A case of bronchopulmonary sequestration combined with congenital pulmonary airway malformation prenatally diagnosed as having two aberrant arteries originating from the celiac artery.

We report a case of BPS combined with CPAM prenatally diagnosed as having two aberrant arteries from the celiac artery by fetal 3D-US. Although the pattern of arterial feeding vessels was extremely rare in our case, the vasculature images obtained using fetal 3D-US were comparable to those obtained using postnatal CT angiography.

Prenatal aortic arch development in double aortic arch: Understanding postnatal closure of left aortic arch: A case report.

Double aortic arch (DAA) is a rare congenital abnormality characterized by a vascular ring that often requires surgical intervention due to respiratory complications. The DAA and right aortic arch with mirror-image branches (RAA-MB) represent abnormalities in development of the aortic arch. However, prognosis differs significantly, as the DAA forms vascular rings, whereas the RAA-MB typically does not. Distinguishing between the conditions becomes particularly challenging in cases of DAA with closure of the posterior portion of the left aortic arch (LAA) because the postnatal manifestations closely resemble those of RAA-MB. Herein, we present a case of DAA in which longitudinal observation of the LAA and RAA diameters during pregnancy aimed in predicting postnatal closure of the LAA. A 37-year-old female with suspected DAA was referred to our hospital at 26 weeks of gestation. Initial measurements revealed comparable diameters for the LAA and RAA; however, the LAA diameter decreased to approximately half that of the RAA by term owing to growth restrictions. Postnatal contrast computed tomography confirmed the closure of the posterior portion of the LAA and RAA with Kommerell diverticulum. Our findings suggest that careful monitoring of DAA throughout fetal development, especially during the third trimester, may aid in predicting atretic changes in the nondominant arch after birth, allowing an easy distinction between the DAA and RAA-MB after birth.

Prenatal features of congenital peribronchial myofibroblastic tumor.

Here, we report a case of a congenital peribronchial myofibroblastic tumor (CPMT). A 34-year-old primigravida was referred to our hospital at 31 gestation weeks because of suspected congenital pulmonary airway malformation (CPAM). Fetal ultrasonography showed a mass measuring 4.6 × 4.0 × 3.9 cm with mixed high and low echogenicity in the left lung, which was associated with microvascular blood flow in the tumor. Fetal magnetic resonance imaging (MRI) revealed a low-intensity left lobe lung lesion on a T2-weighted image. These findings suggested that the mass was a CPAM with atypical hypointense findings on MRI T2-weighted images or a rare primary pulmonary tumor, such as a CPMT. Unfortunately, the fetus died in utero at 34 gestation weeks due to cardiovascular failure, which could have resulted from direct encasement of the great vessels or cardiac compression due to rapid tumor growth. The autopsy findings confirmed the diagnosis of CPMT. Primary pulmonary tumors, such as CPMT, are extremely rare lung diseases that develop in utero. These tumors often rapidly grow during pregnancy, resulting in intrauterine fetal death. However, if the patient survives surgical mass resection, the prognosis is good. Given the adverse outcomes observed in our case, careful fetal monitoring is required in case of suspected CPMT during the third trimester of pregnancy. Moreover, in case the well-being of the fetus cannot be assured, immediate delivery should be considered, even in the preterm period, followed by surgery.

Eccrine Angiomatous Hamartoma Occurring on the Nail Bed.

A 71-year-old woman was referred to our clinic with a 2-month history of pain and exudate from her right first toe. Physical examination revealed a subungual nodule that elevated the nail plate and produced distal onycholysis. We performed onychectomy and removed the nodule. A histopathological specimen from the nodule showed hyperkeratosis and acanthosis in the epidermis, papillomatosis and dilated vessels in the superficial dermis, and aggregation of eccrine glands in the mid-dermis. Based on these findings, a diagnosis of eccrine angiomatous hamartoma (EAH) was made. EAH is a rare cutaneous hamartoma that is histologically characterized by proliferation of eccrine glands and vascular components. To our knowledge, EAH occurring in the subungual region has not been reported. The pathogenesis of acquired EAH has not been completely elucidated, but several cases have been reported to be caused by external stimuli. Although the subungual area generally has no sweat glands, our case suggests that a traumatic stimulus can induce EAH anywhere including regions where sweat glands are normally not found.

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.

Ultrastructural and morphological analysis during progression of Bowen disease reveals a complex interplay between hyperkeratosis, cytokeratin expression, host immunity and amyloid deposition.

BACKGROUND: Bowen disease, one of the common skin cancers, is defined as squamous cell carcinoma in situ, characterized by atypical keratinocytes occupying the full thickness of the epidermis, and predominantly occurs on sun-protected skin. There is no existing data on the impact of tumour and immune cell interactions or cytokeratin expression on the pathology of Bowen disease. OBJECTIVES: We analysed dynamic changes in cytokeratin expression and immune cell composition during the development and progression of Bowen disease. MATERIALS & METHODS: Analysis was performed using immunohistochemistry and electron microscopy for samples from 140 patients with Bowen disease and 20 patients with invasive squamous cell carcinoma. We evaluated cytokeratin expression, the number of infiltrating immune cells and amyloid deposition by immunohistochemistry, and the ultrastructural relationship between tumour cells and immune cells by electron microscopy. RESULTS: The results showed that the expression of CK14 is associated with tumour progression, keratotic status and amyloid deposition and that the expression of CK10 is associated with accumulation of immune cells in Bowen disease. The findings of electron microscopy indicated repeated battles involving immune cells in response to tumour invasion. CONCLUSION: The expression of cytokeratins, hyperkeratosis, inflammatory infiltration and amyloid deposition are useful findings indicating the "stage" in Bowen disease.

Gorlin Syndrome and Cowden Syndrome.

Gorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1) in Gorlin syndrome and mutation in the phosphatase and tensin homolog deleted from chromosome 10 (PTEN) gene in Cowden syndrome. Making a diagnosis of these diseases in the early years of life is important because detection of malignancies at an early stage is linked to improved prognosis. Both Gorlin syndrome and Cowden syndrome have cutaneous findings in the early phase in childhood, and the role of dermatologists is therefore important. These diseases are generally diagnosed by clinical criteria, but some patients who do not meet the criteria need genetic examinations including a genetic diagnostic panel and next-generation sequencing. The most important treatment and management are detection and resection of malignancies in the early stage, and targeted therapies have recently been used for treatment of tumors and other symptoms in these diseases. Although evidence of the effectiveness of targeted therapies has been limited, they are promising therapeutic options and further clinical trials are needed in the future.

An 11-Beta Hydroxysteroid Dehydrogenase Type 1 Inhibitor, JTT-654 Ameliorates Insulin Resistance and Non-obese Type 2 Diabetes.

11ß-Hydroxysteroid dehydrogenase type 1 (11ß-HSD1) is the only enzyme that converts inactive glucocorticoids to active forms and plays an important role in the regulation of glucocorticoid action in target tissues. JTT-654 is a selective 11ß-HSD1 inhibitor and we investigated its pharmacological properties in cortisone-treated rats and non-obese type 2 diabetic Goto-Kakizaki (GK) rats because Asians, including Japanese, are more likely to have non-obese type 2 diabetics. Systemic cortisone treatment increased fasting plasma glucose and insulin levels and impaired insulin action on glucose disposal rate and hepatic glucose production assessed by hyperinsulinemic-euglycemic clamp, but all these effects were attenuated by JTT-654 administration. Cortisone treatment also reduced basal and insulin-stimulated glucose oxidation in adipose tissue, increased plasma glucose levels after administration of the pyruvate, the substrate of gluconeogenesis, and increased liver glycogen content. Administration of JTT-654 also inhibited all of these effects. Cortisone treatment decreased basal and insulin-stimulated 2-deoxy-D-[1-3H]-glucose uptake in 3T3-L1 adipocytes and increased the release of free fatty acids and glycerol, a gluconeogenic substrate, from 3T3-L1 adipocytes, and JTT-654 significantly attenuated these effects. In GK rats, JTT-654 treatment significantly reduced fasting plasma glucose and insulin levels, enhanced insulin-stimulated glucose oxidation in adipose tissue, and suppressed hepatic gluconeogenesis as assessed by pyruvate administration. These results demonstrated that glucocorticoid was involved in the pathology of diabetes in GK rats, as in cortisone-treated rats, and that JTT-654 ameliorated the diabetic conditions. Our results suggest that JTT-654 ameliorates insulin resistance and non-obese type 2 diabetes by inhibiting adipose tissue and liver 11ß-HSD1.

Immunosuppressive therapy before and during pregnancy may improve obstetric outcomes in pregnancy complicated by dermatomyositis with anti-MDA-5 antibody positivity: A case report.

Dermatomyositis (DM) is one of the most common autoimmune rheumatic diseases affecting women of childbearing age. Pregnancy may lead to exacerbation of DM, especially of DM with anti-melanoma differentiation-associated gene (MDA) 5 antibody positivity, leading to a poor obstetric outcome. Here, we report consecutive pregnancies complicated by DM with anti-MDA-5 antibodies. A 32-year-old pregnant woman, gravida 3 para 1, presented with fetal growth restriction. Emergency cesarean section was performed because of non-reassuring fetal status at 28 weeks of gestation. Two days postpartum, the patient's hand eczema had worsened and she was diagnosed with DM with MDA-5 antibody positivity. Immunosuppressive therapy using corticosteroids combined with tacrolimus was immediately started, suppressing the DM symptoms. Eighteen months later, she became pregnant again but was then negative for anti-MDA-5 antibodies while continuing immunosuppressive therapy. During pregnancy, the titer of the antibody gradually increased, peaked in the second trimester and declined to near normal range through the third trimester. A male infant weighing 2418 g was delivered at 38 weeks of gestation. Our case demonstrates that controlling of DM activity using immunosuppressive treatment before and during pregnancy may be beneficial to obstetric outcomes.

Bullous Pemphigoid in X-linked Alport Syndrome.

Skin lesions in X-linked Alport syndrome (XLAS) are rarely observed. Bullous pemphigoid (BP) is caused by autoantibodies against BP180, also called α1 (XVII) chain, in the basement membrane zone (BMZ). A 48-year-old man with XLAS developed tense blisters. A skin biopsy showed a cleft between the basal cell layer and dermis, with the infiltration of neutrophils and eosinophils. α1 (XVII) staining was positive on the epidermal side of α2/5 (IV) staining. Oral prednisolone improved his symptoms gradually. Abundant tense blisters on the palms and soles might suggest an important role of the α5 (IV) chain in the integrity of BMZ.

The Symptomatic Calcification and Ossification of the Ligamentum Flavum in the Spine: Our Experience and Review of the Literature.

INTRODUCTION: We report our experience regarding the clinical features and pathological findings of the calcification of the ligamentum flavum (CLF) and ossification of the ligamentum flavum (OLF) in the spine. In addition, we reviewed the previous studies on CLF and OLF to enhance the understanding of these conditions. MATERIALS AND METHODS: We compared the clinical, radiological, and histopathological features of CLF and OLF. RESULTS: In CLF, a computed tomography (CT) scan showed egg-shaped or speck-like calcification in the ligamentum flavum. Magnetic resonance (MR) imaging demonstrated spinal cord compression due to a thickened ligamentum flavum, which appeared as a low-intensity mass. Pathological findings demonstrated fused islands of calcification resembling sand-like calcification. In OLF, CT showed beak-like ossification extending into the intervertebral foramen. MR imaging demonstrated spinal cord compression by a low-intensity mass. Pathological findings revealed laminar ossification of LF with chondrocytes near the calcification and laminar hyaline cartilage. CONCLUSIONS: CLF and OLF appear to be distinct entities based on their clinical, neuroradiological, histopathological, and pathogenetic features. We suggest that the causes of CLF include both metabolic and dystrophic factors, while the pathogenesis of OLF is characterized by enchondral ossification induced by a genetic cascade triggered by shearing/tension stress.

Treatment Strategy for Pyoderma Gangrenosum: Skin Grafting with Immunosuppressive Drugs.

Pyoderma gangrenosum (PG) is a relatively rare neutrophilic dermatosis presenting as a rapidly progressive and painful skin ulcer characterized by undermined borders and peripheral erythema. Immunosuppressive therapy is the first-line treatment for PG; however, large ulcers often take months or years to heal. Surgical treatments, such as negative pressure wound therapy (NPWT) and skin grafting, are still controversial due to the risk of inducing the pathergy phenomenon and eliciting PG development by traumatic factors. Herein, we report on four cases of PG treated with skin grafting, with or without NPWT, under the control of immunosuppressive drugs at our institution. All cases adapted well, but one case showed recurrence at the periphery of the grafted area five months postoperatively. The current patients were treated with the following doses of oral prednisolone (PSL): PSL 10 mg daily, PSL 5 mg daily + adalimumab 40 mg/week, PSL 12 mg + 6 mg of tacrolimus daily, and PSL 20 mg daily during skin grafting. No severe complications, including infections, were observed. Surgical treatments, such as skin grafting with or without NPWT, may accelerate wound healing, shorten the administration of analgesics and long-term immunosuppressive therapy, and reduce the risk of infection.