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Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum

  • Author(s): Sodeify, Manoochehr, MD
  • Aghaei, Shahin, MD
  • Monabbati, Ahmad, MD
  • et al.
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Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum.
Manouchehr Sodaifi MD1, Shahin Aghaei MD1, and Ahmad Monabati MD2
Dermatology Online Journal 10 (1): 20

From the Department of Dermatology1 and Pathology2, Shiraz University of Medical Sciences, Shiraz, Iran. : shahinaghaei@yahoo.com


Case presentation

A 22-year-old male, born of non-consanguineous parents, was referred to our department with complaint of the insidious appearance of red-purple papules over the trunk with occasionally itching and pin-point bleeding, which had progressed over the past 4 years. These papules slowly increased in number and size. There was no history of anhidrosis, abdominal or bone pain, acral paresthesias, chest pain, or loss of visual acuity. No family member was affected by this disorder.


Figure 1 Figure 2
Figure 1. Anterior chest with multiple, tiny, red, and hyperkeratotic papules.
Figure 2. Scattered papules over the back; with circumscribed dark brown patch on lower back skin that multiple hyperkeratotic red papules has been studded on it.

Figure 3 Figure 4
Figure 3. Right lateral hip view of the same patient.
Figure 4. Left lateral hip view of the same patient.

Figure 5
Figure 5: Several weeks after treatment.

On physical examination, the patient had normal physical and mental development. He was normotensive. Clusters of individual, punctate, dark red to blue-black papules were seen mainly over the anterior chest, back, and hips (Figs. 1 and 2). Thighs, penis, and scrotum were also involved (Figs. 3 and 4). The mucous membranes and nail folds were spared. Larger papules were hyperkeratotic. Over the lower back there was a circumscribed, dark brown, oval-shaped patch studded with hyperkeratotic, dark red-purple papules (Fig. 5). The latter localized lesions had been appeared at birth.


Figure 6 Figure 7
Figure 6. Low power view of angiokeratoma; dilated blood vessels with congested thin walls are demonstrated beneath the hyperkeratotic epidermis. Lower parts of dermis are unremarkable (H & E staining, magnification (40).
Figure 7. High power view of angiokeratoma; dilated vessel with endothelial plumpness. Epidermis shows acanthosis and papillomatosis (H & E staining, magnification (400).

On investigation, his hemogram, urinalysis, CXR, abdominal ultrasound, slit-lamp examination of the cornea, ECG and echocardiography were within normal limits. Skin biopsies were obtained from papules of the diffuse lesions and circumscribed lesions. Histopathology results were the same in both diffuse and circumscribed lesions: mild hyperkeratosis, significant papillomatosis, and elongation of rete ridges. In the upper portion of dermis, just beneath the epidermis and between rete ridges, prominent dilated vascular spaces were noticed which were full of red blood cells. No significant pathology was seen in the mid and lower dermis and subcutaneous fat as well (Figs. 6 and 7).

On the basis of the above findings a final diagnosis of cutaneous angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum was made.

We could not carry out enzyme deficiency detection studies in our case because of lack of such investigation facilities in our institution.


Discussion

Systemic angiokeratoma corporis diffusum (Anderson-Fabry disease) is an unusual X-liked lysosomal disorder characterized by deficiency of α-galactosidase [1]. The clinical manifestations of the disease predominantly result from the progressive deposition of Gal-Gal-Glc-Cer in the vascular endothelium [2]. Onset of the disease usually occurs during childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesias) and the appearance of vascular cutaneous lesions (angiokeratomas), hypohidrosis or anhidrosis, and characteristic corneal and lenticular opacities [2].

Other features include varicose veins, stasis related edema, hypertension, cerebrovascular attacks, coronary artery disease [3], anorexia, weight loss, diarrhea [4], and febrile episodes with advancing age. The progressive accumulation of the ceramide leads to early demise associated with renal, cardiac, or cerebrovascular involvement [2].

The presumptive diagnosis of the hemizygous form of Fabry disease can be made by demonstration of corneal dystrophy, birefringent inclusions in the urinary sediment, or lipid-containing macrophages in skin or bone marrow biopsy [2].

Angiokeratoma circumscriptum is rare and most characteristically takes the form of an extensive vascular plaque, usually present from birth. The lesion is typically situated unilaterally on the foot or distal aspect of the leg, but can occur elsewhere. A typical lesion becomes increasingly studded with hyperkeratotic papules, and may bleed readily on trauma; it is without tendency to spontaneous improvement [3, 6].

Angiokertoma circumscriptum my be indistinguishable clinically from verrucous hemangioma. The main distinction between these conditions is the presence of angiomatous capillary endothelial proliferation in the latter [7].

When thrombosis occurs within the angiokeratoma circumscritum, malignant melanoma may be mimicked clinically [8]. Association of angiokeratoma circumscriptum with angiokeratoma of the scrotum [9], angiodysplasia (Klipple-Trenaunay-Weber syndrome) Cobb syndrome, and other mixed vascular malformations have been reported [3].

Angiokeratoma circumscriptum is a nevoid hamartomatous lesion arising early in life during infancy or childhood, while the angiokeratoma corporis diffusum almost always occurs in association with enzyme disorders usually α-galactosidase-A enzyme deficiency (Anderson-Fabry disease ), an X-linked recessive disorder affecting male patients in adulthood .

The normal physical and mental development in our patient as well as normal physical and laboratory examinations are adequate reasons to exclude the systemic involvement seen in Fabry disease.

Few case reports of cutaneous variant of angiokeratoma corporis diffusum have been described in the literature [11, 12]. Absence of disease in the relatives of patients with purely cutaneous form and the apparent involvement of both males and females support the contention that this condition is a distinct clinical entity [11, 13, 14].

Small lesions may be treated by diathermy or curettage and cautery, but larger lesions will require treatment with argon laser [15], flash-lamp pumped dye laser [16], copper vapor laser [17], or surgical excision . We treated our patient by means of electrofulguration with a depilatory needle, and the outcome was acceptable (Fig. 5). To the best of our knowledge, there is no report of association between angiokeratoma corporis diffusum and circumscriptum in the literature to date.

References

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