Results 31 to 40 of about 4,096 (231)
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role [PDF]
Anais Brasileiros de Dermatologia, 2018 : 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
Patricia Moraes Resende de Jesus +3 more
doaj +1 more source
Angiokeratoma of the tongue: A case report and review literature
Medical Journal of Babylon, 2021 Angiokeratomas are vascular abnormalities that usually appear as multiple or solitary cutaneous plaques. Several clinical variants have been designated, with the same principal histopathological lesion.
Ahmed Al Abbasi +3 more
doaj +1 more source
Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report [PDF]
Терапевтический архив, 2023 FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme ...
Olga V. Mashkunova +3 more
doaj +1 more source
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
core +1 more source
Middle East African Journal of Ophthalmology, 2014 Angiokeratoma is a rare, usually acquired muco-cutaneous wart-like vascular lesion that is frequently reported in the scrotum. Bleeding may occur if angiokeratoma is excoriated or traumatized. We report an exceedingly rare solitary eyelid angiokeratoma in an otherwise normal middle aged male.
Hussein, Ramadan S. +2 more
openaire +3 more sources
Indian Journal of Dermatology, 2013 Angiokeratoma of Fordyce occurring over vulva is rare. Angiokeratoma of Fordyce commonly occurs in males over scrotum or penile shaft and presents as multiple verrucous reddish papules. They are usually asymptomatic and noticed accidentally.
Mohan H Kudur, Manjunath Hulmani
doaj +1 more source
Clinical and Dermoscopic Spectrum: Novel Findings in Interesting Cases
Indian Journal of Paediatric Dermatology, 2021 Uncommon, interesting clinical entities presenting in dermatological practice often challenges the diagnostic skills of a trained dermatologist. A non-invasive tool for recognition of these conditions is especially relevant in the paediatric population ...
Sneharani Hariprasad Chandak +1 more
doaj +1 more source
Cutaneous Horn Arising from Angiokeratoma Associated with Underlying Dermatofibroma.
Indian J Dermatol, 2023 Nam KH, Lee SK, Lee IJ, Park J, Yun SK.
europepmc +2 more sources
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]
, 2015 Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina +17 more
core +3 more sources
Angiokeratoma circumscriptum neviforme: An entity, few and far between
Indian Dermatology Online Journal, 2014 Angiokeratomas are a group of vascular ectasias that involve the papillary dermis and may produce papillomatosis, acanthosis and hyperkeratosis of the epidermis. Angiokeratoma circumscriptum is the least common variant among many types.
Anupam Das +4 more
doaj +1 more source