Naoyuki Higashi

Toxic epidermal necrolysis complicated by multiple intestinal ulcers

On 11 November 2001, a 30‐year‐old woman was treated by an emergency doctor for cold symptoms, including pyrexia and pain in the pharynx. She was prescribed norfloxacin (NFLX), acetaminophen, and tranexamic acid, as well as additional supporting medicines that she chose not to use. On the following day, the patient went to the outpatient unit of the department of internal medicine of a general hospital; she was admitted because of continuing fever. She was prescribed a combination medication for Bifidus bacillus containing mefenamic acid and aluminum hydroxide gel/magnesium hydroxide, as well as NFLX and teprenone, but erosions of her face appeared on 15 November, followed by erosions of the trunk on 17 November. She was suffering from inflammation and blisters over her whole body. She was diagnosed with toxic epidermal necrolysis (TEN) by the department of dermatology of the same hospital. The patient underwent steroid pulse therapy for 3 days from 17 November, which was not effective, and was transferred to our hospital on 22 November.

Erythromelalgia associated with Clitocybe acromelalga intoxication

Context. Erythromelalgia is a rare disorder characterized by reddening, severe burning pain, and swelling of the extremities. Food poisoning by Clitocybe acromelalga, a poisonous mushroom, is known to induce erythromelalgia; however, its treatment protocol remains unclear. We describe here three cases of erythromelalgia following the consumption of C. acromelalga with varying clinical courses. Case details. Of the three patients, the first patient presented 22 days after the onset of erythromelalgia; although he was treated with aspirin, numbness in the limbs persisted as sequela. Patient 2 presented at 3 days after the symptomatic onset and was immediately treated with high-dose intravenous nicotinic acid, with a dramatic symptomatic improvement. Patient 3, who had milder symptoms, spontaneously recovered within a week without any treatment. Discussion. The clinical manifestations and varying clinical courses associated with C. acromelalga toxicity are discussed here, with the pathogenesis of this mycotoxin and a potential treatment. Detailed interviews of such patients are important, particularly because of the remarkably slow course of this mycotoxin as compared with common food poisonings. Treatment with intravenous nicotinic acid was associated with improvement in one patient. We believe that this painful disorder might thus be treatable, although the mechanism underlying the treatment remains unclear.

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.

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.

Therapeutic potential of nicotinic acid in erythromelalgia associated with Clitocybe acromelalga intoxication

intoxication. We believe that not only irregular distribution of peripheral blood fl ow and neurovas-cular dysfunction but also infl ammatory mediators, such as calcitonin gene-related peptides (CGRP), may be involved in the pathological condition resulting from intoxication of this mycotoxin because of the delayed improvement of burning and sharp pain regardless of normalized color of the skin.

Incontinentia pigmenti in a Japanese female infant with a novel frame-shift mutation in the IKBKG gene

three other cases, but those patients had no psoriasiform dermatitis. The p.Arg853* mutation causes a deletion of the C-terminal domain, which is essential to ubiquitination and phosphorylation of NF-jB2 p100 required for processing to p52 and nuclear translocation. Similar to defects in B cells, the cytoplasmic accumulation of NF-jB2 in the present case suggests that the cutaneous autoinflammation may be due to impaired non-canonical NF-jB2 signaling in the epidermis.

Primary cutaneous diffuse large B-cell lymphoma, leg type, localized in the right periorbital region

Dear Editor, Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) typically occurs in elderly individuals and affects one or both lower legs. Here, we report a case of PCDLBCLLT with an unusual cutaneous manifestation, wherein the lesions were localized in the right periorbital region. An 82-year-old Japanese woman presented with a 6-month history of slow-growing, asymptomatic nodules localized in the right periorbital region. These were diagnosed as dacryoadenitis by an ophthalmologist. The patient was treated with 40 mg/ day prednisolone without resolution. The patient had a medical history of colon cancer. On physical examination, three hard red nodules were detected in the right periorbital region (Fig. 1a). The patient reported that the nodules were increasing in size and subsequently found it difficult to open her right eye (Fig. 1b). No other cutaneous lesions or regional lymphadenopathy were identified. Differential diagnoses included sarcoidosis, metastatic skin cancer, adnexal tumor and malignant lymphoma. A biopsy specimen taken from one of the nodules revealed massive lymphocytic infiltration throughout the dermis and subcutaneous fat tissue (Fig. 1d). Adnexal structures, including hair follicles, were destroyed by infiltrating neoplastic cells. The lesion mainly consisted of immunoblastic and centroblastic cells (Fig. 1e). Immunohistochemical analysis revealed that the neoplastic cells were positive for CD20, CD79a, BCL-2, BCL-6 and IRF4/MUM-1; and negative for CD3, CD4, CD5, CD10 and Epstein–Barr virus-encoded small RNA-in situ hybridization (Fig. 1f–k). The Ki-67 (MIB1) proliferative index was approximately 90%. Laboratory test results, including serum soluble interleukin-2 receptor levels, were within normal ranges. Positron emission tomography–computed tomography revealed no abnormal F-fluorodeoxyglucose uptake other than in the right periorbital region. Bone marrow aspiration showed no invasion of neoplastic cells. These findings led to a diagnosis of PCDLBCL-LT. The patient completed six cycles of chemotherapy with rituximab (600 mg/body, day 1), pirarubicin (30 mg/body, day 2), cyclophosphamide (500 mg/body, day 2), vincristine (1.5 mg/body, day 2) and prednisolone (45 mg/day, days 2–6) (R-THP-COP). The nodules became flattened after the first cycle of R-THP-COP was finished (Fig. 1c). The RTHP-COP regimen was completed without adverse effects and resulted in complete remission. The patient had no evidence of recurrence 18 months after treatment and was lost to follow up thereafter. Primary cutaneous diffuse large B-cell lymphoma, leg type, is a lymphoma with poor prognosis; the estimated 5-year cause-specific survival rate is approximately 50%. Although PCDLBCL-LT preferentially affects the lower legs, 10–15% of cases present elsewhere. Previous studies revealed that the prevalence of PCDLBCL-LT in the head and neck region was 2.5–8.6%. It has been reported that a combination of rituximab and polychemotherapy improved the 3and 5-year cause-specific survival rates in elderly patients, 47% of whom were older than 80 years. As our patient’s lesions were highly localized, we contemplated performing radiotherapy. However, considering the vicinity of the lesions to the right eye, we chose R-THP-COP chemotherapy. This case highlights that PCDLBCL-LT can develop in the face in a highly localized manner and broadens the range of clinical presentations observed in patients with PCDLBCL-LT.

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.

Erratum to: Epidermolysis bullosa acquisita in a patient with psoriasis vulgaris

11th – 14th May 2016, Scottsdale, Arizona (USA) Annual Meeting of the Society for Investigative Dermatology http://www.sidnet.org/2016annualmeeting 14th – 16th July 2016, Minneapolis, Minnesota (USA) 42st Annual Meeting of the Society for Pediatric Dermatology http://pedsderm.net/meetings/annualmeeting/ 12th – 14th October 2016, Nagano (Japan) 12th Meeting of the German-Japanese Society of Dermatology http://gjsd2016japan.jp/index.html