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Cutaneous variant of angiokeratoma corporis diffusum

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Cutaneous variant of angiokeratoma corporis diffusum
Chandrashekar Laxmisha, Devinder M Thappa, and Kaliaperumal Karthikeyan
Dermatology Online Journal 9 (1): 13

Department of Dermatology and STD, JIPMER, Pondicherry - 605 006, Indiadmthappa@vsnl.net; dmthappa@jipmer.edu

Abstract

A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 22-year-old patient presenting with normal physical and mental development is reported. ACD presenting with skin lesions alone is a rare but specific clinical entity, which differs from hereditary sphingolipidoses such as Fabry's disease.



Case report

A 22-year-old male, born of non-consanguineous parents, presented to the dermatology outpatient clinic with a complaint of the sudden appearance of asymptomatic, red-purple papules over the trunk and back which had progressed over the past three years. These papules slowly increased in number and size. There was no history of anhidrosis, abdominal or bone pain, acral paraesthesia, chest pain, or loss of visual acuity. No family member was affected by this disorder. On 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 dorsal trunk and limbs in a bilateral and symmetrical distribution, between the umbilicus and knees (Figures 1,2,3,4). The hips, back, thighs, penis, scrotum (Figure 5) and nail folds were involved. Larger papules were hyperkeratotic. Mucosal surfaces were spared.


Figure 1Figure 2
Fig. 1 Angiokeratoma corporis diffusum lesions over the back
Fig. 2 Angiokeratoma corporis diffusum lesions over the lateral aspect of the trunk

Figure 3Figure 4
Fig. 3 Angiokeratoma corporis diffusum lesions over the thighs
Fig. 4 Close up of angiokeratoma lesions over the trunk showing clusters of individual, punctate dark red to blue - black papules

Figure 5
Fig. 5 Angiokeratoma lesions over the scrotum

On investigation, his hemogram, urine examination, CXR, abdominal ultrasound, slit lamp examination of the cornea and echocardiography were within normal limits. Histopathology of a papule from the trunk showed the presence of numerous, dilated, thin-walled spaces containing red blood cells and lined by endothelial cells in the papillary dermis (Figures 6,7). The epidermis was hyperkeratotic and thinned, but mildly acanthotic at places. The endothelial cells lining the spaces did not demonstrate cytoplasmic vacuolation by light microscopy. On the basis of the above findings, a final diagnosis of cutaneous angiokeratoma corporis diffusum (ACD) was made. We could not carry out enzyme deficiency detection studies in our case because of lack of such investigation facilities in our institution.


Figure 6Figure 7
Fig. 6 Photomicrograph showing the presence of dilated, thin walled spaces containing red blood cells in the papillary dermis (Hematoxylin & Eosin x 40)
Fig. 7 Photomicrograph of the same lesion in higher magnification showing widely spaced endothelial cells lined space containing red blood cells in the papillary dermis (Hematoxylin & Eosin x 100)

Discussion

The term angiokeratoma is applied to several distinct, unrelated conditions with cutaneous vascular lesions, the histology of which shows superficial dermal vascular ectasia with overlying hyperkeratosis of the epidermis.[1] Different types of angiokeratomas have been described. They are i) the generalized systemic type - angiokeratoma corporis diffusum (ACD) of Fabry; ii) the localized, bilateral form occurring on the dorsa of fingers and toes - angiokeratoma of Mibelli; iii) the localized scrotal form - angiokeratoma of Fordyce; iv) the multiple papule and plaque type- angiokeratoma circumscriptum; and v) the solitary, papular angiokeratoma. [1] Systemic ACD is an unusual X-linked lysozymal disorder characterized by deficiency of α-galactosidase.[2,3,4] The clinical manifestations of this disease predominantly result from the progressive deposition of Gal-Gal-Glc-Cer in the vascular endothelium.[4] 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 (angiokeratoma), hypohidrosis, and characteristic corneal and lenticular opacities. With advancing age, the progressive accumulation of the ceramide leads to early demise due to renal, cardiac, or cerebrovascular involvement.

The vascular cutaneous lesions (angiokeratoma) of ACD manifest as numerous clusters of tiny red papules in a symmetrical distribution, usually in the "bathing trunk" area.[2] Other features include attacks of excruciating distal extremity pain, usually beginning between the ages of 5 to 15 years. Hypohidrosis, anhidrosis, varicose veins, stasis-related edema, hypertension, cerebrovascular attacks, coronary artery disease, renal disease and ocular involvement are common manifestations of the disease. [3] The presumptive diagnosis of the hemizygous form of systemic ACD can be made by careful ophthalmic examination (corneal dystrophy), demonstration of birefringent inclusions in the urinary sediment - Mulberry cells, and skin biopsy - swollen and vacuolated endothelial cells in vascular spaces. [4] Although often considered synonymous with Fabry's disease, identical clinical appearances have been described in patients with other enzymatic deficiencies including β-galactosidase, neuraminidase and L-fucosidase. [5]

The normal physical and mental development in our patient as well as his normal eye and laboratory examinations are adequate reasons to exclude the systemic involvement seen in Fabry's disease. Data is scarce on the exclusively cutaneous form of ACD. Five case reports of this condition have been described in the literature to date.[5] In fact, it is unclear whether ACD affecting only the skin is best interpreted as a forme fruste of Fabry's disease or as a clinical entity by itself. Absence of disease in the relatives of patients with purely cutaneous ACD and the seemingly equal involvement of males and females support the suggestion that this condition is a distinct clinical entity.[5] Our case report highlights this rare cutaneous variant of ACD.

References

1. Kumar MV, Thappa DM, Shanmugam S, Ratnakar C. Angiokeratoma circumscriptum of the oral cavity. Acta Derm Venereol (Stockh) 1998;78: 472.

2. Calonje E, Jones EW. Vascular tumours, in Lever's histopathology of the skin, ed. Elder D, Elenitsas R, Jaworsky C. Johnson B J, 8th edn. Lippincott - Raven, Philadelphia 1997;889-932.

3. Black MM, Gawkrodger DJ, Seymour CA, Weismann K. Metabolic and nutritional disorders, in: Rook/ Wilkinson/ Ebling Textbook of Dermatology, ed. Champion RH, Burton JL, Burns DA, Breathnach SM, Blackwell - Science, Oxford 1998; 2577-2677.

4. Desnick RJ, Eng CM. Fabry's disease: µ-galactosidase A deficiency (angiokeratoma corporis diffusum universale), in Fitzpatrick's Dermatology in General Medicine, ed. Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB, Vol.2, 5th edn, McGraw - Hill, NewYork 1999; 1812-1825.

5. Gasparini G, Sarchi G, Cavicchini S, Bertagnolio B. Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's Syndrome. Clin Exp Dermatol 1992; 17:56-59.

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