Angiokeratomas are telangiectatic papules with keratotic surface. They are usually mild, but may indicate a Fabry disease.
It follows from the dilation of the capillaries of the dermal papilla, due to venous hypertension, vascular malformation or to a capillary fragility.
Angiokeratomas LOCALIZED:
Genital area:
Angiokeratomas localized can be observed physiologically on the vulva of older women, and on the scrotum of men over 40 years. When they are due to venous hypertension. They can reach the penis and thighs.
It is of course in these locations eliminate Fabry disease.
If the patient’s request, we can propose electrocoagulation.
On the fingers:
Angiokeratomas localized on the fingers rather appear in women, often beginning in childhood, and in a context of acrocyanosis. Achieving key the dorsolateral surface of the fingers or toes.
We must bring the patient to a specialist to detect a vascular malformation or a rare syndrome.
On the buttocks:
Several angiokeratomas can be grouped in plate on a buttock, often on a dermatome.
This is the circumscribed angiokeratoma næviforme rare vascular malformation. Specialist advice is also required.
In this location, it is necessary to remove a Fabry disease.
After trauma:
Angiokeratomas can appear after trauma, often grouped blackish (for vascular thrombosis).
Melanoma must be eliminated.
The treatment of choice is excision.
Angiokeratomas DIFFUSE IN SHORTS:
Fabry disease:
Fear is a Fabry disease.
Diffuse angiokeratomas, underpants, predominate in the root of the thighs, belt, but can also get the fingers and scrotum. Occurring in childhood and adolescence, they are associated with acroparesthesia or sweating disorders (anhidrosis or hyperhidrosis). Appear then to the third decade of visceral complications, especially kidney and heart failure, stroke, asthenia, depression. The cornea shows a characteristic aspect of cornea verticillata.
This is a genetic disease, X-linked, resulting in a deficiency alphagalactosidase. Women can also be affected in a more or less important, as the phenomenon of lyonization.
Diagnosis:
In case of clinical suspicion, it is better to entrust the patient to a specialist. It takes a family tree and family history search. In humans, it can help the activity assay of alphagalactosidase.
In both sexes, the urinary assay G3b compound is interesting. If abnormalities of these tests, genetic screening is offered.
Prenatal diagnosis is possible.
Treatment:
Neuropathic pain can be soothed
by antiepileptic drugs (Tegretol®, Di-Hydan®, Neurontin). Replacement therapy alphagalactosidase (Fabrazyme, Replagal®) can prevent the visceral.
Associated with other pathologies:
Diffuse body angiokeratomas have been described in association with such a variety of conditions such as Turner syndrome or tuberous sclerosis.
