Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities

OBJECTIVES: To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and inherited cutaneomucosal venous malformation and to test these criteria on sporadic lesions. DESIGN: Clinical data were compiled for 1685 patients with inherited or sporadic cutaneous venous anomalies. Based on a cohort of patients with a mutation in the TIE2 or glomulin gene or a histologic diagnosis, we defined clinical criteria for inherited GVM and cutaneomucosal venous malformation. We then applied these criteria to sporadic cases in a blinded manner and genetically or histologically confirmed this clinical diagnosis whenever possible. RESULTS: Glomuvenous malformations accounted for 5.1% of venous anomalies and were frequently inherited (63.8%), whereas venous malformations were rarely familial (1.2%). Glomuvenous malformations were nodular and scattered, or plaque-like and segmental, with color varying from pink to purplish dark blue, whereas most venous malformations (VMs) were soft, blue, and often localized vascular lesions. Glomuvenous malformations were mainly located on the extremities and involved skin and subcutis, whereas VMs commonly affected muscles and joints (P<.001). Glomuvenous malformations had a distinct raised, often hyperkeratotic cobblestone-like appearance and could not be completely emptied by compression, unlike VMs. Glomuvenous malformations were painful by compression, whereas VMs were painful on awakening, after activity, or with hormonal changes. Elastic compressive garments aggravated pain in GVMs, in contrast to VMs. CONCLUSIONS: This large series of patients with superficial venous anomalies established clinical features that distinguish VMs and GVMs. This differential diagnosis is essential, as the outcome and the treatment for GVMs differ.     

Psoriatic arthritis: clinical spectrum and diagnostic procedures

Psoriatic arthritis presents with a broad clinical spectrum of symptoms. Symmetrical polyarthritis with joint pain and joint swelling is one pattern of clinical manifestations that often indicates erosive progressive disease. Unlike in rheumatoid arthritis, the distal interphalangeal joints are regularly involved. Sometimes, the disease focuses on the larger joints of the lower extremities; iliosacral and intervertebral joints and tendons can also be involved. Thus, inflammatory back pain as well as any other prolonged joint pain in a patient with psoriasis is suspicious of psoriatic arthritis. This article reviews the clinical spectrum and diagnostic procedures that can lead to the diagnosis of psoriatic arthritis.     

Subcutaneous panniculitis‐like T cell lymphoma presented as erythema nodosum: A case report

Subcutaneous panniculitis‐like T cell lymphoma (SPTCL) is an extremely rare subtype of primary cutaneous T cell lymphomas mimicking panniculitis. Clinically, patients are usually presented with subcutaneous nodules, which usually leads to initial misdiagnosis as a benign cutaneous condition. Here, we report a 40‐year‐old female who presented with subcutaneous erythematous nodules on her extremities with fever. On the basis of the clinical presentations, histopathological features and immunohistochemical findings, a diagnosis of SPTCL was made. The patient was treated with the injection of recombinant human interferon α‐1b (30 μg) every other day for 3 months. The lesions gradually regressed. No new erythema nodules reappeared during the 10‐month follow‐up.     

Giant multifocal venous malformation with monomelic predominance

INTRODUCTION: Venous malformations are usually easy to recognise. We describe one case in which the clinical aspect was suggestive of Maffucci's syndrome. OBSERVATION: A 44-year-old male, had numerous angiomatous nodules which could be emptied by pressure since infancy. The progressive increase in volume of these lesions on the arms and forearms led to enormous deformation and major disability. The thoracic area and the right foot were also affected to a lesser degree. Two endobuccal lesions were also found on the clinical examination The cutaneous lesions were tender and occasionally hyperhidrosis was present. The presence of phleboliths on Xray and the presence of venous and capillary cavities with numerous thrombi confirmed the diagnosis of venous malformation. Following the failure of the Ethibloc(R) embolization, eight excisions were made in a two-year-period with a good functional result. Elastic strapping was then applied. DISCUSSION: The diagnosis of venous malformation was based on clinical, radiological and histological findings. The absence of chondroma excluded the diagnosis of Maffucci's syndrome. Spindle cell hemangioendothelioma, "blue rubber bleb nevus" and glomangiomatosis were confirmed by the histological findings. The absence of port-wine stain or bone hypertrophy and the presence of multiple nodules excluded Klippel-Trenaunay syndrome. The presence of multifocal involvement with oral lesions, the severity of the deformation and the relative success of the surgical procedure make this case unusual.     

多中心网状组织细胞增生症1例

患者女,35岁。全身红斑、丘疹、结节伴瘙瘁7个月,双手指间关节、腕关节、肘关节肿痛2个月。肌电图示左三角肌、右股二头肌肌源性损害。右前臂皮疹组织病理示：真皮可见大量组织细胞和多核巨细胞,细胞体积大,胞浆丰富、嗜酸性,均质或细颗粒状,呈“毛玻璃”样,瘤细胞Vimentin（＋）,CD68（＋）,CD163（＋）,S-100（-）,CD1a（-）。诊断：多中心网状组织细胞增生症。经“甲泼尼龙、MrD（、羟氧喹”联合治疗后皮疹和关节症状明显改善．     

Acral subcutaneous steatocystoma multiplex: A distinct subtype of the disease?

Steatocystoma multiplex (SM) is a hamartomatous malformation of the pilosebaceous duct consisting of dermal cysts filled with a sebum‐like material. SM lesions are typically located in areas with sebaceous follicles, although atypical presentations involving sites lacking sebaceous follicles have exceptionally been described. We reviewed retrospectively a series of 32 histologically diagnosed SM observed in our department in the period 2006–2010, evaluating the kinds of lesions and their locations, and family history of SM and associated disorders, to focus on the clinical features of the acral subcutaneous variety of SM and to estimate its prevalence. We found five patients (four women and one man) with asymptomatic deep, skin‐colored nodules on the flexor surfaces of distal upper extremities with a mean age at diagnosis and at disease onset of 32.5 and 26 years, respectively. The prevalence was 15%. All five cases were sporadic. The male patient had eruptive syringomas as an associated condition, together with a family history of this tumour. Acral subcutaneous SM may represent a distinct disease variety by virtue of its distinctive clinical features. Dermatologists should be aware of this form, which has to be included in the wide panel of diseases involving subcutaneous tissue.     

Acroangiodermatitis (pseudo-Kaposi sarcoma): three case reports

Acroangiodermatitis (synonym pseudo-Kaposi sarcoma) is a dermatological condition characterized by purple-colored nodules, plaques or patches, mostly on the extensor surfaces of lower extremities, usually in patients with chronic venous insufficiency and arteriovenous malformations of the legs, but also in hemodialysis patients with iatrogenic arteriovenous shunts, paralyzed limbs and amputation stumps. Acroangiodermatitis in patients with chronic venous insufficiency manifests usually as bilateral skin lesions located on the dorsa of the feet, halux and second toe, or on the medial aspect of lower legs. Acroangiodermatitis may look like Kaposi sarcoma, but in contrast to Kaposi sarcoma, acroangiodermatitis is not characterized by progression of changes, and there is a lack of spindle cells and silt-like vessels on histopathologic analysis. Three cases of acroangiodermatitis encountered in our clinical practice are described. The patients presented with livid-erythematous patches on lower legs and skin changes connected with chronic venous insufficiency, treated at the Department Phlebology Unit. Results of the histopathologic analysis indicated acroangiodermatitis. Thus, in clinical practice it is important to recognize acroangiodermatitis and to exclude Kaposi sarcoma, as sometimes there is similarity with this entity. Topical therapy with neutral and local corticosteroid preparations is often useful, however, the use of compressive bandages and dermatologic follow up are recommended.     

关节病型银屑病的临床特点与X线表现

目的：探讨银屑病性关节炎（ＰＡ）的临床特点与Ｘ线表现。方法：对３２例银屑病性关节炎的临床资料进行统计分析。结果：１８例皮损先于关节炎出现，４例皮损和关节症状同时发生，关节炎发先发育者１０例，２２例拌指趾甲损害不对称少关节炎型１４例；脊椎炎型２例，远端指（趾）关节炎型２例；对称多关节类型１３例；常跖胞疱病伴胸锁骨关节炎型１例，共３０例患者接受Ｘ线检查，２０例有ＰＡ的Ｘ线征。其中远端小关节受累１２例（     

关节病型银屑病37例临床分析

目的:探讨关节病型银屑病的临床特点。方法:对37例关节病型银屑病患者的临床资料进行回顾性分析。结果:本组病例平均发病年龄32.2岁,男:女为2.4:1。非对称性少数关节炎型最为常见,占45.9%(17例);其次为对称性多数关节炎型,占21.6%(8例),远端指(趾)关节炎型,占16.2%(6例),脊椎关节病型,占10.8%(4例)及残毁性关节炎型,占5.4%(2例)。各型银屑病皮损均可发生关节炎病变。膝关节最为常见(56.8%),其次为指(趾)关节(54.1%)及踝关节(35.1%)。在21例伴有甲病的患者中,19例患有远端指(趾)关节炎,占90.5%。3例患者尿蛋白检查阳性。X线检查常见的改变有关节间隙变窄,骨质疏松和骨质吸收等,亦可见关节骨性融合、骨刺形成和关节残毁性损害等不常见的改变。结论:非对称性多发性关节炎和远端指(趾)易受累是本病的特点,甲病变是远端指(趾)关节炎型的特征。一部分病人可伴有肾脏损害。非甾体类抗炎药、小剂量糖皮质激素、雷公藤多甙、氨苯砜、甲氨蝶呤等和中药的合理联合应用可取得一定疗效。     

Spindle cell hemangioma

A 27-year-old woman presented with multiple nodules closely grouped on her right upper distal extremity. The lesions, dating from childhood, increased slowly in time. Microscopic examination of one nodule showed the histologic features of spindle cell hemangioendothelioma (SCH). At the periphery of the nodule there were also some features of the so-called sinusoidal hemangioma. Clinically, SCH can present as a solitary lesion or as multiple lesions in zonal distribution. When the lesions are multiple, the diagnosis of Maffucci's syndrome should be considered. SCH may be interpreted as a reactive process secondary to thrombosis and recanalization occurring in angiomatous lesions with different clinical presentations. Spindle cells are probably mesenchymal cells modified by blood pressure. For this entity the term hemangioma seems to be preferable to that of hemangioendothelioma.     

Pseudoneoplastic lesion of erythema elevatum diutinum

BACKGROUND: Erythema elevatum diutinum is a rare, chronic and recurrent dermatosis affecting adults. The disease is characterized by symmetrical, red, brownish-purple, and yellow papules, plaques, and nodules distributed mainly over the extensor surfaces of the extremities. The aetiology is unknown. The condition can occur in association with haematological malignancies (30%), and most frequently with IgA monoclonal gammapathy. Histological diagnosis is sometimes difficult, especially in the late stages of the disease. We describe an unusual case of erythema elevatum diutinum with clinical and histopathological pseudoneoplastic features. CASE REPORT: A 60-year-old man with no significant medical history consulted for a large nodule of the left knee measuring 2.5cm and red-purple papules symmetrically distributed on the extensor surfaces. Surgical removal of the nodule was performed. The histologic findings were characterized by a predominant concentric fibrosis forming well-circumscribed dermal nodules, composed of small aggregates of spindle cells with palisading and lamellar patterns. Within the nodules, pycnotic polymorphonuclear leucocytes were observed. The nodules were surrounded by a lymphoplasmocytic and histiocytic infiltrate. The diagnosis of erythema elevatum diutinum was thus made and dapsone given, with partial improvement of the lesions. DISCUSSION: This case illustrates the nodular pseudoneoplastic presentation and the difficulty of histological diagnosis, since long-standing lesions can mimic connective tissue tumours. Clues for histopathological diagnosis are neutrophils scattered throughout the lesion, sometimes associated with vasculitis. Extensive investigation should be made for polymorphonuclear leucocytes that are always present, even in late fibrotic lesions.     

Pebbling of the Skin: A Marker of Hunter's Syndrome

Abstract: A 9-year-old boy, the third child of nonconsanguinous parents, presented with asymptomatic, solid, raised skin lesions over the upper back. They first appeared at the age of 4 years. Gradually similar lesions appeared over the chest, neck, arms, and thighs. On examination, he had firm, hypopigmented to skin-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were arranged bilaterally and symmetrically over the scapulae, pectoral region of the chest, and lateral aspects of the arms and thighs. They resembled sulci and gyri of the brain. He had normal intelligence, short stature, coarse facial features, thick lips, a large tongue, clear corneas, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. Investigations revealed cardiomegaly and proximal tapering of metacarpal bones. Although peripheral blood smear and urine spot test for mucopolysaccharides were negative, histopathology of a representative skin lesion was compatible with the diagnosis of Hunter's syndrome. The case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counseling.     

新疆kaposi肉瘤43例临床及病理学分析

目的：回顾性研究新疆地区发现的43例卡波西肉瘤临床病理学特点。方法：对43例kaposi肉瘤进行了光镜检查。结果：新疆卡波西肉瘤属于经典卡波西肉瘤，基本损害为斑片、斑块及结节，主要位于四肢末端。组织学以梭形细胞增生、血管瘤样结构、红细胞外溢及含铁血黄素沉积为主。结论：不同临床类型卡波西肉瘤在临床和组织学上均表现为病谱性特点，提示kaposi肉瘤可能为一种病谱性疾病。     

关节病性银屑病52例临床分析

目的：探讨关节病性银屑病的临床特点。方法：对52例关节病性银屑病患者的临床资料进行回顾性分析。结果：本组病例平均发病年龄31岁，男：女为3．7：1。以皮损为首发者45例，占87％；皮损和关节症状同时出现者2例，占4％；以关节炎为首发者5例，占10％。皮损类型为寻常性32例，占62％；红皮病性9例，占17％；急性泛发性脓疱性11例，占21％。关节炎分类为远端指(趾)关节炎23例，占44％；类风湿性关节炎样型11例，占21％；非对称性少数大关节炎10例，占19％，主要为强直性脊柱炎8例，占15％。接受x线检查的39例中，30例阳性，占77％。结论：本病男性发病多于女性．各型银屑病皮损都可伴发关节炎病变。非对称性多发性关节炎和远端指(趾)关节易受累是本病的特点。小剂量糖皮质激素、雷公藤多苷、甲氨蝶呤、非甾体类抗炎药、秋水仙碱、柳氮磺胺吡啶、阿维A等合理联合应用可取得较好疗效。     

Epithelioid sarcoma‐like (pseudomyogenic) hemangioendothelioma,clinically mimicking dermatofibroma,diagnosed by skin biopsy in a 30‐year‐old man

Epithelioid sarcoma‐like (pseudomyogenic) hemangioendothelioma (ESHE) represents a rare soft tissue and bone tumor that typically presents as nodule(s) in the distal extremities of young adults. The nodules traverse several tissue planes simultaneously and can involve the dermis, subcutis, skeletal muscle and bone. ESHE shares clinical and microscopic features with epithelioid sarcoma (ES), and, accordingly, is commonly misdiagnosed as ES. However, unlike ES, which has a poor prognosis, ESHE commonly follows an indolent course. Herein, we report a case of ESHE diagnosed by skin biopsy that clinically mimicked a dermatofibroma. We also provide clinical photographs of the lesions in various stages of development, representing information that has not been previously published, to our knowledge.     

Fibroblastic rheumatism: a case without rheumatological symptoms

Fibroblastic rheumatism is a rare syndrome characterized by the association of multiple cutaneous nodules with symmetric polyarthritis. We report on a patient who presented a 4-year history of pink to skin-coloured nodular lesions symmetrically localized at para-articular sites without evident rheumatological symptoms. Histopathology of a skin nodule led to the diagnosis of fibroblastic rheumatism showing a poorly circumscribed dermal proliferation of spindle and stellate fibroblast-like cells embedded in thickened collagen bundles with a marked reduction of elastic fibres. X-rays of both hands and feet showed metacarpophalangeal, metatarsalphalangeal and interphalangeal erosions, unexpected by patient history. This case of fibroblastic rheumatism appears unique in view of the absence of any clinical manifestation of polyarthritis at 7 years from appearance of skin lesions.     

Pachydermodactyly: case report and review of the literature

BACKGROUND: Pachydermodactyly is a benign form of digital fibromatosis usually presenting in male adolescent patients as asymptomatic nodules on the lateral aspects of the proximal interphalangeal joints of the fingers. It is commonly misdiagnosed as a juvenile rheumatologic condition. OBJECTIVE AND CONCLUSION: Recognition of the features of this disease will assist dermatologists and rheumatologists in making the diagnosis of this rare condition.     

Lobomycosis (keloidal blastomycosis): case reports and overview

Lobomycosis is a deep fungal disease of the skin without involvement of internal organs or mucous membranes. The disease is characterized by skin nodules and plaques resembling keloid involving the earlobes, distal parts of the upper and lower extremities, and buttocks. In severe cases, large skin areas can be covered by disseminated or grouped and confluent nodules. Most cases are reported from South and Central America. The fungus Paracoccidioides (Glenosporella) loboi is abundant in lesions but is extremely difficult to culture. Lobomycosis is resistant to chemotherapy, but in some cases it can successfully be treated by excision. Although the diagnosis is easily established by its typical clinical, histologic, and microbiological features, it is often misdiagnosed by physicians not familiar with the disease. We describe here five patients and present an overview of this rare disease.     

Unsatisfactory response to sirolimus in Maffucci syndrome‐associated spindle cell hemangiomas

Maffucci syndrome is characterized by multiple benign vascular anomalies and enchondromas present on the distal extremities. Effective treatment options are currently not available for Maffucci syndrome‐associated vascular lesions. Sirolimus is a mTOR pathway inhibitor, and has been tried successfully in the treatment of various vascular anomalies. We treated a 23‐year‐old female with Maffucci syndrome‐associated spindle cell hemangiomas with oral sirolimus (2mg/day, 0.04mg/kg/day). There was improvement in pain, but no change in colour or size of the vascular nodules. In view of unsatisfactory response and treatment‐related adverse effects (oral aphthae, mild transaminitis), sirolimus was stopped after 6 months.     

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.