S-100阳性泛发性幼年黄色肉芽肿一例并文献复习

报道1例S-100阳性泛发性幼年黄色肉芽肿患儿并对相关文献进行复习。患儿,男,6个月,面部、躯干、四肢起疹3个月余。组织病理示：表皮基本正常,真皮内可见团块状结节性浸润,浸润细胞主要为泡沫样组织细胞,梭形组织样细胞,并可见Touton巨细胞。免疫组化：泡沫样组织细胞及梭形组织样细胞CD68(+),S-100(+),CD1a(-),Langerin（-）;电镜检查示：未见Birbeck颗粒。诊断：泛发性黄色肉芽肿。     

进行性结节性组织细胞瘤1例

患者男,20岁。全身弥漫性黄瘤样皮疹、结节6年余。皮肤科情况:全身弥漫性、对称性分布圆形、光滑的黄褐色丘疹、结节,丘疹直径2～8mm,结节直径7～40mm,口腔黏膜、生殖器部位可见数个类似皮损。皮损组织病理:病灶浸润真皮全层,细胞团灶状排列,可见泡沫细胞团,组织细胞及Touton样多核巨细胞,周边有圆形细胞浸润及成纤维细胞免疫组化CD68(+),S-100(-)。诊断:进行性结节性组织细胞瘤。     

不典型结节性黄瘤一例

患者,女,56岁。右腹股沟、骶部丘疹和肿块32年。皮肤组织病理：组织细胞及泡沫样细胞浸润,较多多核巨细胞及不典型Touton细胞散在其中。免疫组化染色示浸润细胞表达CD68-PGM1、CD68-KP1和CD163。诊断：结节性黄瘤。给予手术及降脂治疗。     

肉芽肿性蕈样肉芽肿

报告1例肉芽肿性蕈样肉芽肿。患者男,41岁。因全身起红斑、丘疹、结节6年,左侧眉毛脱落2个月就诊。皮损组织病理检查:表皮大致正常,真皮内可见大量淋巴细胞、组织细胞、多核巨细胞浸润,部分淋巴细胞核有异形。免疫组化染色示:淋巴细胞CD3、CD5、CD4阳性,组织细胞及多核巨细胞CD68阳性。结合临床和组织病理表现,诊断为肉芽肿性蕈样肉芽肿。     

32例幼年黄色肉芽肿临床与病理分析

 目的:归纳总结幼年黄色肉芽肿的临床及组织病理特点。方法:回顾性分析2011年12月-2019年12月我院确诊的32例幼年黄色肉芽肿患儿的临床资料和组织病理学检查结果。结果:32例患儿皮损多表现为头面部、躯干、四肢黄色或黄褐色丘疹、结节,也可表现为红色或暗红色,有1例伴皮肤外症状。皮损组织病理特点可分为3种类型：早期（占12.50%）,可见大量组织细胞浸润,散在多核巨细胞、淋巴细胞、少量嗜酸性细胞浸润;成熟期（占78.12%）,可见典型泡沫细胞、多核巨细胞及Touton巨细胞;消退期（占9.38%）,可见梭形细胞,少许组织细胞及多核巨细胞。免疫组化结果为CD68（+）、CD1a（-）、Langerin（-）及S-100（-）。结论:临床上根据典型皮损特点及病理表现一般可诊断幼年黄色肉芽肿,但临床上有必要行病理检查以帮助减少误诊率。     

环状弹性纤维溶解性巨细胞肉芽肿

报告1例环状弹性纤维溶解性巨细胞肉芽肿。患者男,59岁。躯干、四肢起红色丘疹和环状斑块4年余,加重1年。皮损组织病理检查示真皮浅中层可见散在分布较多淋巴细胞、组织细胞、上皮样细胞和局部群集的多核巨细胞浸润。阿辛蓝染色阴性。弹性纤维染色示真皮浅中层弹性纤维明显减少、缺失,部分多核巨细胞内可见吞噬的弹性纤维。结合临床、组织病理、阿辛蓝染色和弹性纤维染色,诊断为环状弹性纤维溶解性巨细胞肉芽肿。临床上,该病需与环状肉芽肿和光化性肉芽肿鉴别。     

进行性结节性组织细胞增生症

报告1例进行性结节性组织细胞增生症。患者女,22岁。全身皮肤丘疹和结节6年,皮损进行增多和增大,无自行消退倾向,血脂正常范围,皮损组织病理改变符合梭形细胞性黄色肉芽肿。临床表现结合组织病理改变诊断进行性结节性组织细胞增生症。复习英文文献,至今共有18例报道,该例显著特点是出现黏膜及眼睛受累,免疫组化S-100蛋白阳性在进行性结节性组织细胞增生症中较为少见。     

网状组织细胞肉芽肿

报告1例网状组织细胞肉芽肿。患者男,35岁。左侧面部淡红色丘疹2个月。皮损组织病理检查示真皮上部可见形状不规则的组织细胞、多核巨细胞、淋巴细胞,以及少量嗜酸性粒细胞和中性粒细胞。组织细胞和多核巨细胞的胞质内含有染色较淡、均匀一致的嗜伊红细颗粒状物质,使胞质呈“毛玻璃”样外观。组织病理诊断：网状组织细胞肉芽肿。     

恶性纤维组织细胞瘤1例

恶性纤维组织细胞瘤为一种罕见病,多误诊为不典型纤维黄色瘤或上皮样肉瘤。患者男,67岁。因左大腿内侧结节3月,进行性增大1月就诊。皮损组织病理检查示:肿瘤中成分呈多形性表现,部分细胞似成纤维细胞样交织排列呈漩涡状;有些细胞似组织细胞样,可见形状怪异的多核巨细胞。免疫组化:Vim(+)、CD163(+)、CD68(+)、CD34血管(+)、Ki-67 index 30%。     

颜面播散性粟粒性狼疮一例

患者,女,40岁。面部丘疹3年余,以眶周为主,逐渐增多、增大。无明显自觉症状。组织病理示：表皮萎缩变薄,皮突消失变平,真皮浅层可见结核结构,中央可见干酪样坏死,周边可见淋巴细胞、组织细胞、上皮样细胞及多核巨细胞。诊断：颜面播散性粟粒性狼疮。     

Indeterminate cell histiocytosis in a Chinese patient with progressive and extensive nodular lesions and mixed indeterminate cell and macrophage‐monocyte lineage

Indeterminate cell histiocytosis (ICH) is an extremely rare cutaneous neoplastic disorder. It has the immunophenotypic features of both Langerhans and non‐Langerhans cell histiocytosis. We report here a case of a healthy young Chinese woman who presented with disfiguring, thick, infiltrated cutaneous nodules on the face, trunk and extremities which appeared progressively over a period of 4 years. No systemic involvement has been detected so far. Results of a skin biopsy showed diffuse dermal infiltration of histiocytoid cells with indented nuclei and positive staining for S100 and CD1a and negativity for CD207 (langerin). Admixed within were some CD68‐positive foamy histiocytes and multinucleated giant cells with focal expression of CD163. Although the clinical presentation is more typical of progressive nodular histiocytosis, the histology and immunoprofile is consistent with ICH. Our report adds to the limited case reports in the current literature of ICH in the Chinese population.     

Segmental Juvenile Xanthogranuloma

A 5‐month‐old boy had erythematous nodules over the left side of his trunk with a segmental arrangement since birth. Histopathologic examination revealed sheets of foamy histiocytes infiltrating the dermis and subcutaneous fat, admixed with multinucleated giant cells and lymphocytes, making this an unusual case of juvenile xanthogranuloma appearing in a segmental distribution.     

Metastatic aneurysmal fibrous histiocytoma in a 20-year-old woman: A rare case report with review of the literature and discussion of its genomic features

Aneurysmal fibrous histiocytoma is an uncommon variant of cutaneous fibrous histiocytomas with a local recurrence rate of 19%. We present a case of aneurysmal fibrous histiocytoma in a 20-year-old female with a regional lymph node metastasis and subsequent satellite nodule. The patient initially presented with a 1-month history of two palpable nodules in left lower anterior shoulder and left axilla. Needle core biopsies from both lesions revealed an atypical spindle cell neoplasm with a differential diagnosis of aneurysmal fibrous histiocytoma and angiomatoid fibrous histiocytoma. The axillary dissection confirmed a metastatic deposit in 1 out of 22 lymph nodes. At 6 months a satellite nodule arose between the resection scar and the axilla histopathologically demonstrating a cellular spindle cell nodule at the dermis subcutaneous junction with large, blood-filled pseudovascular spaces lined by histiocytes. The periphery of the lesion showed collagen trapping without a lymphoplasmacytic infiltrate. The lesional cells were diffusely positive for CD10 and focally for CD68 and Illumina RNA fusion panel sequencing was negative. Herein we present this case of metastatic aneurysmal fibrous histiocytoma with review of the literature and discussion of biology, cytogenetic alterations, and differential diagnosis.     

Benign cellular fibrous histiocytoma with erosion of the phalanx

Fibrohistiocytic tumors are characterized by the presence of fibroblast like spindle cells and histiocytes. The benign fibrous histiocytoma (dermatofibroma, BFH) as well as the malignant dermatofibrosarcoma protuberans (DFSP) and the malignant fibrous histiocytoma (MFH) belong to this group. A recurrent painful, hard 2 cm tumor on the left hallux of a 54-year-old woman led to an erosion of the underlying phalanx. The patient had suffered from ingrown toenails for more than 10 years. Histologically there was a deep penetrating fibrohistiocytic tumor that grew in a storiform pattern with interspersed foam cells. The tumor was CD34 negative and mitoses were scarce. The diagnosis was benign cellular fibrous histiocytoma (BZFH). BZFH belong to the group of BFH with a high recurrence rate especially after incomplete removal. Damage to the underlying bone has not been reported so far.     

Cutaneous sinus histiocytosis (Rosai-Dorfman disease) presenting clinically as vasculitis

The cutaneous variant of Rosai-Dorfman disease is a rare benign lymphoproliferative disorder that occurs without lymphadenopathy or internal organ involvement. We present a 55-year-old woman with a diffuse exanthematous eruption that evolved into pruritic papulopetechial and purpuric lesions on the back and lower extremities, diagnosed clinically as a vasculitis. The patient's lesions cleared spontaneously with no recurrence. Histopathologic examination showed a dense dermal nodular lymphohistiocytic infiltrate with occasional eosinophils, plasma cells, and neutrophils and with numerous extravasated red blood cells. The large, foamy histiocytes exhibited abundant pale cytoplasm, feathery cytoplasmic borders, and emperipolesis. A few histiocytes had longitudinal nuclear grooves resembling Langerhans cells; however, these cells were positive for S-100 protein and negative for CD1a. The clinical presentation of the cutaneous variant of Rosai-Dorfman disease is generally nonspecific. We present this case because of the unusual clinical presentation mimicking a vasculitis.     

Myofibroblasts in malignant fibrous histiocytoma-histochemical, immunohistochemical, ultrastructural and tissue culture studies

Spindle cells found in malignant fibrous histiocytoma (MFH) were examined using histochemical, immunohistochemical, ultrastructural and tissue culture studies. They were deeply eosinophilic on haematoxylin-eosin staining, strongly PAS-positive and darkly stained with nicotinamide adenine dinucleotide tetrazolium reductase and menadione linked 2-glycerophosphate dehydroge-nase. They also labelled with anti-S-100 and actin antibodies. Fuchsin positive intra-cytoplasmic filaments were recognizable with phosphotungstic acid haematox-ylin stains. Ultrastructurally, the spindle cells had an indented nucleus and elongated cytoplasm containing myofilaments with electron dense bodies. In tissue culture, the spindle cells had plump cytoplasm and were closely apposed to each other within a sheath of fibro-blasts. Using electron microscopy the cultured spindle cells were found to contain numerous glycogen particles, rod-shaped mitochondria, rough endoplasmic reticulum and bundles of myofilaments within the cytoplasm. The spindle cells were identified as ‘myofibroblasts’ and the presence of myofibroblasts in MFH was thus confirmed. The function of myofibroblasts in malignant fibrous histiocytoma is discussed.     

POEMS syndrome with xanthomatous cells. Polyneuropathy Organomegaly Endocrinopathy M-protein Skin changes

A diffuse xanthomatous infiltration was detected on a biopsy of the hyperpigmented patches in a 40-year-old man with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, Skin changes) syndrome. Multiple biopsies of the hyperpigmented patches showed diffuse or perivascular foamy histiocytes in the upper and mid dermis, a sparse infiltrate of lymphocytes, fibrosis, hyperpigmentation of the basal layer, and capillary proliferation. The foamy cells were positive for periodic acid-Schiff (PAS) with diastase, oil red-O, and CD68. To our knowledge, this is the first case with foamy histiocytes without xanthomatous-appearing skin lesions in POEMS syndrome. It would be worth searching for xanthomatous histiocytes in the hyperpigmented skin of patients with POEMS syndrome.     

Progressive nodular histiocytoma associated with thrombocytopenia with absent radii (TAR syndrome) and angiofibromas

A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her nose, which were diagnosed histologically as angiofibromas. The patient had congenital phocomelia. Analytical and imaging studies revealed the presence of bilateral phocomelia due to absent radii and thrombocytopenia (TAR syndrome). Multiple histiocytomas in a normolipaemic patient bring up several differential diagnoses. Slow progressive evolution without spontaneous resolution and a scattered distribution on the trunk and extremities suggest the diagnosis of progressive nodular histiocytoma. To our knowledge progressive nodular histiocytoma has not been reported previously associated either with TAR syndrome or with angiofibromas. These entities are uncommon, thus their association may not be due to chance.     

Diffuse dermal histiocytosis. A variant of generalized granuloma annulare

A young man had asymptomatic, confluent, annular erythematous/violaceous plaques on the trunk and extremities. Pathology showed a moderately dense dermal infiltrate of spindle cells characterized as non-X histiocytes by immunohistology and ultrastructural analysis. We believe this is an unusual form of diffuse histiocytosis and should be classified as a variant of generalized granuloma annulare.     

Histiocytic disorders with spontaneous regression in infancy

The histiocytic disorders are uncommon, have a wide spectrum, and are poorly understood. We describe seven cases developing in infancy, seen during a period of 9 years at Asan Medical Center, Seoul, Korea. Clinically the patients had multiple papules over the face, trunk, and extremities that developed at birth or during infancy. Histopathologic examinations revealed an infiltrate of many histiocytic cells in the upper dermis with or without epidermotropism. Four cases were classified as congenital self-healing reticulohistiocytosis in that the histiocytes were identified as Langerhans cells by positive immunohistochemical staining for S-100 protein, ultrastructural studies showing many Birbeck granules, and spontaneous regression of the lesions within 1-4 months. One infant with a solitary lesion on the forehead was diagnosed as solitary, congenital, indeterminate cell histiocytoma because the histiocytic cells were S-100 protein positive, but meticulous ultrastructural studies did not detect Birbeck granules. The lesion was removed by shave excision. Two cases were classified as generalized eruptive histiocytoma. The histiocytic cells were S-100 protein negative and ultrastructurally Birbeck granules were absent. In one patient, eyeball- or popcornlike lysosomal structures were seen. The lesions regressed completely.