An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.

Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in a few families with DD. We herein report a classic Japanese DD case with a previously described mutation (p.C560R) in ATP2A2. In Japan, 26 mutations in the ATP2A2 gene in 7 pedigrees and 19 sporadic cases with DD have been reported, among which one pedigree and one sporadic case were accompanied by neuropsychiatric symptoms. A review of the reports confirmed that most mutations were of the missense type and no consistent genotype-phenotype correlations were found.

Pott's Puffy Tumor in an Adult: A Case Report and Review of Literature.

Pott's puffy tumor is a subperiosteal abscess of the frontal bone with osteomyelitis which has become rare because of the widespread use of antibiotics. Here, we report a case of Pott's puffy tumor in a 46-year-old man who visited the department of dermatology with painful swelling of the forehead. Despite open drainage and oral antibiotic therapy, the symptoms recurred twice in the following month. Computed tomography revealed a fistula of frontal bone. The eventual diagnosis was Pott's puffy tumor. The patient underwent endoscopic surgery at the department of otorhinolaryngology and achieved a complete recovery.

Subcutaneous angiolipoma: magnetic resonance imaging features with histological correlation.

PURPOSE: Despite producing pain, angiolipoma is sometimes misdiagnosed as an ordinary small lipoma, which is usually not associated with pain. Few reports have described magnetic resonance (MR) imaging findings of angiolipoma. The aim of the present study was to clarify the MR imaging features of angiolipoma. MATERIALS AND METHODS: The MR imaging findings of 11 lesions in 7 patients were reviewed and compared with histopathological findings. RESULTS: The MR imaging features of these lesions were the presence of fat nodules with or without areas of low signal intensity on T1- and T2-weighted images. The location of the low-signal-intensity areas varied. The low-signal-intensity areas were mainly in the peripheral portion of 3 lesions and in the central portion of 5 lesions. No or few low-signal-intensity areas were observed in 3 lesions. In the lesions with peripheral low-signal-intensity areas, lesion marginations were well defined, and the lesions were easily recognized as mass lesions. In the lesions with only central low-signal-intensity areas, marginations were poorly defined, and the lesions were not easy to recognize as mass lesions. In the lesions with few or without low-signal-intensity areas, marginations were invisible. Histopathological studies indicated that the low-signal-intensity areas on T1- and T2-weighted images corresponded to areas of dense capillary proliferation. In lesions with few or without low-signal-intensity areas on MR images, capillaries were thinly spread over almost the entire lesion area. CONCLUSION: The MR imaging features of angiolipoma are fat nodules with or without low-signal-intensity areas of various size and location on T1- and T2-weighted images.

Nodular-type lichen myxedematosus: a case report.

An 18-year-old Japanese woman noticed a progressive appearance of nodules on both forearms and on the left cubital fossa and left thigh one year before her initial consultation at our department. Physical examination showed elastic hard, slightly elevated, shiny and yellowish to skin-colored nodules of 6 to 10 mm in size on her extremities. From laboratory and histopathological findings, nodular-type lichen myxedematosus was diagnosed and nodules showed complete remission following local injection of triamcinolone acetonide.

Clinical features of antinuclear antibody-positive patients with atopic dermatitis.

Twenty to thirty percent of patients with atopic dermatitis (AD) are positive for antinuclear antibodies (ANAs). In this study we investigated the prevalence of ANA in 100 patients with AD and examined the difference between ANA-positive (ANA+) and ANA-negative (ANA(-)) patients with AD. ANAs were identified with indirect immunofluorescence on Hep-2 cells. Nineteen patients (19%) with AD were found to be positive for ANAs at titers ranging from 1 : 40 to 1 : 640. The rate of ANA positivity in male patients (20.4%) was higher than that in female patients (17.6%). The rate of ANA positivity differed significantly between patients with AD and healthy control subjects (p=0.0001, odds ratio: 2.8). There was also a relationship between ANA+ AD and photosensitivity in male subjects (p=0.0346). The ANA+ patients with AD showed higher levels of cedar pollen-specific IgE than did ANA(-) patients (p=0.0232). In ANA+ patients disease severity was correlated with basophil counts (r=0.513, p=0.0344) and serum LDH levels (r=0.741, p=0.0056). The results indicate that patients with AD who are positive for ANA are a subpopulation of patients with AD.

Atopic eczema complicated by systemic lupus erythematosus.

We report two patients with atopic eczema (AE), who developed systemic lupus erythematosus (SLE). Case 1 was a 25-year-old man who developed SLE during treatment of AE in our department. He had a positive antinuclear antibody (ANA) (1:640), anti-ssDNA, anti-SSA and anti-RNP. Case 2 was a 27-year-old man who had a past history of AE. He developed SLE and had a positive ANA (1:320), anti-ssDNA, anti-dsDNA and anti-SSA. Among 33 patients with SLE in our department, four had suffered from AE (12%). There have been a few reports of AE complicated by SLE. Even if it is very rare, like case 1, that two morbid conditions, AE and SLE simultaneously exist in an individual, our findings suggest that it is necessary to measure various autoantibodies in ANA (+) patients with AE and to carefully monitor those patients for long-term development of SLE symptoms if other autoantibodies are positive.

A case of hypereosinophilic syndrome.

A 22-year-old man developed papules on his legs in November of 2001, which then spread to cover almost his entire body. He was treated with a topical steroid and PUVA therapy at another hospital. The symptoms showed no improvement, and, in February of 2002, he came to our hospital. Examination revealed hypereosinophilia, and, because he had symptoms of organ involvement by the heart, lung, and inguinal lymph nodes as well as the skin, we diagnosed him with idiopathic hypereosinophilic syndrome (HES). The patient was treated with oral prednisolone at a dose of 60 mg/day, and his cutaneous lesions and other organ symptoms improved.

[The effect of suplatast tosilate on the patients with atopic dermatitis--relationship between clinical symptoms and immunological parameters].

The Th2 cytokine inhibitor, suplatast tosilate (300 mg/day) was administered to 45 cases of patients with atopic dermatitis for 8 weeks. The clinical scores, peripheral blood eosinophil counts, serum LDH levels, total IgE levels, serum eosinophil cationic protein (ECP) levels, and serum IL-5 levels before and after the treatment were observed and comparatively evaluated. The results of this study were summarized as follows. 1) Temporary improvements were found in the severity score, itching score, and sleeplessness score. All evaluated scores decreased significantly for all observation periods at 2, 4, 6 and 8 weeks after administration of suplatast tosilate compared with those before the administration. 2) In severe group, there was a significant improvement of severity score of lower limb. In moderate group there were significant improvements of severity score of head, face, neck and of upper limb. There were significant improvements of severity score of trunk and upper limbs in mild group. 3) The peripheral blood eosinophil counts and serum LDH levels significantly diminished compared with those before administration, but no significant difference was found in total IgE levels and serum ECP levels. 4) The serum IL-5 levels decreased after administration, however, there was no statistical significance. 5) The positive correlations between delta-severity score and delta-peripheral eosinophil count, delta-serum LDH levels, delta-serum ECP levels were found. 6) The positive correlations between delta-peripheral eosinophil count and delta-serum LDH levels, delta-serum ECP levels were observed. 7) There was no sign of adverse effects of the drug. From the above mentioned results, we confirmed the high efficacy of suplatast tosilate in the treatment of atopic dermatitis.