Angiokeratomas, not everything is Fabry disease

Cuestas, Daniel; Perafan, Alejandra; Forero, Yency; Bonilla, Juan D; Velandia, Alexander; Gutiérrez, Ana María; Motta, Adriana; Herrera, Hugo; Rolon, Mariam

doi:10.1111/ijd.14330

Cited by 20 publications

(11 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Peripheral redness, which likely represents inflammation of the lesion and erythrocyte extravasation in the papillary dermis, were seen in seven lesions. Two lesions presented a peripheral pigment network due to hyperpigmented rete ridges, which is akin to the network observed in dermatofibromas ( 36 ). Hemorrhagic crusts were detected in 12.9% lesions, which is far lower than the 53% reported in previous study ( 16 ).…”

Section: Discussionmentioning

confidence: 66%

Dermoscopic Features Summarization and Comparison of Four Types of Cutaneous Vascular Anomalies

et al. 2021

View full text Add to dashboard Cite

Objective: Dermoscopic features of cutaneous vascular anomalies have been reported, but the described features currently known are limited and not well-understood. The aim of this study is to comprehensively summarize and compare the dermoscopic features of the four different types of cutaneous vascular anomalies [infantile hemangiomas (IH), cherry angioma (CA), angiokeratomas (AK), and pyogenic granuloma (PG)] in the Chinese Han population.Materials and Methods: Dermoscopic features of 31 IH, 172 CA, 31 AK, and 45 PG were collected based on the contact non-polarized mode of dermoscopy at 20-fold magnification. Dermoscopic features including background, lacunae, vessel morphology and distribution were collected and summarized. Additionally, we compared these features by age stage, gender, and anatomical locations in CA.Results: The dermoscopic features of IH included the red lacunae, red/red-blue/red-white backgrounds, and vessel morphology such as linear curved vessels, serpiginous vessels, coiled vessels. For CA, the lacunae appeared reddish brown to reddish blue or only red. In terms of vascular morphology, serpentine vessels, coiled vessels, looped vessels, and curved vessels could be seen in the lesions. A few lesions were black or presented with a superficial white veil. There were statistical differences in red background (P = 0.021), unspecific vessel distribution (P = 0.030), black area (P = 0.029), and white surface (P = 0.042) among different age groups. Red-brown lacunae (P = 0.039), red-blue (P = 0.013), red-white background (P = 0.015), black area (P = 0.016), and white surface (P = 0.046) were of statistical difference in terms of the locations of lesions. Lacunae were also observed in AK, which presented with red, dark purple, dark blue, black. Global dermoscopic patterns that were characterized by a homogeneous area were obvious in all PG lesions, among which 30 (66.7%) were red-white and 15 (33.3%) were red. As for local features, “white rail” lines were detected in 19 (42.2%) lesions and white collarette was seen in 34 (75.6%) lesions.Conclusions: Dermoscopy is an applicable diagnostic tool for the diagnosis of cutaneous vascular anomalies. It is necessary to take into account the age stage and lesion location when we diagnose CA using dermoscopy.

show abstract

Section: Discussionmentioning

confidence: 66%

Dermoscopic Features Summarization and Comparison of Four Types of Cutaneous Vascular Anomalies

et al. 2021

View full text Add to dashboard Cite

show abstract

“…As reported for other populations, Colombian Fabry patients present mild pain and proteinuria in childhood and adolescence; kidney disease, stroke, and cardiovascular manifestations in adulthood; and cutaneous and gastrointestinal manifestations that may begin in adolescence. The appearance of angiokeratoma, which occurs as results of glycosphingolipids accumulation at the vascular level, has also been reported in this population [28,30,31]. Ophthalmological features of Fabry disease have been described in Colombian patients not only in the anterior segment, but also in the posterior pole of the eye.…”

Section: Fabry Diseasementioning

confidence: 61%

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

View full text Add to dashboard Cite

Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities.

show abstract

“…The lesions are characterized by dark-red to black papules, nodules, or plaques in association with overlying epidermal hyperplasia. They are classified into localized and diffuse ones (Cuestas et al 2019) (Table 5). 7.…”

Section: Angiokeratoma Corporis Diffusummentioning

confidence: 99%