Fabry disease affects young people and can have monosymptomatic courses, which only involve CNS without any medical history of other classic Fabry symptoms such as
angiokeratoma, cornea veriticillata, or heart and kidney disease.
A cutaneous hemangioma is a benign neoplasm (growth) on the skin that looks a lot like a blood blister (
angiokeratoma).
Impaired glycosphingolipid metabolism leads to systemic lysosomal globotriaosylceramide accumulation with multiorgan systemic involvement and complex clinical presentation: acroparesthesias,
angiokeratoma, hypohidrosis, corneal and lenticular opacities, gastrointestinal and endocrine abnormalities, renal impairment, and neural and cardiovascular disease [1, 2].
This subtype is characterized by the presence of myoclonus (a sudden and involuntary jerking of a muscle or group of muscles), ataxia,
angiokeratoma (a skin condition manifested by clusters of dilated blood vessels, thickened skin, and warty growths), mental retardation, and long survival [8].
In a large retrospective case series, various skin abnormalities such as follicular papules, comedones, hypertrophic pilosebaceous units,
angiokeratoma of Fordyce, leucoderma macules, and haemangiomas have been shown to be associated with NLCS.
Angiokeratoma, purple papules on upper thighs and mucosal areas, is a typical but not specific symptom.
Our patient does not have any major characteristics of Fabry disease, but she presented with major depression and
angiokeratoma besides she had heterozygote mutation.
Background:
Angiokeratoma of fordyce occurring over on the vulva is a rare condition.
Some patients may have rash in Scrotum,
angiokeratoma and this cannot be diagnosed unless one examines the patients carefully.
Angiokeratoma.
Angiokeratomas are vascular tumours consisting of numerous ectatic blood vessels in the superficial dermis.
The clinical differential diagnosis for vulvar syringoma is broad and should exclude such diseases as epidermal cyst, steatocystoma multiplex, lymphangioma circumstriptum, chronic lichen simplex,
angiokeratoma in Fox-Fordyce disease, senile angioma, condyloma acuminatum, candidiasis, scabies, pediculosis, allergic and irritant contact dermatitis, psoriasis and lichen sclerosus et atrophicus (2, 7, 8, 19-21).
Angiokeratoma ectasia of blood vessel were seen in 2 patients and both were male.