Cutaneous variant of angiokeratoma corporis diffusum (original) (raw)
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Cutaneous variant of angiokeratoma corporis diffusum: a case report
Journal of Pakistan Association of Dermatologists
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.
2021
Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSDs) have also been identified as triggers of ACD. Generalized vasculopathy is an important pathogenetic factor in FD and may also lead to the acroparesthesia (AP) often predominant in FD. We report on an 85-yearold woman with ACD present since her youth and associated with severe AP. Ultrastructure of the dermal lesion showed no lysosomal involvement, but the absence of the basement membrane of the endothelial cells of the capillary vessels was noteworthy. Repeated analyses of the GLA gene revealed no evidence of FD. Whole-exome sequencing was negative for FD and other LSDs, and allowed us to also study FD-related intronic regions of the GLA gene. This is the first report of a patient with FD-like ACD with an endothelial abnormality, otherwise unexplained vasculopathy and severe AP, which are not due to FD or another LSD. Based on family history, another genetic, yet unidentified, defect may cause the disease in this patient. In unexplained ACD, extended genetic analysis is required to exclude particular pathogenic variants of the GLA gene and other genes.
Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease
Indian Dermatology Online Journal, 2020
Angiokeratomas are variable sized hyperkeratotic vascular papules that are characterized histologically by superficial dilated capillaries in papillary dermis with epidermal proliferation. They can occur as a single lesion to a generalized form (angiokeratoma corporis diffusum). Angiokeratoma corporis diffusum though initially synonymous with Anderson Fabry disease, is now known to occur in a variety of lysosomal enzyme deficiencies. We report a case of 22 year old male with angiokeratoma corporis diffusum associated with acroparesthesias, febrile episodes, sensorineural hearing loss and renal involvement. Histopathological evaluation showed characteristic ectatic blood vessels with vacuolated endothelial cells in papillary dermis. Based on the clinical evaluation and available investigations, we suspected him to be having to Anderson fabry disease. Resource constraints limited our ability to confirm our diagnosis with enzyme assay and electron microscopy. We report this unusual cas...
Angiokeratoma corporis diffusum universale: A rare case report from Nepal
2021
Angiokeratoma corporis diffusum universale, a clinical variant of angiokeratoma, is a generalized vascular ectasia that is associated with overlying epidermal changes rather than a true vascular neoplasm. It is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins. Herein, we present possibly the first case report from Nepal of angiokeratoma corporis diffusum universale in a 14-year-old female from consanguineous parents who presented herself with characteristic clinical and laboratory features of angiokeratoma corporis diffusum with progressive mental and motor developmental delay along with seizures, dystonia, and recurrent chest infections. Resource constraints limited confirmation with an enzyme assay and electron microscopy. We report this unusual case with the intention of re-emphasizing the importance of clinical evaluation in reaching a diagnosis in a resource-deficient setting.
Angiokeratomas, not everything is Fabry disease
International Journal of Dermatology, 2019
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.
Angiokeratoma corporis circumscriptum
European Journal of Plastic Surgery, 1988
Four patients with angiokeratoma circumscriptum are presented. Although this rare lesion usually involves the lower extremity, two of these cases had involvement of the upper extremity, one of the lower extremity, and one of the trunk. In one case a very large area of the upper limb was affected. Hemangiomas were present beneath the lesions in three cases, and in two patients lymphangioma circumscripta was present between hemangiomas, indicating an intermediate form of angiokeratoma circumscriptum.
A rare clinic type of angiokeratoma: angiokeratoma circumscriptum naeviforme
Our Dermatology Online, 2016
Angiokeratomas are verrucous, hyperkeratotic, red-black, well-demarcated papules and plaques consisting of vascular enlargement and hyperkeratosis [1]. Five different clinical variants of angiokeratoma have been identifined including angiokeratoma corporis diffusum (Fabry's disease), angiokeratoma Mibelli, angiokeratoma Fordyce, angiokeratoma circumscriptum, solitary and multiple angiokeratomas [2]. Angiokeratoma circumscriptum naeviforme, is a rare clinic type of angiokeratomas [1]. We report here a case of angiokeratoma circumscriptum naeviforme, on the lower extremity of a male patient.
Diferential Diagnoses of Angiokeratomas
2020
Angiokeratomas (AK) are probably the vascular lesions that induce more confusion in the literature. The most accepted classification of AK was performed by Imperial and Helwig[1], and they divide these lesions into five classical types: Mibelli’s AK, Fordyce’s AK, corporis diffusum AK, circumscribed naeviforme AK and solitary or multiple adquired angiokeratomas. Nevertheless, in the clinical practice, is not unusual to see AK type lesions associated to different types of vascular anomalies, and these lesions have difficult handling. In ISSVA classification AKs have been included as vascular anomalies provisionally unclassified. We perform the differential diagnoses of AKs and according to clinical picture, histopathological aspect, immunohistochemical markers and radiological findings proposed to divide AKs mainly in two groups. Primary AKs are the classical types. The new inmunohistochemical findings suggest that these lesions might be included as mixed capillary-lymphatic malforma...
A Patient with Acroangiodermatitis Without a History of Vascular Disease: A Case Report
Zanjan University of Medical Sciences, 2019
Article Info ABSTRACT 10.30699/jambs.27.123.49 Acroangiodermatitis (AAD), also known as Pseudo-Kaposi's sarcoma, is a rare benign angioproliferative disease associated with chronic venous insufficiency (CVI) or other vascular disorders. We present an 81-year-old male with plaque-like cutaneous lesions, which had progressive erythematous margins, severe pain, and intense pruritus, as well as bilateral swollen and painful feet. It was around five months that he had these problems. Based on the pathology of skin lesion biopsy specimens and the immunohistochemical staining results (which indicated the positivity of CD34), the diagnosis of pseudo-Kaposi's sarcoma was confirmed.