Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1.

Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 registered from 2001 to 2014 in Japan. The ratio of certified patients requiring medical intervention (>stage 3) was 82%. Patients classified in the most severe grade experienced dermatological complications (71.8% of patients), neurological complications (38.1%) and bone complications (33.3%). In patients with dermatological manifestations, medical treatment was needed for cutaneous neurofibromas (58%), diffuse plexiform neurofibromas (31%) and malignant peripheral nerve sheath tumours (10%). Patients with neurological manifestations needed medical treatment mainly for brain tumours (53%) and intellectual disability (26%). Patients with bone manifestations needed medical treatment for pseudoarthrosis (9%), scoliosis (55%) and bone defects (16%). It is necessary for physicians to be aware of neurofibromatosis 1-related complications requiring medical intervention in order to provide appropriate care for patients with neurofibromatosis 1.

Porocarcinoma Concurrent with Psoriasis Vulgaris: The First Report.

Psoriasis is a common chronical inflammatory skin disease with a prevalence of 2%-4% worldwide. In contrast, porocarcinoma is a relatively rare cutaneous neoplasm and an associated localization of both lesions is rare. Here, we describe the first case of porocarcinoma in a patient with psoriasis. A 71-year-old Japanese man was referred to our clinic for evaluation of nodule within a keratotic plaque of 20-years history on his leg. Histopathological examination showed that the plaque revealed acanthosis with regular elongation of rete ridges, agranulosis and the presence of Munro microabscesses. In contrast, massive proliferation of atypical poroid cells and a few cuticular cells in the dermis were seen in the nodule. We speculated that it is likely the porocarcinoma was caused by the elevated risk of skin cancer due to chronic inflammatory process of psoriasis itself in our patient.

Health-related quality of life in patients with neurofibromatosis 1 in Japan: A questionnaire survey using EQ-5D-5L.

Neurofibromatosis 1 (NF1) is a genetic disorder characterized by various symptoms including dermatological, neurological, and osseous manifestations. These complications often cause cosmetic or functional disturbances, resulting in a significant impact on quality of life (QOL). However, there are limited data on QOL of individuals with NF1 in Japan. Therefore, we studied health-related QOL in patients with NF1 compared with that in general populations and the association with severity grade using EQ-5D. A cross-sectional study was conducted for 73 adult NF1 patients (26 males and 47 females; mean age, 44.16 years). The EQ-5D-5L values and visual analog scale (VAS) in patients with NF1 were 0.738 ± 0.137 and 69.93 ± 19.14, respectively. Both scores were significantly lower in patients with NF1 than in healthy volunteers (p < 0.0001). The score for anxiety/depression was the highest among the five items of EQ-5D. Although we investigated differences in the index value and VAS between stage 2 or less and stage 3 or higher, there was no difference in the scores between groups related to certification criteria for the public medical expenses subsidy system. EQ-5D-5L is a valuable assessment tool for health-related QOL in patients with NF1, but it might not be sufficient for severity certification of NF1 in Japan. We would need the revision of the current certification based on the patients' demand in the future. Our findings might be useful for assessment of therapeutic effects and appropriate resource allocation in the care of patients with NF1.

Simultaneous Occurrence of Lichen Nitidus and Morphea.

Lichen nitidus and morphea are common diseases, but an associated localization of both lesions is rare. Here, we describe the first case of lesions distributed along Blaschko's lines. A 24-year-old Japanese woman was referred to our clinic for evaluation of band-like plaques of 18-months history on the right lateral side of her abdomen. In addition, multiple milky-white papules were seen within the plaques. Histopathological examination showed there was sclerosis in the lower half of the dermis and well-circumscribed, dense, papillary dermal lymphohistiocytic aggregations showing a so-called "claw clutching a ball." Immunohistochemical analysis revealed that the morphea and lichen nitidus had similar characteristics. We speculated that unique immunologic events led to the development of lichen nitidus and morphea in our patient.

Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous abnormalities. Approximately 20% of patients develop plexiform neurofibroma (PN), resulting in impaired quality of life. To evaluate distribution of diffuse PN on the body surface, a retrospective study was conducted for 354 patients with NF1 from 2007 to 2018 in Japan. We investigated a total of 40 patients with clinically apparent superficial diffuse PN. In the cases evaluated, 57.4% of the diffuse PN were located on the trunk, 19.2% the head and neck, 12.8% the lower limbs and 10.6% the upper limbs. Remarkably, 75.0% of the diffuse PN were located on the dorsal side. The frequency was significantly higher on the trunk than on the head and neck (P = 0.026). Our findings provide useful information for giving attention to the high possibility of diffuse PN on the dorsal side before progression in childhood and for future treatment in NF1.

Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time-dependent changes and the numbers of cutaneous neurofibromas in four body surface regions. There was a positive correlation between age and number of cutaneous neurofibromas (r = 0.75, P < 0.001). Cutaneous neurofibromas were located on the trunk (60.2%), lower limbs (16.1%), upper limbs (14.4%), and head and neck (9.2%). There was no significant relationship between each body type (e.g. obese or thin) and cutaneous neurofibromas. With respect to the year-to-year percentage change in cutaneous neurofibromas, the average annual rate of increase was 0.21 (range, -0.71 to 1.2). The number of cutaneous neurofibromas had increased in approximately 61% of the patients 1 year later. Our data will enable physicians to estimate the overall state of cutaneous neurofibromas in NF1 and will be useful for handling cutaneous manifestations before they become a serious condition.

Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.

Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous complications. Although clinical manifestations of NF1 are variable, there has been no report on evaluation of severity in patients with NF1. To elucidate the grade of severity of NF1, a retrospective study was conducted in 124 NF1 patients at the Department of Dermatology of Tottori University Hospital in 2007-2016. The DNB classification (dermatological, neurological and bone manifestations) in Japan was used for assessment. Based on our current epidemiological data, there were 55 patients (44.3%) in stage 1, 23 (18.6%) in stage 2, three (2.4%) in stage 3, one (0.8%) in stage 4 and 42 (33.9%) in stage 5. The grade of severity in patients with NF1 tended to be higher with aging. Remarkably, 61.8% of the patients in stage 5 had diffuse plexiform neurofibromas with functional disability. We should pay attention to diffuse plexiform neurofibromas that greatly affect quality of life in patients with NF1.

The expression of melanoma inhibitory activity on mast cells in child patients with cutaneous mastocytosis.

BACKGROUND: Cutaneous mastocytosis is a disorder characterized by the proliferation of mast cells in the skin. Melanoma inhibitory activity (MIA) is a serum marker for malignant melanoma. However, it has not been known on MIA expression of cutaneous mastocytosis. METHODS: We investigated the expression of MIA in 4 child patients with cutaneous mastocytosis immunohistochemically and serum MIA level in 1 patient by enzyme-linked immunosorbent assay. RESULTS: Histopathological examination revealed diffuse mast cell infiltration in the dermis. MIA was positive for infiltrating mast cells in all patients. Serum level of MIA was elevated in 1 patient. CONCLUSION: Although it was difficult to assess the significance of elevated serum levels of MIA in child patients, MIA was expressed on infiltrating mast cells in our study. Based on our findings, mast cell-derived MIA might be related to the formation of pigmented regions in cutaneous mastocytosis.