Angiokeratoma circumscriptum.

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.

Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease.

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.

[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient]. / Diffuse hyperkeratotische Papeln am unteren Abdomen und im Genitalbereich bei einem 38­jährigen Patienten.

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.

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.

Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus.

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.

ß-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

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.

Angiokeratomas, not everything is Fabry disease.

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.

Solitary plaque on the leg of a child: A report of two cases and a brief review of acral pseudolymphomatous angiokeratoma of children and unilesional mycosis fungoides.

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.

Solitary angiokeratoma of tongue: A case report and review of the literature.

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.

[Acquired facial angiokeratoma]. / Angiokératome acquis de la face.

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.

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.

Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme.

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.

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.