Characteristic appearance of spindle cell hemangiomatosis,often misdiagnosed as venous malformation: A retrospective study of 11 cases

Spindle cell hemangiomatosis is a benign multifocal vascular proliferation that mostly occurs in the distal extremities. It is a relatively rare disease and causes difficulties in clinical diagnosis and differential diagnosis of venous malformation. We retrospectively assessed the medical history, and clinical features, imaging features, pathological features and follow up of 11 patients diagnosed pathologically with spindle cell hemangiomatosis after surgery. There are two types of clinical appearances in spindle cell hemangiomatosis in the distal extremities: bleb-like nodules and varix-like nodules. Bleb-like nodules are mostly superficially located in the palm or interphalangeal joints with obvious hemorrhage in lesions and mainly composed of cavernous spaces rather than spindle cells. Varix-like nodules are located in the back of the hands or arms with normal skin color and mainly composed of solid areas of accumulated spindle cells. Surgery is the standard therapy for spindle cell hemangiomatosis, while sclerotherapy is invalid. Despite the tendency to develop new lesions, there are no residual lesions at the surgical site during follow up. Bleb-like nodules in the palm and interphalangeal joints are a typical clinical appearance in spindle cell hemangiomatosis which can help make clinical and a differential diagnosis of venous malformation. Surgery is the standard therapy for spindle cell hemangiomatosis with no residual lesions remaining at the surgical sites.     

Cutaneous manifestations of Takayasu arteritis. A retrospective study of 80 cases

The aim of this retrospective study is to delineate in Europe the frequency and type of cutaneous manifestations associated with Takayasu arteritis (TA). Eighty patients with TA were analyzed. Symptoms suggestive of Raynaud's syndrome were noted in 11 patients (14%) and could be directly related to large vessel involvement. Other skin lesions were observed in 10 patients (12.5%). Five had acute tender erythematous nodules on the legs with a clinical diagnosis of erythema nodosum; 2 had subacute ulcerated nodules of the legs; 1 had pyoderma-gangrenosum-like ulcerations of the four limbs which resulted from the breakdown of subcutaneous nodules; 1 had lupus-like malar flush, and the last one had urticarial lesions with livedo reticularis. Skin samples were obtained from 4 patients. Three of them agreed that reiterated biopsies be done on recurrent lesions. A granulomatous vasculitis was observed in 2 cases involving hypodermal arterioles in one case and veins in the other. The other pathological findings were septal and lobular panniculitis which can be associated with granulomatous vasculitis. Different histological findings on reiterated biopsies were frequently found. The absence of any other etiology and chronological arguments suggested a relationship between these skin lesions and TA. Tuberculosis was probable in 1 case but apparently was not related to the skin lesions.     

Non-Hodgkin's lymphoma of low-grade malignancy, to some extent mimicking glomus tumors

Reddish-blue nodules were found on the tips of some of the toes of a 62-year-old woman. These nodules were painful when pressure was applied The clinical appearance of the efflorescence was most similar to that of glomangiomas. In addition, a lesion was observed on her lip that was suspected of being a lymphoma. The histological and immunohistological findings for all the lesions were consistent with the diagnosis of a non-Hodgkin lymphoma of low-grade malignancy. Consequently, a detailed internal medical examination was performed: biopsy specimens of the gastrointestinal mucosa revealed the presence of an immunocytoma. The significance of the immunohistological differentiation of lymphocyte subclasses by monoclonal antibodies for the diagnosis of lymphoma is demonstrated.     

Maffucci's syndrome with extensive gastrointestinal involvement

A 10-year-old girl with cutaneous, oral and gastrointestinal vascular lesions was referred for consideration of laser treatment of her skin lesions. She was noted to have multiple venous malformations predominantly affecting the hands and feet, some of which had been present from birth. Her right hand was deformed by multiple venous malformations, and X-rays of this hand revealed enchondromata within metacarpal and phalangeal bones. She was known to have extensive involvement of her gastrointestinal tract by venous malformations, resulting in refractory iron-deficiency anaemia. In view of the multiple cutaneous and gastrointestinal vascular lesions, a diagnosis of blue rubber bleb naevus syndrome had been made many years earlier. However, after recognition of the characteristic enchondromata, this diagnosis has been revised to Maffucci's syndrome. In addition to her ongoing dermatological and paediatric follow up, she has now been referred to the orthopaedic surgeons for surveillance of her skeletal lesions.     

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.     

Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis

There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.     

Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment

At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions.     

Pseudo-Kaposi's sarcoma secondary to superficial arteriovenous malformation: Stewart-Bluefarb syndrome

BACKGROUND: Pseudo-Kaposi's sarcoma or Stewart-Bluefarb subtype acroangiodermatitis is uncommon and is caused by arteriovenous fistula and malformation. We report a new case. CASE REPORT: A 33-year-old man presented with painful red-violet plaque on the dorsum of the toes with angiomatous nodules on the sole. Histological and immunohistochemical studies for CD34 were consistent with Kaposi's sarcoma. Doppler ultrasonography and femoral angiography showed multiple distal arteriovenous shunts. Free-flow embolisation with fragments of Ethibloc gelatin sponge was performed and arteriography, performed immediately afterwards, showed delayed venous drainage. The outcome was good with complete drainage of the angiomatous lesions. DISCUSSION: Pseudo-Kaposi's sarcoma Stewart-Bluefarb subtype begins early in life in male subjects, with unilateral skin lesions. It bears clinical and histological resemblance to Kaposi's sarcoma. Doppler ultrasonography and angiography show arteriovenous fistulas that classically develop at shunts, explaining the role of traumatism and high vascular pressure in the genesis of this disease.     

Localized multiple glomangiomas on the foot

We report a 15-year-old Japanese male with multiple, soft, blue and painless nodules on the left foot. The lesions had developed when the boy was 3 years old, and had enlarged gradually thereafter. None of his family members had any similar eruptions. All the lesions were resected under local anesthesia. Histological examination revealed cystically dilated spaces lined by endothelial cells and a few outer layers of glomus cells in the dermis and fat tissue. Immunohistochemistry demonstrated that the tumor cells were positive for α-smooth muscle actin. We diagnosed this case as localized multiple glomangioma. Multiple glomus tumors are much less common than solitary ones, and localized multiple glomus tumors are extremely rare. Because the clinical differential diagnosis of multiple glomangiomas includes common venous malformation, particularly blue rubber bleb nevus syndrome, histopathological studies should be performed.     

Erdheim-Chester disease

A 38-year-old man presented with numerous dermal nodules, similar to xanthoma disseminatum, that were histologically consistent with his diagnosis of Erdheim-Chester disease, a non-Langerhans cell histiocytosis. Other cutaneous manifestations of this disease include eyelid xanthelasma, pretibial dermopathy and pigmented lesions of the lips and buccal mucosa. The histological diagnosis of Erdheim-Chester disease was originally made on the patient's retroperitoneal tissue, obtained at a laparotomy for surgical treatment of a presumed phaeochromocytoma, and confirmed by the pathognomonic long bone X-ray findings of this disease.     

Maffucci'S syndrome associated with hyperparathyroidism

Maffucci's syndrome is a rare, congenital, nonhereditary, mesodermal dysplastic disease characterized by venous malformations and benign cartilaginous tumors. The occurrence of endocrine tumors in Maffucci's syndrome is very rare. We report a case of Maffucci's syndrome associated with hyperparathyroidism and multinodular goiter.     

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.     

RASA1 mutation in a family with capillary malformation–arteriovenous malformation syndrome: A discussion of the differential diagnosis

We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation–arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation–arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast‐flow lesions, and genetic analysis.     

Facial "glomangiomas": large facial venous malformations with glomus cells.

BACKGROUND: "Glomangiomas" are benign cutaneous vascular lesions consisting of convoluted, abnormally formed venous channels lined by cuboidal and oval epithelioid, alpha-actin-positive, glomus cells. Three different clinical variants of glomangioma have been recognized: solitary, multiple, and nodular, or plaquelike. Inheritable forms are common. OBJECTIVE: We describe in 7 patients (2 of them having a familial glomangiomatosis) the rare facial location of glomangiomas to differentiate this type from common facial venous malformation (VM). METHODS: We analyzed clinical data (photographs), course, investigations (computed tomographic scans in 4 patients, magnetic resonance imaging in 6, arteriography in 2, direct puncture phlebography in 4, and pathologic examinations in all 7), and outcome with treatment. RESULTS: Lesions were soft, composed of multiple nodules, confluent and plaquelike, deep blue or blue-to-purple, sometimes sagging, one-sided in a cheek, extending to the lips in 5 patients, to the chin in 4, and to the lower eyelid in 4. They were poorly compressible, a finding different from common facial VMs. In a young man extensive back involvement was associated. Among radiologic investigations, only magnetic resonance imaging after gadolinium enhancement offered some differential features with common VMs. However, histopathologic examination clarified the differential diagnosis: although the large tortuous venous channels were reminiscent of capillary-venous malformation, in many vessels the walls contained one or several rows of glomus cells. CONCLUSION: Multiple plaquelike facial "glomangiomas" mimic a common venous malformation because of their blue hue. However, with experience, one can clinically recognize them, and their pathologic aspect is distinctive. Management should differ slightly from that for common facial VM because sclerotherapy has proven to be less effective. Therefore surgical treatment is the only helpful therapeutic option.     

多发性小汗腺血管瘤样错构瘤一例

报道1例多发性小汗腺血管瘤样错构瘤.小汗腺血管瘤样错构瘤是一种少见的皮肤肿瘤.病理表现为增多的小汗腺结构和大量血管成分.本例患儿8岁,左前臂多发性皮下结节伴疼痛4年,近1年局部出现多汗、多毛.经组织病理检查结合临床表现,诊断为小汗腺血管瘤样错构瘤.浅层x线照射后效果不明显,后进行分次手术切除,疗效较佳.提示治疗小汗腺血管错构瘤选择适当的手术方案是可行的.     

Bowen's disease and squamous cell carcinoma in Haber's syndrome: two cases

BACKGROUND: Haber's syndrome is a rare form of autosomal dominant genodermatosis. Clinically, it is associated with rosaceiform dermatosis of the face that begins in childhood, and profuse keratotic lesions resembling seborrheic keratoses, seen predominantly on the trunk, the tops of the limbs and the scalp. We report two cases of Bowen's disease and cutaneous epidermoid carcinoma in Haber's syndrome patients. OBSERVATIONS: A 67 year-old woman with Haber's syndrome and with a familial history consulted for a budding lesion on the abdomen, histological examination of which confirmed epidermoid carcinoma. A 77 year-old woman presented a clinical picture consistent with Haber's syndrome, with three infiltrated erythematosquamous abdominal lesions. Histological examination of a biopsy sample confirmed the clinical diagnosis of Bowen's disease. The patient was successfully treated with imiquimod. DISCUSSION: These two cases appear to indicate the existence of an association between Haber's syndrome and the presence of cutaneous carcinomatous lesions. We propose the hypothesis of transformation of the keratoses seen in seborrheic keratosis. These lesions may be considered as pre-cancerous. Association with skin carcinomas requires regular monitoring of these patients. The use of imiquimod to treat lesions in patients with Bowen's disease resulted in complete cure.     

Idiopathic hypereosinophilic syndrome and bullous pemphigoid

BACKGROUND: We report the case of bullous pemphigoid associated with hypereosinophilic syndrome. This association has only been report only once in the literature.CASE REPORT: A 58 year-old man was admitted for a surinfected, pruriginous and generalized bullous dermatosis. Physical examination revealed bronchial rales. The cutaneous histology showed a junctional and intradermic cleavage associated with massive dermal infiltration by eosinophils. The diagnosis of a pemphigoid was confirmed by immunology. In parallel, the idiopathic hypereosinophilic syndrome was evoked in view of persisting hypereosinophilia without detected aetiology and associated with pulmonary infiltration. The skin lesions disappeared under symptomatic treatment, but the patient was rehospitalized 4 months later for severe relapse of dermatosis associated with medullary infiltration by eosinophils. Oral corticosteroid therapy gave spectacular results on both skin and blood formula.DISCUSSION: This association is rare, but seems to be related by the same immunological factors highlighting eosinophils. In addition, the presence of hypereosinophilic syndrome gives the pemphigoid some particular clinical, histological and evolutive characteristics.     

Multiple Nodular Lesions Seen in a Patient with Neurocutaneous Melanosis

Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanotic nevi and benign or malignant pigment cell tumors of the leptomeninges. A 2-month-old female infant was referred to our department with widespread pigmented nevi, numerous blackish-brown, elevated, firm nodules, eye lesions, temporal bone defect, and generalized convulsion. The sizes of the nodules were from 0.5 to 3 cm; they were either white, black brown or red, and some of them were eroded and bleeding. Magnetic resonance imaging using gadolinium contrast (MRI-Gd) demonstrated hydrocephalus, defect of the temporal bone, and T1-short and T2-long areas near the cerebrum and the thoracic vertebra (Th 4–5), suggesting the presence of melanosis in the central nervous system. Biopsy specimen of a firm, black nodule of a pigmented lesion on her shoulder revealed sheets of nevomelanocytes in the dermis with a few mitoses and large atypical cells that were positive for HMB-45 and formaldehyde-induced green specific fluorescence. Although this histological architecture is compatible with that of congenital nevi, occasional occurrence of atypical mitoses in the dermis may consitute an early stage of malignant melanoma. To make a definite diagnosis, however, long-time follow-up and repeated skin biopsy are considered necessary.     

Necrobiotic xanthogranuloma without monoclonal gammopathy and with a rapidly fatal outcome

BACKGROUND: Necrobiotic xanthogranuloma is an extremely rare form of histiocytosis that presents clinically as yellowish infiltrated plaques or nodules. Ocular involvement is seen in over 80% of cases. Histopathology reveals numerous xanthomous histiocytes and collagen necrobiosis. Benign monoclonal gammopathy associated with myeloma is found in 80% of patients, but the course is normally long, with 100% survival at 10 years. CASE REPORT: A 76-year-old man presented skin lesions that subsequently became ulcerated. The clinical appearance and histopathological examination resulted in diagnosis of necrobiotic xanthogranuloma. No monoclonal gammopathy or myeloma was seen. The disease was marked by sensitivity to corticosteroids with failure of other therapies (cyclophosphamide, alpha interferon), onset ofcorticosteroid dependency, iatrogenic Cushing's syndrome and diabetes, which were in part responsible for the infectious complications and subsequent death of the patient. DISCUSSION: Necrobiotic xanthogranuloma is difficult to treat, even in the absence of myeloma or monoclonal gammopathy. Corticosteroids are probably the most efficacious treatment, but can give rise to multiple complications, resulting in this particular case in death of the patient.     

Cutaneous granulomatous lesions disclosing ataxia-telangiectasia]

INTRODUCTION: Idiopathic cutaneous granulomatous lesions are exceptionally described in the course of congenital immunodeficiency, including ataxia-telangiectasia. CASE REPORT: We describe a new case of a 28-month girl who presented granulomatous skin lesions revealing a previously unknown ataxia-telangiectasia in the absence of typical neurologic signs, telangiectasia and infectious complications. The clinical aspect showed infiltrated erythemato-squamous plaques and nodules predominating on the face and limbs. These lesions increased in number without remission. Histological examination revealed a nodular, lymphohistiocytic infiltration with granulomatous tendency in the deep dermis and the hypodermis. Before the onset of skin treatment, the child developed an Epstein-Barr-virus related lymphoproliferation. Immunoglobulins and oral corticosteroids associated with chemotherapy permitted the regression of the granulomatous lesions but not of the fatal spread of the lymphoproliferative syndrome. DISCUSSION: These rare cutaneous manifestations are important to know because they can be the initial sign of an immunodeficiency. Clinical and histological aspects are characteristic. They are eventually associated with visceral granulomatous lesions. Physiopathology remains hypothetical. An abnormal immune response to an undetermined antigenic stimulation could be suspected in this particular context. The question of a correlation between these lesions and a proliferative syndrome remains open.