Angioimmunoblastic T-cell lymphoma with elevated serum IgA and infiltration of IgA-positive plasma cells into a skin lesion.

Angioimmunoblastic T-cell lymphoma (AITL) is one of the most common types of peripheral T-cell lymphoma. Laboratory examination exhibits immunological abnormalities, such as polyclonal hypergammaglobulinemia and hemolytic anemia. Skin lesions are also observed in approximately half of AITL cases. However, the relationship of skin involvement with the clinical course and prognosis is unknown. Herein, we report the case of a patient with AITL with elevated serum immunoglobulin A (IgA) level, which was a predictive element of poor prognosis, and infiltration of IgA-positive plasma cells into the skin lesions. Based on this case, we believe that skin manifestations could be used to identify the characteristics of immune disorders and prognosis of AITL.

Rare manifestation of hypereosinophilic syndrome: Diffuse-type hair loss with massive perifollicular eosinophils.

A 46-year-old woman consulted our hospital with diffuse alopecia and blood eosinophilia. Histological examination of the scalp revealed dense eosinophilic infiltration around the hair follicles and in the surrounding subcutis. Oral corticosteroid was effective to reduce hair loss and blood eosinophilia, but these conditions immediately relapsed after ending treatment. In addition to alopecia, she had diarrhea and colitis showing histological findings of dense eosinophilic infiltrations in the submucosa. We diagnosed hypereosinophilic syndrome based on hypereosinophilia of blood and tissue with clinical symptoms of alopecia and diarrhea. We suppose diffuse alopecia showing massive eosinophilic infiltration around the hair follicle is a rare symptom of hypereosinophilic syndrome.

Juvenile Localized Scleroderma with Hyaline Deposits in the Renal Arteriole.

We report a 10-year-old boy with localized scleroderma of the linear and plaque type, who showed proteinuria and hematuria. In this patient, skin, articular, and renal manifestations appeared successively and then began to resolve in the same order. A renal biopsy specimen demonstrated mild mesangial cell proliferation, exudate of immunoglobulin in the glomerular capillary, and large electron-dense deposits in the afferent arteriole. We consider that there were some transient factors that had caused the skin and articular manifestations, which also induced renal vascular inflammatory responses.

Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency.

Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Serum IgM levels were extremely low at 10 mg/dl. There were no abnormalities in neutrophil and total B cell number, or in serum IgA and IgG levels. Increased CD8+ T cell counts and inversion of the CD4/CD8 ratio were observed repeatedly. The patient's clinical features and laboratory data support a diagnosis of selective IgM deficiency (SIgMD) with concurrent AC. Immunoglobulin replacement therapy elevated serum IgM levels to the normal range and reduced the severity of AC. We suggest that T13 may represent a syndromic disorder associated with multiple organ malformation and a risk of developing immunodeficiency involving SIgMD. Because pediatric SIgMD is rare and an immunological abnormality in T13 patients has not previously been reported, we describe the patient's clinical course.

A Pediatric Case of Acute Generalized Pustular Eruption without Streptococcal Infection.

Generalized pustular lesions characterized by acute onset with fever occur in pustulosis acuta generalisata, acute generalized exanthematous pustulosis, and generalized pustular psoriasis. In the present report, we describe a pediatric case of generalized pustular eruption that was not completely consistent with clinical features. Our patient had no evidence of a post-streptococcal infection. We observed scattered symmetric eruption of discrete pustules with an inflammatory halo on normal skin. The eruption was absent on her palms and soles of the feet. To the best of our knowledge, there are no reports in the English literature of cases with clinical features similar to those of our patient.

A simple method to treat an ingrowing toenail with a shape-memory alloy device.

An ingrowing toenail has no definitive treatment. Previously, effective methods were complicated but easy ones had less effect. We show both an easy and an effective way with Cu-Al-Mn-based shape-memory alloys (SMAs). They have a characteristic shape which patients themselves can detach easily without any pain. But they also have enough corrective force. Cu-based SMAs cost much less than Ni-Ti-based alloys. Despite not being appropriate for all cases of ingrowing toenails, it is an easy, effective and less costly alternative.

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. Therefore, we hypothesized that HI might be caused by mutations that lead to serious ABCA12 defects. We identify 5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 HI families. All the mutations resulted in truncation or deletion of highly conserved regions of ABCA12. Immunoelectron microscopy revealed that ABCA12 localized to LGs in normal epidermal keratinocytes. We confirmed that ABCA12 defects cause congested lipid secretion in cultured HI keratinocytes and succeeded in obtaining the recovery of LG lipid secretion after corrective gene transfer of ABCA12. We concluded that ABCA12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI. Our findings not only allow DNA-based early prenatal diagnosis but also suggest the possibility of gene therapy for HI.

Characterization of Epstein-Barr virus (EBV)-positive NK cells isolated from hydroa vacciniforme-like eruptions.

Recently, the involvement of Epstein-Barr virus (EBV) in hydroa vacciniforme (HV)-like eruptions has been suggested. To elucidate the role of EBV in this disease, we isolated EBV-infected cell clones from peripheral blood mononuclear cells (PBMC) and the skin lesions of a patient with HV-like eruptions; cells isolated from PBMC were designated SNK-12, and those from the eruption SNK-11. Both cells expressed CD16, CD56, and HLA-DR and had germline configurations of the T-cell receptor and the immunoglobulin genes, indicating that the cell clones were of NK cell lineage. The analysis of EBV terminal repeats indicated that the cells were monoclonal, had identical clonality, and originated from EBV-positive cells in the PBMC and eruption. Both clones expressed EBNA-1, but not EBNA-2. Although LMP-1 was weakly detected in SNK-11, no LMP-1 was detected in SNK-12. Interestingly, EBV-infected cells required less IL-2 for in vitro growth in the later phase of this disease and this appeared to correlate with the expression of LMP-1, suggesting that the proliferative capacity of the EBV-positive NK cells increased during the time course of the disease, and LMP-1 expression might be responsible for that. This is the first report of the isolation of EBV-infected cells from the skin lesions of HV-like eruptions and strongly suggests that the HV-like eruption in the patient was caused by clonal NK cells with latent EBV infection.

Cutaneous late phase reaction in adult atopic dermatitis patients with high serum IgE antibody to Dermatophagoides farinae: correlation with IL-5 production by allergen-stimulated peripheral blood mononuclear cells.

It is known that, in patients of allergic asthma and rhinitis, the late-phase reaction (LPR) occurs 6-12 h after allergen challenge, but there are few reports concerning cytokine production in the cutaneous LPR in atopic dermatitis (AD). We report here the results of our study on the relationship between the cutaneous LPR and the production of cytokines such as IL-4, IL-5, IL-2 and IFN-gamma by peripheral blood mononuclear cells (PBMC) of AD patients. We selected 29 pure AD patients with no history of atopic airway diseases who showed high serum IgE antibody against Dermatophagoides farinae and performed skin prick testing with three different antigens and observed the resultant cutaneous reactions in 23 of the AD patients. Furthermore, we measured the cytokine production by the cultured PBMC under the stimulation of the antigens and compared it with the results of the skin tests. 13 (57%) of these 23 AD patients demonstrated positive LPR in response to D. farinae, and the mean concentration of IL-5 produced by PBMC was higher in these LPR-positive AD patients compared to the LPR-negative ones. Additionally, we noticed that there was a positive correlation between the mean diameter of the erythema of LPR and the level of IL-5 production by PBMC in the LPR-positive patients. We suggest that there are at least two groups in AD patients, i.e. LPR-positive and LPR-negative ones. The observation of LPR can be an important and practical way to classify AD patients into subgroups, which may enable us to regard IL-5 or eosinophils as a target for treatment.

Malignant melanoma arising from cutaneous bronchogenic cyst of the scapular area.

Bronchogenic cyst, an uncommon developmental anomaly that originates from the primitive tracheobronchial tree, is rare in the skin. The shoulder region is a particularly rare location. We report a 46-year-old Japanese man with recurrent malignant melanoma that arose from such a cutaneous bronchogenic cyst in the left scapular area. Despite wide local excision and subsequent chemotherapy, he died 18 months after surgery of the melanoma because of its lung metastasis. This is the first case of bronchogenic cyst in which malignant melanoma occurred.