Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1–5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision. In histopathological examination, it consisted of c-kit-positive mast cells. Although pediatric cutaneous mastocytosis might regress spontaneously, clinicians should keep in mind that it could be associated with systemic mastocytosis which involves hematopoietic system.
Adult ; Child ; Hematopoietic System ; Humans ; Infant, Newborn ; Mast Cells ; Mastocytoma* ; Mastocytosis ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Parturition* ; Population Characteristics ; Prevalence ; Rare Diseases ; Skin

Mastocytosis is characterized by an accumulation of mast cells in various organs, most frequently in the skin. A solitary mastocytoma is a clinical variant of cutaneous mastocytosis. It is defined as a localized collection of mast cells in the skin without evidence of extracutaneous organ involvement. Here we report on a 2-year-old female patient presenting with Solitary erythematous bulla on her lower back. The patient had a history of spinal tap on the lower back for evaluation of meningitis at 5 months of age, which resulted in trauma at the site. Histopathology showed mast cells infiltrating the papillary and reticular dermis and metachromatic purple cytoplasmic granules seen with Giemsa staining. As a result, the patient was diagnosed with a solitary bullous mastocytoma and administered antihistamine. The patient showed complete remission at 3 months. Herein, we report a rare case of solitary bullous mastocytoma occurring at a trauma site.
Azure Stains ; Child, Preschool ; Cytoplasmic Granules ; Dermis ; Female ; Humans ; Mast Cells ; Mastocytoma* ; Mastocytosis ; Mastocytosis, Cutaneous ; Meningitis ; Skin ; Spinal Puncture*

Mastocytosis is a rare disease in infants and children that characterized by a pathologic increase and accumulation of mast cells in one or more organs. Cutaneous mastocytosis is a typical presentation of pediatric-onset mastocytosis and often presents classical symptoms and signs related with mast cell mediator including pruritus, flushing, abdominal pain and Darier's sign. We present our experience with two rare cases of cutaneous mastocytosis, a 3-month-old boy and a 4-month-old boy. The former had a recurrent single brownish plaque with yellowish bullae in right forearm without any other symptom or sign. The latter had multiple brownish plaques in his trunk and extremities with intermittent diarrhea and Darier's sign. In each, a punch biopsy confirmed the diagnosis of solitary mastocytoma and urticaria pigmentosa. After 2weeks of anti-histamine and leukotriene antagonist therapy for symptom relief, both infants had no remnant skin lesion or symptoms.
Abdominal Pain ; Biopsy ; Blister ; Child ; Diarrhea ; Extremities ; Flushing ; Forearm ; Humans ; Infant ; Mast Cells ; Mastocytoma ; Mastocytosis ; Mastocytosis, Cutaneous ; Pruritus ; Rare Diseases ; Skin ; Urticaria Pigmentosa

Adult ; Female ; Humans ; Mastocytoma ; diagnosis ; pathology ; Mastocytosis, Systemic ; diagnosis ; pathology ; Vulvar Neoplasms ; diagnosis ; pathology ; Young Adult

A patient with long-standing urticaria pigmentosa presented with a pea-sized reddish to purplish papule on the posterior part of the right ear. Histopathologic examination revealed numerous dilated vascular structures in the upper dermis and mast cell infiltrations throughout the whole dermis, consistent with combined mastocytoma-hemangioma. The mast cells were strongly positive with Giemsa stain.
Azure Stains ; Dermis ; Ear ; Hemangioma ; Humans ; Mast Cells ; Mastocytoma ; Urticaria ; Urticaria Pigmentosa

In a preliminary study, we found that benzyloxycarbonyl-Val-Ala-Asp(OMe)-fluoromethylketone (zVAD- fmk), unlike Boc-aspartyl(OMe)-fluoromethylketone (BocD-fmk), at usual dosage could not prevent genistein-induced apoptosis of p815 mastocytoma cells. This study was undertaken to reveal the mechanism underlying the incapability of zVAD-fmk in preventing this type of apoptosis. We observed that 14-3-3 protein level was reduced in genistein-treated cells and that BocD-fmk but not zVAD-fmk prevented the reduction of 14-3-3 protein level and the release of Bad from 14-3-3. We also demonstrated that truncated Bad to Bcl-xL interaction in genistein- treated cells was prevented by BocD-fmk but not by zVAD-fmk treatment. Our data indicate that BocD- fmk, compared to zVAD-fmk, has a certain preference for inhibiting 14-3-3/Bad signalling pathway. We also elucidated that this differential efficacy of BocD-fmk and zVAD-fmk resulted from the different effect in inhibiting caspase-6 and that co-treatment of zVAD-fmk and caspase-6 specific inhibitor substantially prevented genistein-induced apoptosis. Our data shows that caspase-6 plays a role on Bad/14-3-3 pathway in genistein-induced apoptosis of p815 cells, and that the usual dose of zVAD-fmk, in contrast to BocD-fmk, did not prevent caspase-6 acting on 14-3-3/Bad-mediated event.
bcl-Associated Death Protein/*metabolism ; *Signal Transduction/drug effects ; Mitochondria/drug effects ; Mice ; Mastocytoma ; Hydrocarbons, Fluorinated/*pharmacology ; Genistein/pharmacology ; Enzyme Inhibitors/*pharmacology ; Cell Line, Tumor ; Caspase 6/antagonists & inhibitors/*metabolism ; Benzyl Compounds/*pharmacology ; Apoptosis/*drug effects ; Animals ; Amino Acid Chloromethyl Ketones/pharmacology ; 14-3-3 Proteins/*metabolism

OBJECTIVETo study the therapeutic potential of Fas inhibition in different diseases, a Fas-targeting siRNA (small interfering)-expressing plasmid was constructed.

METHODSThe U6 promoter cassette and siFas (small interfering RNA that inhibit Fas expression) template sequence were obtained by PCR method. They were cloned into modified pcDNA3.1. The resultant plasmid pU6-siFas was transfected into P815 cells with lipofectin2000 and selected under G-418-containing culture medium. Fas inhibition in stably transfected cells was detected by immunocytochemistry.

RESULTSThe plasmid pU6-siFas efficiently reduced the expression of Fas and conferred G-418 resistance in P815 cells.

CONCLUSIONThe successful construction of the siRNA expressing plasmid will facilitate the application of RNA interference technique and lay the foundation for further study of Fas inhibition in the treatment of different diseases such as aplastic anemia and acute liver failure.

Animals ; Cell Line, Tumor ; Gene Silencing ; Gene Targeting ; methods ; Genetic Vectors ; genetics ; Mastocytoma ; genetics ; metabolism ; Mice ; Plasmids ; analysis ; genetics ; RNA, Small Interfering ; genetics ; Transfection ; methods ; fas Receptor ; genetics ; metabolism

Animals ; Cancer Vaccines ; immunology ; Cell Fusion ; methods ; Cell Line ; Dendritic Cells ; cytology ; immunology ; Fibrosarcoma ; immunology ; pathology ; Hybrid Cells ; immunology ; Mastocytoma ; immunology ; pathology ; Mice ; Mice, Inbred BALB C ; T-Lymphocytes ; immunology ; pathology ; T-Lymphocytes, Cytotoxic ; immunology ; Tumor Cells, Cultured

OBJECTIVEHIV-1 DNA vaccine and recombinant adeno-associated virus (rAAV) expressing gagV3 gene of HIV-1 subtype B were constructed and BALB/c mice were immunized by vaccination regimen consisting of consecutive priming with DNA vaccine and boosting with rAAV vaccine; the CTL and antibody response were detected and compared with those induced by DNA vaccine or rAAV vaccine separately.

METHODSHIV-1 subtype B gagV3 gene was inserted into the polyclonal site of plasmid pCI-neo, DNA vaccine pCI-gagV3 was thereby constructed; pCI-gagV3 was transfected into p815 cells, G-418-resistant cells were obtained through screening transfected cells with G418, the expression of HIV-1 antigen in G-418-resistant cells was detected by EIA; BALB/c mice were immunized with pCI-gagV3 and the immune response was tested; BALB/c mouse immunized with pCI-gagV3 and combined with rAAV expressing the same gagV3 genes were tested for antibody level in sera by EIA method and cytotoxicity response by LDH method.

RESULTSpCI-gagV3 could express HIV-1 gene in p815 cells; pCI-gagV3 could induce HIV-1 specific humoral and cell-mediated immune response in BALB/c mice. The HIV-1 specific antibody level was 1/20; when the ratio of effector cells: target cells was 50:1, the average specific cytotoxicity was 41.7%; there was no evident increase in the antibody level induced by pCI-gagV3 combined with rAAV, but there was increase in CTL response, the average specific cytotoxicity was 61.3% when effector cells: target cells ratio was 50:1.

CONCLUSIONHIV-1 specific cytotoxicity in BALB/c mice can be increased by immunization of BALB/c mice with DNA vaccine combined with rAAV vaccine.

AIDS Vaccines ; immunology ; Animals ; Antibodies, Viral ; blood ; Cell Line, Tumor ; Dependovirus ; genetics ; Gene Products, gag ; genetics ; metabolism ; HIV-1 ; genetics ; immunology ; L-Lactate Dehydrogenase ; blood ; Mastocytoma ; metabolism ; pathology ; Mice ; Mice, Inbred BALB C ; Recombination, Genetic ; T-Lymphocytes, Cytotoxic ; immunology ; Transfection ; Vaccines, DNA ; immunology

Nine-month-old female infant was seen with a 7-month history of a nodule on the right temporal scalp, which had gradually increased in size. Stroking of the lesion resulted in urtication and blistering and there were no other cutaneous lesions. The histology showed subepidermal bulla formation and a dense infiltration of mast cells in the papillary and reticular dermis. We present an infant with solitary mastocytoma on the scalp, a rare site.
Blister ; Dermis ; Female ; Humans ; Infant ; Mast Cells ; Mastocytoma* ; Scalp* ; Stroke