获得性局限性皮肤松弛症一例

A 24-year-old woman presented with redundant skin on her face and neck for 2 years. Physical examination revealed that the loose of skin is noticeable on her face, neck and upper eyelids, resulting in a prematurely aged appearance. Fatigue test was negative. The histopathology showed the reduction in elastic fi￣bers and the abnormally distorted shapes of elastic fibers. The diagnosis of acquired localized cutis laxa was made. © 2019 Shandong Yinbao Technology Co. Ltd. All rights reserved.     

Costello综合征合并皮肤松弛症一例基因突变检测

目的 报告1例并发皮肤松弛症的Costello综合征患者,并进行分子遗传学诊断.方法 收集1例合并有皮肤松弛症的Costello综合征患者临床资料,提取该患者皮肤组织和其父母及150例无关健康对照的外周血基因组DNA,对HRAS基因所有外显子和侧翼序列测序.结果 患儿女,13月龄,生长发育迟缓,重度营养不良,面容粗糙,四肢皮肤严重松弛,皮下脂肪减少甚至消失.患儿HRAS基因第2外显子出现突变c.34G＞ T(p.Gly 12Cys),但其父母及健康对照均未检测到该位点突变.结论 HRAS基因第2外显子c.34G＞ T(p.Gly12Cys)突变可能为该例Costello综合征的致病原因.     

获得性皮肤松弛症

报告1例获得性皮肤松弛症。患者女,17岁。面颈、双腋窝及股部皮肤松弛2年。皮肤科检查:面颈、双腋窝及股部皮肤明显松弛,皱纹密集,皮沟加深,无弹性。左颈部皮损组织病理示:表皮厚度大致正常,网篮状角化,真皮浅层血管周围少量淋巴细胞浸润。弹性纤维染色示:真皮浅层弹性纤维数量明显减少、形态异常。诊断:获得性皮肤松弛症。     

获得性局限性皮肤松弛症

报告1例获得性局限性皮肤松他症。患者男,31岁。有臀部局部皮肤明显松弛、肤色加深2年,无任何自觉症状。皮损组织病理检查示弹性纤维明显减少,形态异常,有断裂。给予整形手术治疗。     

儿童Sweet综合征

报告1例儿童Sweet综合征。患儿男,7岁。因四肢疼痛性斑块伴间断性发热2个月就诊。皮肤科检查:四肢数十个大小不等、境界清楚的浸润性红斑或结节,部分红斑边缘隆起呈环状;左小腿见一10 cmx20 cm暗紫红色斑块,表面呈颗粒状,轻度水肿,浸润感明显,皮损触痛明显。血常规检查显示白细胞计数14.3×10~9/L.,中性粒细胞比例0.62,C反应蛋白29.0 mg/L,血沉67 mm/1h。皮损组织病理示真皮浅中层轻度水肿和弥漫性中性粒细胞浸润,血管壁未见纤维蛋白样坏死。结合临床、实验室检查和组织病理检查符合Sweet综合征诊断。     

Sweet syndrome with pseudocarcinomatous hyperplasia: A case report and review of the literature

Pseudocarcinomatous (pseudoepitheliomatous) hyperplasia represents reactive epidermal change mimicking squamous cell carcinoma (SCC), owing to a variety of inflammatory and neoplastic phenomena, including deep fungal infections, CD30‐positive lymphomas, and others. We report a case of Sweet syndrome (SS) arising in a patient with acute myelogenous leukemia, with persistent orolabial involvement which mimicked SCC both clinically and microscopically, but resolved entirely with adequate corticosteroid treatment. Clinicians should be aware that neutrophilic dermatoses such as SS and pyoderma gangrenosum may rarely exhibit pseudocarcinomatous epidermal changes similar to those seen in soft tissue infections and other inflammatory dermatoses.     

A rare case of Sweet syndrome secondary to melioidosis

Background

The tumor microenvironment is composed of cancer-associated fibroblasts, tumor-associated macrophages, endothelial cells, immune cells, signaling molecules and extracellular matrix structures, which closelycommunicate with the tumor via multiple mechanisms. MicroRNAs are paracrine regulators that provide a direct interaction between the microenvironment and cancer cells. In the presentstudy, we aimed to identify the microRNA expression profile in melanoma compared with thatin healthy adjacent skin, with a further assessment of altered microRNA signaling pathways and target genes.

Methods

Formalin-fixed paraffin-embedded (FFPE) melanoma tissue samples were separated by dissection into tumor and surrounding health tissue fragments. MicroRNA expression profiles were obtained by microarray using Gene Atlas Microarray System (Affymetrix, California, USA). To confirm microarray results real-time PCR was carried out. Bioinformatic analysis was performed using the DIANA-miRPath v.3.0 database. Target genes for miR-146a-5p were determined using three algorithms: TargetScan 7.0, miRWalk 2.0 and miRTarBase v.4.5.

Results

A microarray profiling revealed 143 microRNAs asdifferent in tumor versus adjacent tissues. Expression level of hsa-miR-146a-5p showedto be higher in melanoma cells as compared to thehealthy adjacent skin. The bioinformatic study has determined several signaling cascades associated with miR-146a-5p:Toll-like receptor pathway, NF-κB pathway, ErB pathway, and measles signaling pathway. The 38 target genes have been shown for miR-146a-5p of which NRAS gene is known asone of the most frequent mutated in melanoma.

Conclusions

Elucidation of the role of miR-146-a-5p in complex interactions between the tumor and the cells of healthy adjacent skin is necessary for our understanding of the mechanisms oftumor progression. Significant differences found between cancer cells and adjacent tissues in microRNA expression profile corresponding to divergent mRNA/protein levels in these structures should be taken into account when tumor samples characterization estimatedby high-throughput methods.

     

Infliximab for the treatment of recalcitrant bullous Sweet syndrome in a 10-year-old girl

We report the case of a 10-year-old girl with bullous Sweet syndrome, recalcitrant to high-dose systemic corticosteroids. Subsequent treatment with infliximab resulted in a rapid improvement in cutaneous lesions and systemic symptoms. Cutis laxa was noted in the healed skin. We propose early second-line treatment with infliximab in children with steroid-refractory Sweet syndrome.     

Acquired localized cutis laxa confined to the face: case report and review of the literature

BACKGROUND: Cutis laxa is an uncommon entity characterized by laxity of the skin, which hangs in loose folds, producing the appearance of premature aging. It can be subdivided into congenital and acquired. This latter variant is rare and the skin involvement varies from generalized to localized. We report a case of a localized acquired cutis laxa confined to the face, without preceding inflammatory lesions or systemic compromise. Four similar cases have been reported to date. The etiology remains unknown and there is no definitive treatment. METHODS: A 27-year-old White woman came to our hospital with a wrinkled face, pendulous earlobes and drop eyelids. Changes began 5 years prior, and she appeared much older than her age. RESULTS: Histological analysis and ultrastructural examination of skin biopsy revealed reduction and fragmentation of elastic fibers, confirming the diagnosis of cutis laxa. No systemic involvement was diagnosed. The patient was submitted to plastic surgery for repair, with satisfactory results to date. CONCLUSIONS: Acquired localized cutis laxa confined to the face without preceding inflammatory lesions is extremely rare. The etiology remains unknown. Clinical features and histopathologic findings confirm the diagnosis. Surgical repair seems to be the only therapeutic choice, but the results are variable and temporary.     

Sweet syndrome associated with secondary nodular syphilis in an immunocompetent patient

Sweet syndrome is an inflammatory disease characterized by fever, neutrophilia, papules and erythematous plaques, and a skin neutrophilic infiltrate. Syphilis has been reported among the infectious causes of Sweet syndrome. Syphilis can present atypical manifestations; a rare presentation is nodular syphilis, characterized by nodules with granulomas and plasma cells at histopathology. This case report presents a 20-year-old woman patient, with plaques and nodules, and systemic symptoms. The histopathological exam revealed both non-tuberculoid granulomas and a dense infiltration of polymorphonuclear neutrophils in the dermis. These findings, plus laboratory abnormalities, characteristic of both conditions, were conclusive for Sweet syndrome and nodular syphilis association.     

Cutis laxa in a patient with 1p36 deletion syndrome

Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa. This case also indicates the importance of considering chromosome abnormalities (microdeletion/microduplication syndromes) in patients presenting skin disorders combined with unexplained developmental delay, intellectual disability or multiple congenital abnormalities.     

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report

Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations in UROS in chromosome 10. Occasionally, patients show a mild, late‐onset disease, without germline UROS mutations, associated with haematological malignancies. We report a 65‐year‐old patient with photosensitivity, overexcretion of porphyrins and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possibly due to an inversion including 3q21 and 3q26 break points. After allogeneic stem‐cell transplantation, complete remission of MDS and uroporphyria was achieved. To our knowledge, this is the first reported case of acquired erythropoietic uroporphyria associated with MDS, with chromosome 3 alterations.     

Histiocytoid Sweet syndrome harboring an isocitrate dehydrogenase 1 mutation: A case report and retrospective analysis of 29 cases of histiocytoid Sweet syndrome

Histiocytoid Sweet syndrome (HSS) is a rare histopathologic variant of Sweet syndrome that demonstrates dermal and/or subcutaneous infiltrate with a prominent component of myeloid cells resembling histiocytes. It has been known to occur in association with hematologic neoplasms, including myelodysplastic syndrome (MDS) and acute myelogenous leukemia, but whether it confers an increased risk of such neoplasms is controversial. Here, we describe a case of a HSS that led to the diagnosis of MDS with an isocitrate dehydrogenase 1 (IDH‐1) mutation and a corresponding study looking for additional cases of IDH‐1 mutations in biopsies of histiocytoid and conventional Sweet syndrome.