Rare Case of Paraneoplastic Pemphigus Associated With Prostatic Cancer.

ABSTRACT: The combination of paraneoplastic pemphigus and prostate cancer is extremely unusual and has not been reported yet. Paraneoplastic pemphigus is caused by tumor-induced autoantibodies, which cause damage to the skin and mucosa. The essential treatment is active tumor control. Our patient received a robot-assisted radical prostatectomy and glucocorticoid therapy to improve his condition and relieve his skin lesions.

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

BACKGROUND: Bullous dermolysis of the newborn (BDN), an extremely rare clinical type of dystrophic epidermolysis bullosa (DEB), is characterized by subepidermal blistering at birth or shortly thereafter, followed by rapid improvement with minimal scarring or pigmentation. A total of 38 cases have been reported in the literature since the disease was initially described in 1985, but only 14 mutations in COL7A1, the gene responsible for the disease, have been detected in families with BDN. OBJECTIVES: We report a Chinese male infant with BDN and indirect inguinal hernia, in whom a novel de novo mutation in COL7A1 was demonstrated. METHODS: DNA was obtained from the blood of the patient and his parents. The coding exon and flanking regions of COL7A1 gene were amplified by polymerase chain reaction and subjected to sequence analysis. RESULTS: Sequencing showed a heterozygous substitution of guanine by adenine at nucleotide position 6136 of exon 73 in the triple helical domain of type VII collagen, which predicts a change of glycine by serine at position p.G2046S. The mutation was considered to be a pathogenic and de novo mutation. CONCLUSIONS: The coexistence of BDN and indirect inguinal hernia may simply be coincidental. These data contribute to the expanding database of COL7A1 mutations in DEB and should be useful for genetic counseling and prenatal diagnosis in affected families.

The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.

BACKGROUND: Darier's disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca(2+) ATPase type 2 are responsible for the disease. Here we report two Chinese families affected by DD with two ATP2A2 mutations. MATERIALS AND METHODS: DNA was extracted from the peripheral blood samples and then subjected to polymerase chain reaction amplification and direct automated DNA sequencing. RESULTS: A heterozygous G to T transition in the first nucleotide of intron 7 (c.630 + 1G>T) and G to A transversion at nucleotide 2898 in exon 20 of the ATP2A2 gene were identified in two pedigrees, respectively. The former mutation in the splice site is a novel mutation and is thought to lead to aberrant splicing and premature protein truncation. The latter has already been described, which leads to premature termination codons (PTC) (W966X). CONCLUSION: The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.

Induction of apoptosis by Hax-1 siRNA in melanoma cells.

HS1-associated protein X-1 (Hax-1) is a novel intracellular protein and recent studies suggested that it is an anti-apoptotic factor in different tumors. Hax-1 expression was upregulated in various metastatic tumors and cancer cell lines, including melanoma. To understand the role of Hax-1 in melanoma development and progression, we constructed Hax-1 short interfering RNA (siRNA) expression vectors to downregulate Hax-1 expression in a human melanoma A375 cell line. One of the two Hax-1 RNA interference (RNAi) constructs significantly reduced melanoma cell viability, which was due to induction of apoptosis in A375 cells. Molecularly, the induced apoptosis through downregulation of Hax-1 expression was mediated by activation of caspase-3 and poly-ADP-ribose polymerase (PARP) enzymatic activity in A375 cells. The data indicate that Hax-1 plays a role in suppression of apoptosis and promotion of melanoma cell growth, suggesting that this Hax-1 siRNA has a therapeutic indication in control of melanoma.

Novel mutations of the ATP2A2 gene in two families with Darier's disease.

Darier's disease (DD) is an autosomal dominant genodermatology. Mutations in the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium pumping ATPase type 2 (SERCA2) have been identified as the molecular basis of DD. The aim of this study was to report two Chinese pedigree of DD and to explore the genetic mutations. Polymerase chain reaction was carried out to amplify the exons and flanking intron boundaries of the ATP2A2 gene followed by direct sequencing. Two novel missense mutations were identified, a change of C203 to A (A68E) in exon 3 was found in one family and a change of C2759 to T (S920F) in exon 19 in the other, which were located within the transmembrane domain of SERCA2, highly conserved during evolution. The A68E and S920F mutations might be regarded as the causes of the disease in two Chinese families, but these were not tested functionally. Additional functional experiments are necessary to verify the relevance and suitability of these findings for future use in genetic counseling and prenatal diagnosis.