AIMS: To assess the tissue expression of E-cadherin and its proteolytic serum fragment (soluble E-cadherin) in pemphigus vulgaris (PV) before and after clinical remission compared with controls. PATIENTS: Thirty-seven PV patients and thirty controls were enrolled. Pemphigus disease area index (PDAI) was calculated for patients at baseline and after remission. Punch biopsy specimens were taken from patients before, and after remission, and from controls for assessment of tissue E-cadherin by immunofluorescence. Similarly, serum samples were collected for assessment of serum soluble E-cadherin by ELISA. RESULTS: Presence, intensity, and mean intensity of tissue E-cadherin were significantly reduced in PV patients before treatment compared with controls (p < 0.001). Detected E-cadherin showed mainly a basal and suprabasal distribution with cell surface and a cytoplasmic expression. Serum E-cadherin was significantly higher in patients before treatment compared with controls (p = 0.006). With remission, tissue E-cadherin presence, intensity, mean intensity, and serum E-cadherin showed statistically significant improvement (p = 0.003, <0.001, <0.001, and 0.003 respectively). Tissue E-cadherin presence and serum E-cadherin level reached values equivalent to the controls (p = 0.49 and 0.44, respectively). CONCLUSIONS: Disruption of tissue E-cadherin and upregulation of serum soluble E-cadherin can contribute to the pathogenesis of PV. Clinical remission of PV is associated with normalization of tissue and serum E-cadherin.

Downregulation of aquaporin 3 in bullous pemphigoid patients.

Bullous pemphigoid (BP) is a chronic autoimmune skin disease. Aquaporin 3 (AQP 3) has a possible role in the pathogenesis of many dermatological diseases. In this work, we aimed to evaluate the expression of AQP 3 in BP. Perilesional skin biopsies were taken from 24 BP patients and 13 controls. The biopsies were stained by direct immunofluorescence using rabbit anti-human AQP 3 FITC antibody. The expression of AQP 3 was weak in 5 patients (20.8%), moderate in 18 patients (75%), strong in 1 patient (4.2%) in the suprabasal layers. It was negative in 4 patients (16.7%), weak in 18 patients (75%), moderate in 2 patients (8.3%) and no strong fluorescence was seen in the basal layers. In the controls, the expression was strong in ten controls (76.9%), moderate in three controls (23.1%) and no controls showed weak fluorescence in the suprabasal layer. The basal layer showed strong fluorescence in 11 controls (84.6%), moderate in 2 controls (15.4%) and no controls showed mild or no fluorescence. There was a statistically significant difference in the expression of AQP 3 between basal and suprabasal layers of BP patients but not of the controls. There was statistically significant difference in the expression of AQP 3 between patients and controls in both the basal (P value < 0.001) and the suprabasal layers (P value < 0.001). In conclusion, AQP 3 was downregulated in BP patients especially in the basal cell layer. This suggests that AQP 3 plays a role in the pathogenesis of BP.