Eccrine angiokeratomatous hamartoma combined with solitary angiokeratoma or verrucous venous malformation: Report of two cases and comprehensive review of the literature

First reported in 2006, eccrine angiokeratomatous hamartoma is a very rare vascular malformation of the skin, with only few described cases. It has a peculiar histopathology with features deriving from the combination of two different vascular malformations of the skin: solitary angiokeratoma and eccrine angiomatous hamartoma. In the past, other authors described similar hamartomatous lesions with features deriving from verrucous venous malformation and eccrine angiomatous hamartoma. We believe that these lesions are clearly overlapping from clinical, histopathological, and immunohistochemical points of view and the term “eccrine angiokeratomatous hamartoma” should be used to indicate the whole spectrum of these lesions as suggested by Kanitakis et al. Herein we present two cases of this rare vascular hamartoma, with clinical, histopathological and immunohistochemical characterization. In addition, for the first time we report a complete and detailed review of the literature to clarify the clinical, epidemiological, and histopathological features of this unique entity.     

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.     

Laser surgical planning with magnetic resonance imaging-based 3-dimensional reconstructions for intralesional Nd:YAG laser therapy of a venous malformation of the neck

BACKGROUND: Three-dimensional (3-D) imaging using computed tomography or magnetic resonance imaging data is well known for surgical planning of complex lesions in neurosurgery. In dermatology, percutaneous and intralesional Nd:YAG laser therapy is well established for numerous types of vascular malformations. Diagnostic imaging using ultrasound, computed tomography, or magnetic resonance imaging is necessary to plan the laser therapy of those malformations. The therapeutic problem is to localize the venous malformation exactly before treatment on sectional 2-dimensional images. OBSERVATIONS: We describe a 27-year-old woman with a venous malformation of the neck. The data of diagnostic magnetic resonance imaging were used for a 3-D reconstruction of the venous malformation to demonstrate the anatomical extent and subcutaneous involvement for laser surgical planning. Percutaneous and intralesional laser therapy was performed at 3-month intervals with the Nd:YAG laser using the 3-D reconstruction as a road map for the Nd:YAG laser. Eight weeks after the last laser treatment, the bulky lesions of the neck showed regression. Using the 3-D reconstruction for laser surgical planning, physicians could perform intralesional laser treatment more exactly. The complex anatomy of the venous malformation could be elucidated by studying the 3-D images before and during laser surgery. CONCLUSION: The use of magnetic resonance imaging-based 3-D reconstructions for laser surgical planning can demonstrate the often unexpected extent and improve the intralesional laser therapy in the treatment of venous malformations.     

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.     

Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation

Cobb syndrome is defined by a cutaneous vascular lesion and a corresponding spinal cord vascular malformation within a segment or two of the involved dermatome. Even though Cobb syndrome has been reported in association with various cutaneous vascular lesions, to our knowledge, only one other previous report describes verrucous changes overlying the cutaneous vascular lesion. We describe a patient with verrucous vascular malformation extending from his right chest to his right upper back in a dermatomal distribution. The patient's medical history included excision of a cavernous vascular malformation from the corresponding segment of his thoracic spinal cord 4 years prior, reversing 7 years of progressive leg weakness and neural deficits. Cobb syndrome was diagnosed based on the dermatomally distributed vascular malformation and the corresponding spinal cord vascular malformation. His skin lesions initially improved with erbium: YAG laser treatment but later recurred. This is the second reported case of Cobb syndrome associated with verrucous angiokeratomalike changes overlying the cutaneous vascular malformation. Because of the potentially severe neurologic sequelae caused by spinal cord lesions, clinicians should evaluate patients with dermatomally distributed cutaneous lesions on the trunk or extremities, including vascular malformations with verrucous features.     

Verrucous lymphovascular malformation versus verrucous hemangioma: controversial nomenclature

The International Society for the Study of Vascular Anomalies (ISSVA) divides congenital vascular anomalies into malformations and tumors and subclassified hemangiomas under tumors. However, evidence shows this accepted classification has not been widely employed. Particularly troublesome is the use of the term hemangioma, commonly used to describe a variety of vascular lesions (both malformations and tumors). The term verrucous hemangioma has been used to describe a congenital vascular anomaly with a progressive verrucous epidermal surface persisting throughout life unless surgically excised. Recent evidence suggests that some of these lesions may share histologic features of both hemangiomas and malformations, thereby causing nosologic confusion. We report a 15-year-old adolescent girl with such a lesion and review the literature and controversy of verrucous hemangiomas. In our case, the most appropriate diagnosis is verrucous lymphovascular malformation. Further testing of similar lesions will be necessary to fully understand the nature and classification of these lesions.     

Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management

Vascular stains are a common reason for consultation in pediatric dermatology clinics. Although vascular stains include all vascular malformations, the term is most often used to refer to capillary malformations, but capillary malformations include a wide range of vascular stains with different clinical features, prognoses, and associated findings. The discovery of several mutations in various capillary malformations and associated syndromes has reinforced these differences, but clinical recognition of these different types of capillary vascular stains is sometimes difficult, and the multitude of classifications and confusing nomenclature often hamper the correct diagnosis and management. From our own experience and a review of the most relevant literature on this topic, we propose categorizing patients with capillary vascular stains into seven major clinical patterns: nevus simplex, port‐wine stain, reticulated capillary malformation, geographic capillary malformation, capillary malformation–arteriovenous malformation (CM‐AVM), cutis marmorata telangiectatica congenita, and telangiectasia. We also discuss the differential diagnosis of vascular stains as well as other conditions that can closely resemble capillary malformations and thus may potentially be misdiagnosed.     

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.     

高频电凝术治疗血管瘤和脉管畸形821例临床分析

目的探讨高频电凝治疗血管瘤和脉管畸形的疗效。方法采用高频电凝治疗血管瘤和脉管畸形患者821例,根据病变部位、大小、深度调整输出能量(10~50W)。治疗后随访6个月~3年。结果血管瘤治愈率78.64%,显效率14.08%;静脉畸形治愈率71.02%,显效率19.32%;混合型脉管畸形治愈率65.92%,显效率17.49%;动静脉畸形治愈率11.11%,显效率44.44%。其中动静脉畸形治愈率与其他3组比较差异有统计学意义(P0.05)。结论高频电凝是治疗血管瘤和脉管畸形的一种微创、安全、有效的新方法。     

外用西罗莫司治疗儿童浅表脉管畸形19例的临床疗效及安全性分析

目的:研究外用西罗莫司乳膏治疗儿童浅表脉管畸形的有效性与安全性。方法:采用单中心前瞻性设计,纳入2019年9月至2020年9月就诊于首都医科大学附属北京儿童医院皮肤科脉管性疾病专业门诊的浅表脉管畸形患儿,予0.1%西罗莫司乳膏外用,通过影像学、皮肤镜、主观评定等指标,根据国际通用四级分类法评估疗效,同时监测用药期间的不...     

Capillary malformations associated with cerebral cavernous malformation

INTRODUCTION: Capillary malformations such as benign hereditary telangiectasia are a familial affection, of dominant autosomal transmission, characterized by the progressive development of cutaneous telangiectasia during childhood. The association with cutaneous vascular, arteriovenous or lymphatic malformations is exceptional and has only recently been described. CASE REPORT: A 5 year-old girl presented with widespread erythematous, predominantly telangiectasic, congenital and acquired macules when she was one year-old. Her history was marked by right temporal cerebral hemorrhage at the age of 4, revealing a right temporal cavernoma-like vascular malformation. The familial history of telangiectasic macules and clinical and histological examination led to the diagnosis of benign hereditary telangiectasia. DISCUSSION: This case report raises doubt on the exclusively cutaneous nature of benign hereditary telangiectasic-type capillary malformations. Moreover, it illustrates the possibility of a particular clinical form of this affection, associating classical telangiectasia and post-wine stain-type macules. The recent localization of the locus implied in this affection in 5q14 in the same chromosomic space as the CMC1 locus incriminated in familial capillary malformations, suggests that these two affections are in fact phenotype variations of a single and same clinical entity.     

[Artículo traducido] Malformaciones vasculares: un enfoque histopatológico y conceptual

In the field of vascular anomalies, distinguishing between vascular malformations and tumors has become crucial for a correct therapeutic approach. However, the differential diagnosis between these two groups is not always well explained in classical texts, mainly because many vascular malformations are still known with old names that suggest a tumoral nature. Also, genetic and pathogenic knowledge of these entities has greatly increased in recent decades, so researchers and clinicians now have a better understanding of vascular malformations. In this paper, we present the main histopathological tips to recognize and identify a vascular malformation as such. We also contextualize such information in the clinical and pathogenic knowledge for a better understanding of these entities.     

Vascular Malformations: A Histopathologic and Conceptual Appraisal

In the field of vascular anomalies, distinguishing between vascular malformations and tumors has become crucial for a correct therapeutic approach. However, the differential diagnosis between these two groups is not always well explained in classical texts, mainly because many vascular malformations are still known with old names that suggest a tumoral nature. Also, genetic and pathogenic knowledge of these entities has greatly increased in recent decades, so researchers and clinicians now have a better understanding of vascular malformations. In this paper, we present the main histopathological tips to recognize and identify a vascular malformation as such. We also contextualize such information in the clinical and pathogenic knowledge for a better understanding of these entities.     

皮肤和黏膜多发静脉血管畸形一家系

目的 探讨家族遗传性皮肤和黏膜多发静脉血管畸形家系的临床及病理特点。方法 对家系进行临床流行病学调查和常规组织病理检查。结果 一家系5代 65名成员中有患者19例,呈现出典型的常染色体显性遗传;所有患者均无消化道出血、心脏和脑部异常史。皮损表现为口腔黏膜和四肢皮下等处大小不等的蓝紫色、突出皮面、质稍硬的瘤体。病理表现为静脉管腔不规则扩大,血管壁厚薄不一,小静脉丛生,血管内皮细胞层正常,平滑肌细胞层存在不同程度的增厚或者缺乏。结论 综合遗传方式和临床表现以及组织病理表现,诊断为皮肤和黏膜多发静脉血管畸形。     

Pyogenic granuloma over the venous component of a mixed vascular malformation

A 52‐year‐old man presented with a rapidly growing red tumor on the central neckline. It had appeared over a congenital flat and pinkish vascular lesion that involved the shoulder and the upper anterior area of his chest. Intermingled with the pinkish stain, there were also some blue nodules several millimeters in diameter. Histopathologic examination revealed that the full lesion was a mixed venous‐capillary malformation. The red tumor was excised and diagnosed as a pyogenic granuloma developing over the venous component of the vascular malformation. To our knowledge, a pyogenic granuloma growing over a venous malformation has not been previously described.     

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.     

Epithelioid haemangioma in association with a deep arteriovenous malformation

Epithelioid haemangiomas are benign, vascular tumours characterized by the proliferation of epithelioid endothelial cells with abundant eosinophilic hyaline cytoplasm. We report a case of epithelioid haemangioma in association with a deep arteriovenous malformation of the subclavian artery. The association of reactive vascular proliferations with arteriovenous malformations is uncommonly reported.     

Eccrine angiomatous hamartoma with elements of an arterio-venous malformation: a newly recognized variant

We present the case of a 54-year-old man with a brown-red nodule on the hand that had been present since early adulthood. Histology of the excisional biopsy revealed hyperplasia and proliferation of eccrine, apocrine, lipomatous, and vascular structures. These findings were most characteristic of the entity known as eccrine angiomatous hamartoma (EAH), an uncommon tumor that may present variable clinical and histological features. In addition, this particular case exhibited a prominent component of arterio-venous malformation that distinguishes it from other EAHs described in the literature and adds to the spectrum of histologic findings that can be seen with this entity.