Solitary Angiokeratoma of Oral Mucosa: A Rare Presentation
Case Reports in Dentistry, 2013 Solitary angiokeratoma of oral mucosa is rare entity. The term Angiokeratoma is used to refer to several lesions, whose common denominator is the presence of dilated blood vessels in association with epidermal hyperplasia.
Shilpa Kandalgaonkar +5 more
doaj +1 more source
Verrucous venous malformation [PDF]
, 2019 Verrucous venous malformation, also known as verrucous hemangioma, is a superficial vascular malformation with a variable degree of hyperkeratosis that is composed of capillaries and veins in the dermis and sometimes subcutaneous tissue. We describe a 53-
Kim, Gene H +2 more
core
European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes +12 more
wiley +1 more source
Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme [PDF]
Anais Brasileiros de Dermatologia, 2018 : Verrucous hemangioma is a rare vascular skin disorder with an immune profile similar to vascular neoplasms, but with behavior and evolution of vascular malformations.
Kenselyn Oppermann +2 more
doaj +2 more sources
Angiokeratoma of tongue:a series of 14 cases [PDF]
, 2006 Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
Ahmed, Rashid +7 more
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Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]
, 2017 BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P +14 more
core +1 more source
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta +3 more
wiley +1 more source
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
, 2018 BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva +15 more
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Penile Angiokeratomas (PEAKERs) Revisited: A Comprehensive Review
Dermatology and Therapy, 2020 Angiokeratomas are benign vascular lesions. Genital angiokeratomas, also referred to as Fordyce angiokeratomas, usually occur on the scrotum in men and the vulva in women.
Philip R. Cohen, Nicholas J. Celano
doaj +1 more source
Localized Angiokeratomas in healthy adolescence responded to topical Timolol. [PDF]
Int J Health Sci (Qassim)Alkhowailed MS.
europepmc +2 more sources