Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme

Abstract: Verrucous hemangioma is a rare vascular skin disorder with an immune profile similar to vascular neoplasms, but with behavior and evolution of vascular malformations. Its main differential diagnosis is angiokeratoma circumscriptum neviforme, with an almost indistinguishable clinical presentation because both diseases appear as erythematous patches that evolve to violaceous plaques, becoming scaly and even verrucous, most commonly affecting the lower limbs. Histopathology is crucial for the correct diagnosis: while in angiokeratoma the vascular alterations are limited to the papillary dermis, verrucous hemangioma extends deep into the dermis, reaching the subcutaneous tissue.

Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role

Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease.

A Case of Acral Pseudolymphomatous Angiokeratoma of Children (APACHE) / 대한피부과학회지

No abstract available.

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma α-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

Angioceratoma conjuntival canino: relato de caso / Canine conjunctival angiokeratoma: case report

O angioceratoma é um tumor de origem vascular, semelhante ao hemangioma, que se diferencia deste por alterações histológicas epiteliais. A apresentação ocular do angioceratoma é pouco frequente em cães, sendo mais comum a ocorrência de hemangioma e hemangiossarcoma. Neste relato, é descrito o caso de um cão, macho, da raça Border Collie, que apresentava uma massa localizada, hiperêmica, bem vascularizada e protrusa, na região temporal da conjuntiva bulbar do olho direito (OD). Foi realizado exame oftalmológico completo e ultrassonografia ocular, tendo sido possível observar que a massa não envolvia outras estruturas oculares além da conjuntiva. Dessa forma, foi realizada a conjuntivectomia parcial, e o material foi encaminhado para análise histológica. O exame histopatológico foi conclusivo para um angioceratoma e mostrou que as margens da amostra estavam livres. O procedimento cirúrgico com margem de segurança foi eficiente no tratamento da neoplasia, sem recorrência até o momento do presente relato.(AU)

Angiokeratomas have been described as tumors of vascular origin, similar to hemangioma but with participation of adjacent epithelium and less frequent in dogs. In this case we have reported an adult, male, Border Collie dog presenting a localized and hyperemic mass with protrusion surface and well vascularized region of temporal bulbar conjunctiva of the right eye (OD). Complete ocular examination and ocular ultrasound have revealed no involvement of other ocular structures beyond the conjunctiva. A partial conjuntivectomy was surgically performed, tissue material sent for histological analysis and angiokeratoma diagnosis was accurately made. Surgical procedure with a safety tissue margin has shown adequate treatment efficiency, with no neoplasia recurrence to date.(AU)

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

Caso familiar com diagnóstico para doença de Fabry / Familiar case with diagnostics for Fabry disease

A doença de Fabry é uma enfermidade genética ligada ao cromossomoX e de caráter progressivo, causada pela deficiênciaparcial ou total da enzima alfa galactosidase A (?-Gal A). Habitualmenteo diagnóstico é tardio em função das complicaçõespatológicas provocadas pela deficiência da enzima. OBJETIVO:Neste estudo, descrevemos os aspectos clínicos de um caso familiaratravés do acompanhamento ao longo de 3 anos, duranteo tratamentopela reposição enzimática. MÉTODOS: O métodoadotado foi indutivo, relacionado ao estudo de caso familiarde pacientes com doença de Fabry. Quanto à natureza das informações,a pesquisafoi qualitativa, utilizando-se, quanto aoseu objetivo, à pesquisa exploratória. Com relação as fonte deinformação e procedimento de coleta, a pesquisa caracteriza-secomo sendo bibliográfica e documental. A amostra foi compostapor três pacientesque realizamacompanhamento quinzenalpara aplicação de terapia de reposição enzimática. O critério deinclusão para a pesquisa partiu do pressuposto de se considerarque a doença de Fabry é uma afecção rara e que a família estudadacontempla com riqueza manifestações clínicas, capazesde caracterizar a doença de Fabry. RESULTADOS: Os principaissintomas clínicos relatados pelos pacientes foram: crisede dor generalizada, fadiga, acroparestesia, febre, mialgia, dorabdominal, hipohidrose, intolerância ao frio, calor e ao exercíciofísico. Esses sintomas segundo os pacientes surgiram nainfância e foram amenizados após o uso da terapia de reposiçãoenzimática, propiciando uma melhor qualidade de vida para osmesmos. Também, se observou sinais específicos desta patologianos pacientes, como córnea verticillata e angioqueratoma. Atravésda genotipagem se verificou a semelhança da mutação entre os pacientes do estudo, demonstrando padrão típico de herançarecessiva ligada ao cromossomo X. CONCLUSÃO: Os pacientesdeste estudo apresentaram quadro clínico semelhante,sendoque a sintomatologia iniciou na infância. Córnea verticillata eangioqueratoma umbilical foram sinais encontrados nos pacientes do sexo masculino e são considerados manifestações clínicas frequentes desta patologia. A herança encontrada nesta amostra tem um padrão típico de herança recessiva ligada ao cromossomo X. Desta forma, apesar de ser uma afecção rara na população em geral, o diagnóstico precoce e a terapia de reposição enzimática permitem a evolução clínica favorável e a melhoria da qualidade de vida do paciente.(AU)

Fabry disease is a genetic disorder linked to the X chromosomeand progressive, caused by partial or total deficiency of alphagalactosidase A (?-Gal A). Usually the diagnosis is delayed dueto the pathological complications caused by deficiency of theenzyme. OBJECTIVE: In this study, we describe the clinicalaspects of a family case by monitoring for over three years,during the treatment by enzyme replacement. METHODS:The method adopted was inductive, related to the study of afamily case with patients with Fabry disease. About the nature ofthe information, the research was qualitative, using, as its goal,the exploratory research. Regarding the source of informationand collection procedure, the research is characterized asbibliographical and documentary. The sample was composed ofthree patients submitted to biweekly monitoring for applicationof enzyme replacement therapy. The inclusion criterion forthe research assumed to consider that Fabry disease is a raredisease and that the studied family contemplates with wealththe clinical manifestations, able to characterize the Fabrydisease. RESULTS: The main clinical symptoms related bypatients were: generalized pain crisis, fatigue, acroparesthesia,fever, myalgia, abdominal pain, hypohidrosis, intolerance tocold, heat and exercise. These symptoms according to patientsemerged in childhood and were alleviated after the use ofenzyme replacement therapy, providing a better quality of lifefor them. Also, we found specific signs of this disease in patients,as verticillata cornea and angiokeratoma. By genotyping, it wasfound the similarity of the mutation among patients in thestudy, showing typical pattern of recessive inheritance linkedto chromosome X. CONCLUSION: The patients in this study showed similar clinical condition, and the symptoms began inchildhood. Verticillata cornea and umbilical angiokeratomasigns were found in male patients and are considered commonclinical manifestations of this pathology. The heritage found inthis sample has a typical pattern of recessive inheritance linkedto chromosome X. Thus, despite being a rare disease in generalpopulation, early diagnosis and enzyme replacement therapyallow favorable clinical evolution and improved patient qualityof life.(AU)

Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma

The term 'angiokeratoma' includes a wide range of dermatological conditions of hyperkeratotic vascular disorders with a similar histologic combination of hyperkeratosis and superficial dermal vascular ectasia. Angiokeratomas can be classified into localized and systemic forms. Angiokeratoma of Fordyce (AKF) is a localized form of angiokeratoma, clinically characterized by 1- to 6-mm, black, blue, or dark red, dome-shaped papules located on the scrotum, shaft of penis, labia majora, clitoris, inner thigh, and lower abdomen. We describe herein a case of giant angiokeratoma of Fordyce on shaft of the penis in an elderly man, clinically masquerading as keratoacanthoma.

Clinicopathologic Study of Angiokeratoma and Lesions Resembling Angiokeratoma / 대한피부과학회지

BACKGROUND: Angiokeratomas are vascular malformations that usually appear as multiple or solitary cutaneous papules, nodules, or plaques. Several clinical variants of angiokeratoma exist. The differential diagnosis of angiokeratoma can be difficult and some cases that are clinically suggestive of angiokeratoma are found to be caused by other diseases following skin biopsy. OBJECTIVE: The purpose of this study was to examine the diagnostic yield following analysis of clinically diagnosed angiokeratomas, which presented as multiple or solitary cutaneous papules, nodules, or plaques. METHODS: We retrospectively reviewed 36 patients who had visited the department of dermatology between January 2004 and December 2013, and who, following biopsy, had a clinical diagnosis of angiokeratoma or a differential diagnosis of angiokeratoma. We compared the clinical and histopathologic diagnoses, and analyzed the rate of concurrence and clinical features, including age, sex, location, and duration. RESULTS: The angiokeratoma patients accounted for 61.1% of all new patients and their mean age was 32.2 years. The most common subtype was solitary angiokeratoma (11 cases, 50%). Histopathologic analysis showed that 38.9% of patients had a different type of disease and their mean age was 31.4 years. The most common causes of disease for this latter group were pyogenic granuloma (21.4%) and hemangioma (21.4%), followed by calcinosis cutis, dermatofibroma, neurofibroma, pilomatricoma, verruca vulgaris, and herpes viral infection. CONCLUSION: Lesions suggestive of angiokeratoma need further examination and a biopsy is useful to determine the correct differential diagnosis between angiokeratoma and other diseases, to avoid erroneous management.

Angioqueratoma nevoide circunscrito: reporte de un caso / Angiokeratoma circumscribed nevoid: a case report

El angioqueratoma nevoide circunscrito es una malformación vascular presente en la dermis superficial. Es la más rara de las cinco variantes de angioqueratoma; aparece desde el naci-miento o en las primeras dos décadas de la vida; es más común en mujeres en relación de 3 a 1; generalmente está localizado en muslo, y glúteo, mostrando una distribución unilateral (1,2,3). Para su tratamiento son empleadas al-gunas medidas terapéuticas son empleadas como la electrocoagulación, crioterapia, ciru-gía, laser. Presentamos el caso de una paciente con an-gioqueratoma nevoide circunscrito tratado con láser neodimiun yang, con evolución favorable de las primeras lesiones.

The angiokeratoma circunscrito Naeviorme is a vascular malformation, this is present in the superficial dermis, is the rarest of the five va-riants of angiokeratoma, appears at birth or in the first two decades of life, is more common in women, in a ratio of 3 to1, generally located on thigh, buttock, showing a distribution unila-teral (1, 2, 3), some therapies are used as elec-trocoagulation, cryotherapy, surgery, laser.We report a patient with nevoid circumscribed angiokeratoma laser treatment neodimiun yang, with a favorable evolution of the first session.

Angioqueratoma solitario: reporte de dos casos, características dermatoscópicas y revisión bibliográfica / Solitary angiokeratoma: report of two cases: literature review and dermoscopic features

Los angioqueratomas son lesiones vasculares benignas caracterizadas histológicamente por dilataciones vasculares en la dermis superficial. El angioqueratoma solitario forma parte de las cinco variedades clínicas de Angioqueratomas, se caracteriza por ser único y presentarse en la segunda y tercera década de la vida. Clínicamente es una pápula queratósica, verrucosa rojo azulada de pequeño tamaño. Presenta diversos diagnósticos diferenciales, y el melanoma maligno es el más importante. La dermatoscopia es una herramienta útil para el adecuado diagnóstico de esta patología, respaldada por la histopatología. Se reportan dos casos de pacientes con angioqueratoma solitario y se realiza revisión de la literatura.

The angiokeratomas are histologically bening vascular lesions characterized by vascular dilatación in the superficial dermis. Solitary angiokeratoma is part of the five varieties angiokeratomas clinical features and be unique in the second and third decades of life. Clinically, it is a keratotic, warty, small red blue to back popule. Presents various differential diagnoses being malignant melanoma principal. dermoscopy is a helpful tool for the proper diagnosis of this disease, supported by histopathology. We report two cases of patients with solitary angiokeratoma and literature review was performed.

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.

Angiokeratome solitaire de la langue

Introduction : L'angiokeratome est une lesion cutanee rare pouvant se presenter soit sous forme d'une lesion solitaire; soit sous forme de papules multiples associees a des troubles metaboliques et rentrants dans le cadre d'une atteinte systemique generalisee. L'atteinte de la cavite orale est plus frequente dans la forme systemique et la localisation linguale est extremement rare. Observation : Les auteurs rapportent une nouvelle observation d'angiokeratome solitaire linguale chez un patient age de 37 ans qui s'est presente pour une masse linguale nodulaire bien limitee douloureuse et saignante au contacte sans particularite. L'examen dermatologique n'a pas retrouve de lesions cutanees associees. Une biopsie exerese a conclu a un angiokeratome. L'evolution etait bonne; sans recidive avec un recul de 1 an. A partir de cette observation et une revue de la litterature; sont discutes les aspects epidemiologiques; cliniques; histologiques et therapeutiques de cette entite extremement rare. Conclusion : L'angiokeratome de la langue est rare; face a ce diagnostic; un examen general minutieux est indispensable pour eliminer une maladie systemique

Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review

Angiokeratoma is a benign cutaneous lesion of the capillaries, presenting as dilated vessels in the upper part of the dermis. Although this disorder is classified into various types and has been occasionally reported in the skin of the scrotum or extremities, the involvement of the oral cavity mucosa has been rarely reported. The present study reports a case of angiokeratoma circumscriptum in the buccal mucosa. The expression of vascular endothelial growth factor (VEGF) and both of its receptors (VEGFR-1 and VEGFR-2) was demonstrated by immunohistochemistry in the endothelial cells lining the dilated vessels. The expression of VEGFR-2 was higher than that of VEGFR-1 in the endothelial cells in the lesion, indicating an increased rate of endothelial cell proliferation within the lesion. Interestingly, some of the endothelial cells co-expressed VEGF and its two receptors. These results suggest that endothelial cells in the pathologically dilated vessels possess VEGF autocrine growth activity involved in vasculogenesis and maintenance in angiokeratoma lesions. To our knowledge, this is the second report published on isolated oral angiokeratoma confined to the buccal mucosa and the first case report on angiokeratoma circumscriptum involving the buccal mucosa.

Acral pseudolymphomatous angiokeratoma: case report and literature review / Angioqueratoma pseudolinfomatoso acral: relato de caso e revisao da literatura

The authors describe a case of a female patient with Acral Pseudolymphomatous Angiokeratoma of Children, known as APACHE. It is a rare benign cutaneous disease, of unknown etiology, characterized by multiple, asymptomatic erythematous-violaceous papules and nodules, usually located unilaterally with acral distribution. Today, this denomination is questionable, since there are published reports of this disease in adults and in different locations. Clinically, it is similar to an angiokeratoma, whereas hystologically, it corresponds to a distinct type of pseudolymphoma. The immunohistochemical study is required to distinguish APACHE from cutaneous lymphoma.

Relata-se o caso de uma paciente com diagnóstico de angioqueratoma pseudolinfomatoso acral, conhecido por sua sigla em inglês APACHE - Acral Pseudolymphomatous Angiokeratoma of Children. É uma doença cutânea benigna, rara, de etiologia desconhecida, caracterizada por múltiplas pápulas e nódulos eritêmato-violáceos assintomáticos, de localização geralmente unilateral e acral. Atualmente, questiona-se esta denominação, já que há relatos na literatura do quadro em adultos e em outras localizações. Clinicamente, é similar a um angioqueratoma, porém, histologicamente, corresponde a um tipo distinto de pseudolinfoma. O estudo imuno-histoquímico é necessário para diferenciação dos linfomas cutâneos.

Angiokeratoma corporis diffusum without systemic features in a young Kashmiri female: a rare occurrence

Angiokeratoma corporis diffusum [ACD] is a variety of angiokeratoma, characterized by diffuse cutaneous hyperkeratotic vascular lesions. ACD is usually associated with many lysosomal enzyme deficiencies, though it is not a rule. It is associated with systemic features along with skin lesions. It may also present as isolated cutaneous form. X-linked recessive form usually manifests in males and females act as carriers. We report a case of ACD without systemic features in a young Kashmiri female.

Cutaneous variant of angiokeratoma corporis diffusum: a case report

Angiokeratoma corporis diffusum [ACD] is a rare clinical type of angiokeratoma and has been reported, mostly, in association with various life threatening conditions, of which Fabry disease is the most known. Rarely, it has been reported as an isolated finding without any systemic features. A 23-year-old male presented with numerous red papules of various sizes with a history of intermittent bleeding. Histopathology findings were consistent with angiokeratoma and our case was diagnosed as ACD. We herein present a case of cutaneous variant of ACD without any associated systemic associations. Also, the conditions associated with ACD have been briefly discussed.