Afshar Ramezanpour, Abdolamir Feizi, Ramin Mohammadi,
Volume 2, Issue 1 (3-2011)
Abstract
Fabry disease is a X-linked lysosomal storage disorder due to alpha galactosidase A deficiency leading to abnormal accumulation of glycosphingolipids in different parts of body. This case report introduces a 35-year-old man with diffuse keratotic erythematous papules. Histopathological evaluation of the skin biopsy suggested the diagnosis of angiokeratoma. With attention to his nephropathy and the same skin lesions and renal involvement in his brother, which led him to receive renal transplantation, the diagnosis of Fabry disease was suggested.
Mahnaz Banihashemi, Fakhrozzaman Pezeshkpoor, Sahar Aziziahari, Mohammad Tohidi,
Volume 5, Issue 4 (1-2015)
Abstract
|
Anderson-Fabry
which is also known as Fabry disease is an X-linked recessive enzyme
deficiency disorder. Its clinical manifestations are caused by storage of
sphingolipids in the lysosomes of the endothelial, perithelial, and smooth
muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its
hallmark dermatological manifestation is diffuse angiokeratomas known as
angiokeratoma corporis diffusum. Peripheral painful neuropathy, eye
involvement, cardiovascular problems, cerebrovascular complications, and
renal failure are other manifestations of Fabry disease.
|
Herein,
we report a 22-year-old man who had been referred to a dermatology clinic for
evaluation of his skin lesions. The patient had diffuse angiokeratomas, which
were characteristic for Fabry disease as well as painful acral neuropathy.
Histpathologic examination of one of his skin lesions was reported as
angiokeratoma. Since cornea verticillata was observed in his eyes and he also
suffered from sensory-neural hearing loss, he was diagnosed as a case of Fabry
disease.
Ala Ehsani, Bahar Sadeghi, Amirhoushang Ehsani, Mahshid-Ol- Sadat Ansari, Zahra Razavi, Mina Koohian Mohammadabadi, Kambiz Kamyab, Pedram Nourmohammadpour, Mobina Kamalabadi Farahani, Amirhossein Rahimnia,
Volume 15, Issue 3 (11-2024)
Abstract
Background and Aim: Angiokeratomas are rare vascular lesions, typically presenting as small red to purple macules or papules on the skin. These lesions are usually benign, though they can undergo changes in thickness and color over time. Certain types of angiokeratomas may also signal underlying metabolic disorders, necessitating careful clinical attention. This study aims to analyze the clinical and demographic features of angiokeratoma in Iranian patients at Razi Dermatology Hospital.
Methods: This descriptive, retrospective cross-sectional study examined 199 patients diagnosed with angiokeratoma between 2013 and 2023. Data on demographics, lesion characteristics (location and size), family history, and treatment methods were collected from medical records and analyzed using SPSS. Both parametric and non-parametric statistical tests were applied to assess associations, with a significance level set at 0.05.
Results: The mean age of patients was 24.75 years, with the second and third decades showing the highest prevalence. Among the patients, 51.3% were male and 48.7% female. Lesions most commonly appeared on the lower extremities (40.7%) and genital area (18.6%). Treatment methods included cryotherapy (68.14%), laser (27.14%), and electrodessication (4.44%), with cryotherapy proving the most effective among them.
Conclusion: This study provides valuable insights into the prevalence, clinical characteristics, and preferred treatment approaches for angiokeratoma in Iranian patients. Broader studies across various centers, along with long-term follow-up, are recommended to further investigate the clinical course, therapeutic outcomes, and potential complications associated with different treatment methods.
