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1.
Dermatol Online J ; 26(11)2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-33342183

RESUMO

Angiokeratoma circumscriptum is the rarest variant of angiokeratoma. It usually affects females and it is characterized by dark-red to blue-black confluent papules or nodules on lower limbs in a segmental and unilateral distribution. We describe the clinical and histopathological findings in a patient with angiokeratoma circumscriptum and discuss the etiology, associations, diagnosis, differential diagnosis, and treatment.


Assuntos
Angioceratoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adulto , Angioceratoma/congênito , Angioceratoma/patologia , Diagnóstico Diferencial , Feminino , Humanos , Extremidade Inferior , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia
2.
Artigo em Inglês | MEDLINE | ID: mdl-32566958

RESUMO

Angiokeratomas are the cutaneous hallmark of Fabry disease. Although it is well established that enzyme replacement therapy (ERT) prevents or slows the progression of disease on target organs in the majority of patients, the long-term effect of ERT on angiokeratomas remains unknown. We present a patient diagnosed with Fabry disease at age 11, with rapid progression of new angiokeratomas in typical regions before beginning treatment with ERT. To date, our patient has been treated with ERT for 10 years. During the treatment period, new angiokeratomas have not arisen nor have existing ones enlarged during puberty, adolescence, and early adulthood. Furthermore, partial regression of the angiokeratomas has occurred in association with regression of left ventricular hypertrophy and anhidrosis. Overall, this case suggests that long-term ERT could stop the progression of angiokeratomas and induce their partial regression but does not produce complete resolution. Importantly, regression of angiokeratomas might be a marker of systemic target-organ efficacy of ERT.


Assuntos
Angioceratoma/patologia , Terapia de Reposição de Enzimas , Doença de Fabry/tratamento farmacológico , Isoenzimas/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Neoplasias Cutâneas/patologia , alfa-Galactosidase/uso terapêutico , Angioceratoma/etiologia , Doença de Fabry/complicações , Doença de Fabry/patologia , Humanos , Masculino , Neoplasias Cutâneas/etiologia , Adulto Jovem
3.
Internist (Berl) ; 61(6): 621-625, 2020 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-32367302

RESUMO

A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α­galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.


Assuntos
Terapia de Reposição de Enzimas , Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Abdome , Adulto , Angioceratoma/patologia , Doença de Fabry/genética , Genitália , Glicoesfingolipídeos/sangue , Humanos , Masculino , Neoplasias Cutâneas/patologia , alfa-Galactosidase/sangue
5.
J Cutan Pathol ; 47(6): 566-570, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31997363

RESUMO

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.


Assuntos
Angioceratoma/patologia , Glândulas Écrinas/patologia , Hamartoma/patologia , Pele/irrigação sanguínea , Adolescente , Adulto , Angioceratoma/metabolismo , Angioceratoma/ultraestrutura , Criança , Diagnóstico Diferencial , Feminino , Hamartoma/metabolismo , Hamartoma/cirurgia , Hamartoma/ultraestrutura , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Molécula-1 de Adesão Celular Endotelial a Plaquetas/metabolismo , Pele/patologia , Neoplasias Cutâneas/patologia , Doenças Vasculares/patologia , Malformações Vasculares/patologia
7.
J Pediatr Adolesc Gynecol ; 32(4): 440-442, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30974213

RESUMO

BACKGROUND: We present an adolescent with multiple vulvar angiokeratomas within a background of lichen sclerosus. CASE: A 13-year-old girl presented with vulvar pruritus and wart-like vulvar lesions. Four lesions were resected because of discomfort and uncertainty of the diagnosis. Pathology revealed angiokeratomas with chronic inflammation suggestive of lichen sclerosus. Postoperatively, pruritus continued in the largest excised lesion, which was associated with lichen sclerosus, and symptoms were treated successfully with topical steroids. SUMMARY AND CONCLUSION: Vulvar angiokeratomas are asymptomatic red papular lesions and are rare in the female adolescent population. In this case, the pathology revealed the rare co-occurrence of angiokeratomas and lichen sclerosus. Biopsies of vulvar vascular lesions in symptomatic adolescents are recommended. Vulvar angiokeratomas might manifest rare genetic disease in otherwise asymptomatic female patients and warrant further follow-up.


Assuntos
Angioceratoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Líquen Escleroso Vulvar/diagnóstico , Administração Tópica , Adolescente , Angioceratoma/patologia , Angioceratoma/terapia , Feminino , Humanos , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Esteroides/administração & dosagem , Vulva/patologia , Líquen Escleroso Vulvar/patologia , Líquen Escleroso Vulvar/terapia
8.
Artigo em Inglês | MEDLINE | ID: mdl-30886116

RESUMO

ß-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme ß-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the clinical presentation is heterogeneous, common symptoms include various degrees of developmental delay, behavioral disturbances, hearing loss, and frequent infections. We report a 15-yr-old girl presenting with mild intellectual disability, sensorineural hearing loss, severe behavioral disturbances, dysmorphic traits, and evolving angiokeratomas. Copy-number variation analysis of next-generation sequencing (NGS) data indicated increased coverage in exons 8-11 of MANBA Low ß-mannosidase activity (1 µkatal/kg protein, refv 25-40) established the diagnosis of ß-mannosidosis. Whole-genome sequencing (WGS) and cDNA analysis revealed a novel homozygous intragenic inverted duplication in MANBA, where a 13.1-kb region between introns 7 and 11 was duplicated and inserted in an inverted orientation, creating a 67-base nonduplicated gap at the insertion point. Both junctions showed microhomology regions. The inverted duplication resulted in exon skipping of exons 8-9 or 8-10. Our report highlights the importance of copy-number variation analysis of data from NGS and in particular the power of WGS in the identification and characterization of copy-number variants.


Assuntos
Angioceratoma/genética , Variações do Número de Cópias de DNA , Manosidases/genética , beta-Manosidose/genética , Adolescente , Angioceratoma/diagnóstico , Angioceratoma/patologia , DNA Complementar/genética , Éxons/genética , Feminino , Duplicação Gênica , Perda Auditiva/genética , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Deficiência Intelectual/genética , Mutação , Fenótipo , Análise de Sequência de DNA , Sequenciamento Completo do Genoma , beta-Manosidose/diagnóstico , beta-Manosidose/patologia
9.
Int J Dermatol ; 58(6): 713-721, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30656678

RESUMO

INTRODUCTION: Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals. METHODS AND CASE: We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case. DISCUSSION: Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation. CONCLUSION: This is an academic-clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up-to-date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.


Assuntos
Angioceratoma/diagnóstico , Doença de Fabry/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adulto , Angioceratoma/etiologia , Angioceratoma/patologia , Biópsia , Dermoscopia , Diagnóstico Diferencial , Doença de Fabry/complicações , Doença de Fabry/patologia , Feminino , Humanos , Pele/diagnóstico por imagem , Pele/patologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia
10.
Pediatr Dermatol ; 36(1): e1-e5, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30318629

RESUMO

Acral pseudolymphomatous angiokeratoma of children (APACHE) and unilesional mycosis fungoides (MF) are two rare dermatoses in the pediatric population which may have overlapping clinical and histopathologic features, making differentiation between these two diagnoses difficult. We present two similar cases of a solitary plaque on the thigh of a child, one representing APACHE and the other representing unilesional MF with granulomatous features, and we provide a brief overview of the clinical and histopathologic features of APACHE and unilesional MF.


Assuntos
Angioceratoma/patologia , Micose Fungoide/patologia , Pseudolinfoma/patologia , Neoplasias Cutâneas/patologia , Angioceratoma/diagnóstico , Criança , Feminino , Humanos , Masculino , Micose Fungoide/diagnóstico , Pseudolinfoma/diagnóstico , Pele/patologia , Neoplasias Cutâneas/diagnóstico
11.
Indian J Dent Res ; 29(6): 844-846, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30589018

RESUMO

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.


Assuntos
Angioceratoma/patologia , Neoplasias da Língua/patologia , Neoplasias da Língua/cirurgia , Angioceratoma/diagnóstico por imagem , Angioceratoma/cirurgia , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X , Língua/diagnóstico por imagem , Língua/patologia , Neoplasias da Língua/diagnóstico por imagem
12.
Pan Afr Med J ; 30: 140, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30374386

RESUMO

Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Diascopy revealed partially emptied papules with keratotic surface. Kaposi syndrome, melanoma, carcinoma or angiokeratoma were suspected. Histological examination revealed angiokeratoma. Treatment based on electrocoagulation was proposed to the patient.


Assuntos
Angioceratoma/diagnóstico , Eletrocoagulação/métodos , Neoplasias Cutâneas/diagnóstico , Angioceratoma/patologia , Angioceratoma/cirurgia , Diagnóstico Diferencial , Hemorragia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia
13.
An. bras. dermatol ; 93(5): 712-715, Sept.-Oct. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-949960

RESUMO

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.


Assuntos
Humanos , Feminino , Pré-Escolar , Neoplasias Cutâneas/patologia , Hemangioma/patologia , Angioceratoma/patologia , Neoplasias Cutâneas/diagnóstico , Diagnóstico Diferencial , Hemangioma/diagnóstico , Angioceratoma/diagnóstico
15.
An Bras Dermatol ; 93(5): 712-715, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30156622

RESUMO

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.


Assuntos
Angioceratoma/patologia , Hemangioma/patologia , Neoplasias Cutâneas/patologia , Angioceratoma/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Hemangioma/diagnóstico , Humanos , Neoplasias Cutâneas/diagnóstico
18.
An Bras Dermatol ; 93(3): 426-428, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29924222

RESUMO

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.


Assuntos
Angioceratoma/diagnóstico , Doença de Fabry/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Vulvares/diagnóstico , Angioceratoma/patologia , Dermatologistas , Diagnóstico Diferencial , Terapia de Reposição de Enzimas , Feminino , Humanos , Pessoa de Meia-Idade , Papel do Médico , Neoplasias Cutâneas/patologia , Neoplasias Vulvares/patologia
19.
An. bras. dermatol ; 93(3): 426-428, May-June 2018. graf
Artigo em Inglês | LILACS | ID: biblio-949873

RESUMO

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.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Cutâneas/diagnóstico , Neoplasias Vulvares/diagnóstico , Doença de Fabry/diagnóstico , Angioceratoma/diagnóstico , Papel do Médico , Neoplasias Cutâneas/patologia , Neoplasias Vulvares/patologia , Diagnóstico Diferencial , Terapia de Reposição de Enzimas , Dermatologistas , Angioceratoma/patologia
20.
Dermatol Online J ; 24(10)2018 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-30677813

RESUMO

Angiokeratomas are benign vascular ectasias in the papillary dermis associated with epidermal changes in the form of hyperkeratosis and/or acanthosis. Clinically, angiokeratomas appear as solitary or multiple dark red to purple-black macules and/or papules, mostly with a verrucous surface. Five subtypes of angiokeratoma have been proposed - angiokeratoma corporis diffusum, angiokeratoma of Mibelli, angiokeratoma of Fordyce, angiokeratoma circumscriptum, and "solitary and multiple" angiokeratomas. We report an unusual case of multiple angiokeratomas in a zosteriform distribution with onset at age 74.


Assuntos
Angioceratoma/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Cutâneas/patologia , Idade de Início , Idoso , Angioceratoma/diagnóstico , Nádegas , Humanos , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Cutâneas/diagnóstico
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