Angiokeratoma

1. Presenter : Dr Rana
Moderator :Dr Amina

2.  Introduction
 Classification
 Clinical features
 Differential diagnosis
 Investigation
 Management
 Fabry disease –Lysosomal Storage Disorder

3.  Group of telengectasia with prominent
epidermal response in form of hyperkeratosis
 Small benign cutaneous vascular lesions which
present as red/blue or purple papules
 Histologically similar clinically different

5. Types
Generalised Angiokeratoma corporis diffusum
Localised
Angiokeratoma circumscriptum
Solitary papular angiokeratoma
Angiokeratoma of Fordyce
Angiokeratoma of Mibelli

6.  At birth
 Lower extremities in a U/L
distribution
 Klippel–Trenaunay syndrome,
cavernous haemangiomas
traumatic , arteriovenous fistulas
 Differential diagnosis-
veruccous hemangioma
Lymphangioma circumscriptum

7.  2nd – 4th decade
 Acquired in response
to trauma
 Solitary warty
papules commonly on
leg
 Differential diagnosis
: Seborrheic keratosis,
melanoma, pigmented
basal cell carcinoma

8.  Commonest
 Small red papules on
scrotum & genital
area
 Labia majora-
angiokeratoma of
vulva
 Differential diagnosis:
varicocele

9.  Tiny red papules to warty
in nature
 Dorsum of the fingers
and toes, the elbows, and
the knees
 Finger tip ulceration +
 Rare genodermatosis
with an autosomal-
dominant trait for
vascular lesions located
over bony prominences &
family history of chilblain

10.  Angiokeratomas of dorsal hands in children -
Acral pseudolymphomatous angiokeratoma
(APACHE)
 Unilateral,sporadic in nature, without
associated cold sensitivity
 Histology- dense, nodular, lymphohistiocytic
infiltrate with occasional plasma cells,
eosinophils & multinucleated giant cells
 In adolescents and adults- Acral
angiokeratoma like psuedolymphoma

11.  Histopathology-
 Epidermis-
hyperkeratosis,
acanthosis &
elongation of rete
ridges
 Papillary dermis-
characteristic -Dilated,
ectatic capillaries

12.  The primary therapy is reassurance
 Treatment –cosmetic reason
 Electrosurgery, CO2 laser ablation, long-pulse
vascular laser therapy or excision
 Cryotherapy

14.  Rare X-linked
lysosomal storage
disease
 Mutations – alpha
galactosidase A gene
(GLA)
 Xq22.1 region
 Males affected –
earlier, Females -
carrier

15. kidneys; cardiac myocytes; autonomic system; cornea; endothelial,
perithelial , & smooth muscle cells of bloodvessels; & histiocytic &
reticular cells of connective tissue
Gb3 accumlates in lysoyme of tissue & fluids
Prevent degradation of sphingoloipids (globotriaosylceramide,Gb3)
Deficiency of α-galactosidase A

16.  A “pseudoacromegalic”
facial appearance
 Angiokeratomas-
“bathing trunk” area
 First symptoms usually-
acroparasthesia-
burning sensation in
palm & soles
 Raynaud phenemenon
+

17.  Anhydrosis/hypohydro
sis, lymphedema
 Cornea verticillata-
opacities in the cornea
characterized by one or
more lines radiating
from the near the center
of the cornea
 Other eye changes-
tortuosity of retinal
vessels, optic atrophy,
cataracts, and lenticular
changes

18.  Renal-Microalbuminuria and hyperfiltration
are early features, then end stage renal disease
 Cardiac-left ventricular hypertrophy, mitral
valve prolapse, arrhythmia, and coronary
artery disease
 Cerebrovascular- ischemic or hemorrhagic
strokes , transient ischemic attack and strokes
affecting the posterior circulation.

19.  Electron microscopy-
electron dense,
lamellated
intracytoplasmic
vacuolar inclusions
(zebra bodies)
 Polarizing microscopy
of urine reveals
birefringent lipid
globules = Maltese
crosses

20.  Fucosidosis
 Aspartyl glucosaminuria
 Galactosialidosis
 Schindler/Kanzaki disease
 β-Mannosidosis
 GM1-gangliosidosis/β-galactosidosis
 Sialidosis
 Idiopathic

21. 1. SPECIFIC-Enzyme replacement-α-Galactosidase B
(Fabrazyme), α-galactosidase A(Replagal)
2. Acroparasthesia-avoid triggering factor,
diphenylhydantoin, carbamazepine, or gabapentin
3. Metoclopramide and pancrelipase are used to reduce
GI symptoms
4. Renal failure-hemodialysis
5. Chaperone-based enzyme enhancement therapy

22.  Fitzpatrick- 8th edition
 Rooks text book of dermatology -9th edition
 Bolognia – 3rd edition
 IADVL Text book – 4th edition
 Andrew diseases of skin dermatology -11th
edition
 Lever’s histopathology of skin – 10th edition