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1.
Autops. Case Rep ; 13: e2023435, 2023. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1439474

RESUMEN

ABSTRACT Hemangiolymphangioma is a very rare vascular malformation that develops as a combination of dilated venous and lymphatic vessels. We describe an unusual case of hemangiolymphangioma of the tongue affecting an adult man who complained of an uncomfortable, slowly progressing exophytic irregular dark red-violaceous nodular mass on his tongue that impaired speech and swallowing for two weeks. The clinical differential diagnoses were Kaposi's sarcoma and a COVID-19-related lesion. A complete blood count and serology for HIV-1 and 2 and RT-PCR for COVID-19 were requested and results were negative. An incisional biopsy was performed. Microscopically, the lesion exhibited several dilated vessels lined by normal-appearing endothelial cells, some filled with prominent intravascular erythrocytes and others containing proteinaceous eosinophilic material resembling lymphatic vessels, in close association with hyperkeratosis, papillomatosis, and acanthosis. From immunohistochemical analysis, most vessels were found to be CD34 positive, some highlighted by α-SMA, whereas D2-40 was focal. Positive staining for some lymphatic and blood vessel markers, i.e., D2-40 and CD34, respectively, indicates a mixed derivation of the lesion. HHV-8 was negative. Clinical features, the congested blood vessels with ectasia in intimate association with hyperplastic epithelium, and the immunohistochemical profile supported the final diagnosis of oral hemangiolymphangioma. The patient underwent minimally invasive surgical excision with no intercurrences. After 18 months of follow-up, there were no signs of relapse.

2.
Artículo | IMSEAR | ID: sea-220416

RESUMEN

Angiokeratoma shows dilatation of capillaries in the upper dermis and it also shows some epidermal changes, like- hyperkeratosis, papillomatosis, and thickening of epidermis or acanthosis .Clinical presentation of angiokeratoma includes plaques over the skin of lower limbs, mostly on the buttocks or thigh. It is usually identified clinically but a definitive diagnosis is made only on histopathological examination.A deeper biopsy of the lesion is empirically essential to make a concrete diagnosis as the characteristic changes seen in angiokeratoma, are limited to superficial dermis. Our case report has a 24 years old female presenting with unilateral, linear, bluish-black verrucous plaque on the back of left elbow.

3.
Chinese Journal of Dermatology ; (12): 709-711, 2021.
Artículo en Chino | WPRIM | ID: wpr-911511

RESUMEN

A 13-year-old female patient presented with itchy rashes on the right foot for 5 years. Skin examination revealed scattered flat, reddish-purple, slightly scaling papules on the inner side of the arch of the right foot, scattered light red papules on the outer side of the right great toe, and scattered domed reddish-purple papules on the right heel with collar-shaped keratinization around the base. Histopathological examination of the papule on the right heel revealed epidermal hyperkeratosis, marked hyperkeratosis around the papule, thickened granular layer and focal liquefaction degeneration of the basal layer with no obvious hyperplasia of the spinous layer; a large number of lymphocytes and plasma cells without atypia infiltrated the dermis, in which there were many small- and medium-sized dilated thick-walled blood vessels lined with prominent plump endothelial cells. The patient was diagnosed with acral pseudolymphomatous angiokeratoma of children, and treated with long-pulsed 1 064-nm Nd: YAG laser once every month. After 7 sessions of treatment, the rashes regressed and decreased in number.

4.
Artículo | IMSEAR | ID: sea-192234

RESUMEN

Angiokeratomas consist of ectasias of dermal capillaries associated with an acanthotic and hyperkeratotic overlying epidermis. These dark red-to-purple, papular vascular anomalies can vary considerably in size, depth, and location. It is a skin disorder that rarely involves oral cavity. It can occur in localized or generalized form and is often associated with underlying metabolic disorder such as Fabry's disease and fucosidosis. It has many clinical variants with the same underlying histopathology. Mucosal involvement, including the oral cavity, is occasionally found either as a component of the systemic variety, called angiokeratoma corporis diffusum, or associated with cutaneous lesions in more locations. Isolated oral involvement seems to be rather infrequent, and only eighteen cases have been described in the world literature thus far. Isolated multiple angiokeratomas of tongue without plaque formation have been reported only four times before this. Here, we report a fifth case of isolated multiple angiokeratomas of tongue in a 16-year-old female which was confirmed by immunohistochemical pattern in consonance with a blood vessel origin, with expression of CD31, CD34, and von Willebrand factor. The lesion did not express D2-40 and CD45. No other malformation or metabolic disorder was found in the patient.

5.
Chinese Journal of Dermatology ; (12): 817-820, 2019.
Artículo en Chino | WPRIM | ID: wpr-801219

RESUMEN

Objective@#To investigate the significance of lymphatic markers in the differential diagnosis of angiokeratoma corporis diffusum (ACD) and angioma serpiginosum (AS) .@*Methods@#Totally, 9 patients with ACD and 6 with AS were enrolled from Department of Dermatology, Xijing Hospital between 2006 and 2017, and their clinical and histopathological features were retrospectively analyzed. Skin sections from all the patients were stained for CD31, D2-40 and Prox1.@*Results@#In the 9 patients with ACD, abnormal vessels were weakly positive or negative for CD31, and positive for Prox1. Endothelial cells in abnormal vessels were locally positive for D2-40 in 4 patients with ACD, but negative for D2-40 in the other 5 patients. In the 6 patients with AS, the endothelia of hyperplastic small vessels were positive for CD31, but negative for D2-40 and Prox1.@*Conclusion@#The clinical features of a few patients with ACD are similar to those of patients with AS, and lymphatic markers have definite significance in the differential diagnosis of the two diseases.

6.
Artículo | IMSEAR | ID: sea-192167

RESUMEN

Angiokeratoma is a benign cutaneous lesion of capillaries. It is characterized by large dilated blood vessels in the superficial dermis and hyperkeratosis of extremities. It is mostly seen in generalized form affecting the extremity of the body, but we report this case of solitary angiokeratoma of the tongue which is a very rare type.

7.
An. bras. dermatol ; 93(5): 712-715, Sept.-Oct. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-949960

RESUMEN

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.


Asunto(s)
Humanos , Femenino , Preescolar , Neoplasias Cutáneas/patología , Hemangioma/patología , Angioqueratoma/patología , Neoplasias Cutáneas/diagnóstico , Diagnóstico Diferencial , Hemangioma/diagnóstico , Angioqueratoma/diagnóstico
8.
An. bras. dermatol ; 93(3): 426-428, May-June 2018. graf
Artículo en Inglés | LILACS | ID: biblio-949873

RESUMEN

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.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Neoplasias Cutáneas/diagnóstico , Neoplasias de la Vulva/diagnóstico , Enfermedad de Fabry/diagnóstico , Angioqueratoma/diagnóstico , Rol del Médico , Neoplasias Cutáneas/patología , Neoplasias de la Vulva/patología , Diagnóstico Diferencial , Terapia de Reemplazo Enzimático , Dermatólogos , Angioqueratoma/patología
9.
Arq. bras. med. vet. zootec. (Online) ; 69(5): 1198-1202, set.-out. 2017. ilus
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-877432

RESUMEN

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)


Asunto(s)
Animales , Masculino , Perros , Angioqueratoma/veterinaria , Neoplasias de la Conjuntiva/veterinaria , Hemangioma/veterinaria
10.
J. inborn errors metab. screen ; 4: e160025, 2016. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1090902

RESUMEN

Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.

11.
Rev. Soc. Bras. Clín. Méd ; 13(3)dez. 2015. ilus
Artículo en Portugués | LILACS | ID: lil-774724

RESUMEN

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)


Asunto(s)
Humanos , Glucano 1,4-alfa-Glucosidasa/uso terapéutico , Enfermedad de Fabry/diagnóstico , Terapia de Reemplazo Enzimático , Angioqueratoma , Pruebas Enzimáticas Clínicas/instrumentación , Técnicas de Genotipaje/instrumentación
12.
Artículo en Inglés | IMSEAR | ID: sea-178059

RESUMEN

Verrucous hemangioma (VH) is an uncommon, congenital, vascular malformation that involves dermis and subcutaneous connective tissue of skin. VH lesions are initially present at birth, and therefore, the diagnosis in the elderly may be difficult. Review of literature reveals that VH lesions are commonly located unilaterally on the lower extremities. VH may clinically present as keratotic, papular, nodular, or plaque-like lesions that are reddish-blue in color. VH does not resolve spontaneously and has a tendency to relapse. The diagnosis of VH is generally done on the basis of histopathology. Early diagnosis is important to get a better cosmetic result. VH requires a large, deep excision to avoid recurrence because of frequent extension into subcutaneous fat planes. Intra-oral lesions of VH have rarely been reported in the literature. We present an extremely rare case of VH occurring in the retromolar triangle area of oral cavity.

13.
Rev. med. vet. (Bogota) ; (30): 129-137, jul.-dic. 2015.
Artículo en Español | LILACS-Express | LILACS | ID: lil-765663

RESUMEN

Las neoplasias oculares son frecuentes en la clínica oftalmológica de pequeños animales. Pueden ser primarias o secundarias, y su ubicación en el globo ocular o anexos puede desencadenar consecuencias que van desde la pérdida de la estética hasta afectar la funcionalidad del ojo. Este artículo presenta un caso de angioqueratoma conjuntival en un canino, hembra, de raza mastín napolitano, de cinco años de edad, en la Clínica de Pequeños Animales de la Universidad Cooperativa de Colombia, sede Ibagué. La paciente fue atendida por presentar alteración ocular en ojo izquierdo, caracterizada por aumento de volumen e hiperemia de la conjuntiva del tercer párpado, con evolución de dos años. Durante el examen oftálmico fue encontrada secreción ocular de tipo mucosanguinolenta, hiperemia conjuntival y conjuntivitis folicular. En la paciente, después del examen clínico general y oftálmico, fue realizada biopsia de la lesión para evaluación histopatológica que determinó angioqueratoma en conjuntiva del tercer párpado, una neoplasia infrecuente en este tipo de tejido y en esta raza. El tratamiento realizado en este caso fue remoción quirúrgica, con resultados favorables, y llevó a la paciente a una completa eliminación de la neoplasia sin secuelas.


Ocular tumors are frequent in the eye clinic of small animals. They can be primary or secondary, and its location within the eyeball or its attachments may trigger consequences ranging from the loss of aesthetics to affecting the eye's functionality. This article presents a case of conjunctival angiokeratoma in a five-year-old female dog of Neapolitan Mastiff breed, in the Small Animal Clinic of Universidad Cooperativa de Colombia in Ibagué. The patient was treated for presenting ocular alteration in her left eye characterized by an increase of volume and hyperemia of the third eyelid conjunctiva, with a two-year evolution. During the ophthalmic examination, ocular mucosanguineous discharge, conjunctival hyperemia and follicular conjunctivitis were found. After general and ophthalmic clinical examination was performed, a biopsy of the lesion was performed for a histopathologic evaluation, which determined angiokeratoma in the third eyelid conjunctiva, a rare neoplasia in this type of tissue and in this breed. The treatment used in this case was surgical removal, with favorable results, which led to a complete removal of the tumor without sequelae in the patient.


As neoplasias oculares são frequentes na clínica oftalmológica de pequenos animais. Podem ser primárias ou secundárias, e sua localização no globo ocular ou anexos pode desencadear consequências que vão desde a perda da estética até afetar a funcionalidade do olho. Este artigo apresenta um caso de Angioqueratoma conjuntival em um canino, fêmea, de raça mastim napolitano, de cinco anos de idade, na Clínica de Pequenos Animais da Universidade Cooperativa da Colômbia, sede Ibagué. A paciente foi atendida porque apresentava alteração ocular no olho esquerdo, caracterizada por aumento de volume e hiperemia da conjuntiva da terceira pálpebra, com evolução de dois anos. Durante o exame oftálmico foi encontrada secreção ocular de tipo muco sanguinolenta, hiperemia conjuntival e conjuntivite folicular. Na paciente, depois do exame clínico geral e oftálmico, foi realizada biopsia da lesão para avaliação histopatológica que determinou Angioqueratoma em conjuntiva da terceira pálpebra, uma neoplasia não muito frequente neste tipo de tecido e nesta raça. O tratamento realizado neste caso foi remoção cirúrgica, com resultados favoráveis, e levou a paciente a uma completa eliminação da neoplasia sem sequelas.

14.
An. bras. dermatol ; 90(3,supl.1): 150-152, May-June 2015. ilus
Artículo en Inglés | LILACS | ID: lil-755738

RESUMEN

Abstract

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.

.


Asunto(s)
Anciano de 80 o más Años , Humanos , Masculino , Angioqueratoma/patología , Queratoacantoma/patología , Neoplasias del Pene/patología , Neoplasias Cutáneas/patología , Diagnóstico Diferencial , Epidermis/patología , Escroto/patología , Resultado del Tratamiento
15.
Indian J Dermatol Venereol Leprol ; 2015 Jan-Fer ; 81 (1): 46-49
Artículo en Inglés | IMSEAR | ID: sea-155005

RESUMEN

Angiokeratoma corporis diffusum is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins, most notably Fabry disease. These defects result in many systemic manifestations. Here, we report a rare familial case of angiokeratoma corporis diffusum that developed at puberty with no major systemic manifestations and no underlying enzyme defect or gene mutation. Familial angiokeratoma corporis diffusum without identified enzyme defect appears to be a distinct clinical entity with a benign course.


Asunto(s)
Adulto , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/epidemiología , Enfermedad de Fabry/etnología , Enfermedad de Fabry/etiología , Enfermedad de Fabry/genética , Enfermedad de Fabry/patología , Familia , Femenino , Humanos , Pubertad , Taiwán
16.
Korean Journal of Dermatology ; : 179-187, 2015.
Artículo en Coreano | WPRIM | ID: wpr-121660

RESUMEN

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.


Asunto(s)
Humanos , Angioqueratoma , Biopsia , Calcinosis , Dermatología , Diagnóstico , Diagnóstico Diferencial , Granuloma Piogénico , Hemangioma , Histiocitoma Fibroso Benigno , Neurofibroma , Pilomatrixoma , Estudios Retrospectivos , Piel , Malformaciones Vasculares , Verrugas
17.
An. bras. dermatol ; 89(1): 141-143, Jan-Feb/2014. graf
Artículo en Inglés | LILACS | ID: lil-703546

RESUMEN

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.


Asunto(s)
Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Angioqueratoma/patología , Enfermedad de Fabry/patología , Neoplasias Cutáneas/patología , Angioqueratoma/genética , Biopsia , Diagnóstico Precoz , Enfermedad de Fabry/genética , Genotipo , Mutación , Hermanos , Neoplasias Cutáneas/genética
18.
Journal of the Korean Association of Oral and Maxillofacial Surgeons ; : 240-245, 2014.
Artículo en Inglés | WPRIM | ID: wpr-201579

RESUMEN

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.


Asunto(s)
Angioqueratoma , Capilares , Dermis , Células Endoteliales , Extremidades , Inmunohistoquímica , Boca , Mucosa Bucal , Membrana Mucosa , Escroto , Piel , Factor A de Crecimiento Endotelial Vascular , Receptor 1 de Factores de Crecimiento Endotelial Vascular , Receptor 2 de Factores de Crecimiento Endotelial Vascular
19.
Indian Pediatr ; 2012 April; 49(4): 316-318
Artículo en Inglés | IMSEAR | ID: sea-169300

RESUMEN

Angiokeratoma circumscriptum is rare cutaneous disorder. It usually presents as multiple,red, blue or black asymptomatic papules on lower extremities. Oral involvement, common in systemic form, is rare in localized forms. We report a case of angiokeratoma circumscriptum of tongue, involving both dorsal and ventral aspects.

20.
Annals of Dermatology ; : 468-471, 2012.
Artículo en Inglés | WPRIM | ID: wpr-176584

RESUMEN

Angiokeratoma is a rare vascular malformation of the upper dermis that presents clinically as deep red to blue-black in color and tends to take a diverse configuration without self-limiting. Here, we reported dermoscopic findings by two cases of angiokeratoma; solitary angiokeratoma and angiokeratoma circumscriptum. A 24-year-old male presented with a 2-months history of 5 mm sized black colored papule on the right buttock. A dermoscopic pattern characterized by red and dark lacunae, whitish veil covered with scale. A 26-year-old woman presented with multiple, 2~10 mm, dark colored papules on the anterior neck with zosteriform fashion since childhood. A dermoscopic pattern presented by red lacunae intermingled with whitish veil. As a previous report, our two cases was the most common dermoscopic pattern of angiokeratoma; red lacunae and whitish veil. Angiokeratoma is often diagnosed as melanocytic nevi, Spitz nevi, malignant melanomas, pigmented basal cell carcinomas, seborrheic keratoses, dermatofibromas and other vascular lesions including hemangiomas and pyogenic granulomas. However, in the dermoscopic view, these above lesions hardly show red lacunae with whitish veils. Therefore, the dermscopic view is a useful differential method of angiokeratoma.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Adulto Joven , Angioqueratoma , Nalgas , Carcinoma Basocelular , Dermis , Dermoscopía , Granuloma Piogénico , Hemangioma , Histiocitoma Fibroso Benigno , Queratosis Seborreica , Melanoma , Cuello , Nevo , Nevo Pigmentado , Malformaciones Vasculares
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