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Year : 2008  |  Volume : 74  |  Issue : 4  |  Page : 389-391

Anderson-Fabry's disease with marfanoid features

Department of Dermatology, Venereology, and Leprology, Grant Medical College and Sir JJ Groups of Hospitals, Mumbai, India

Correspondence Address:
Amar Surjushe
Department of Dermatology, Venereology, and Leprology, Grant Medical College & Sir JJ Groups of Hospitals, Mumbai 400 008
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.42911

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How to cite this article:
Surjushe A, Jindal S, Sao P, Medhekar S, Saple D G. Anderson-Fabry's disease with marfanoid features. Indian J Dermatol Venereol Leprol 2008;74:389-91

How to cite this URL:
Surjushe A, Jindal S, Sao P, Medhekar S, Saple D G. Anderson-Fabry's disease with marfanoid features. Indian J Dermatol Venereol Leprol [serial online] 2008 [cited 2020 Oct 27];74:389-91. Available from:


Anderson-Fabry's disease also known as angiokeratoma corporis diffusum universale, is a disorder caused by the deficiency of the lysosomal enzyme, alpha-galactosidase A. It results in progressive deposition of uncleaved neutral glycosphingolipids, predominantly, alpha-galactosyl-lactosyl ceramide (trihexosyl ceramide), within the lysosomes of endothelial, perithelial, and smooth muscle cells, autonomic nervous system, kidneys, eyes and heart. [1] This disease is rare and was first independently described by Anderson and Fabry in 1898. [2] We present here a case with marfanoid features.

A 12 year-old male patient presented with a tingling and burning sensation along the extremities with reddish-brown eruptions on his abdomen, back, buttocks, genitals and thighs, since last two years. The skin lesions started around the umbilicus and subsequently spread to the other sites. There was no history of consanguinity or of any similar disease in his family. There was no history of chest pain, breathlessness, oliguria, or any eye complaints.

On general examination, his blood pressure was found to be 180/90 mm of Hg. He had arachnodactyly, a high arch palate, pes cavus, pectus excavatum with an arm span that was greater than his height, and positive thumb and wrist signs, which were suggestive of marfanoid features. Multiple angiokeratomas were present on his back, around the umbilicus, genitals and thighs in a "swimming suit" pattern [Figure 1]. Ophthalmic examination showed corneal opacities, tortuous retinal vessels and limbal hypermalanosis [Figure 2]. Hemogram, liver and renal function tests, and X-ray of the chest were normal. Electrocardiogram showed left ventricular hypertrophy and his echocardiography and lipid profile were normal. Routine urine examination and 24 hour urine showed proteinuria. Examination of the urinary sediment by polarizing microscopy showed birefringent, lipid-containing cells with the "Maltese cross" pattern [Figure 3]. Histopathology of the skin lesions showed features of angiokeratoma. Due to the lack of facilities however, specific tests to detect alpha-galactosidase-A deficiency and urinary ceramide trihexoside could not be performed. The patient and parent were counseled and the patient was started on antihypertensive medications (oral atenolol and enalapril), low-dose aspirin, and oral carbamazepine, and was advised regular follow-up for cardiac and renal monitoring.

 Anderson-Fabry disease More Details is a rare, X-linked, inborn error of glycosphingolipid catabolism, resulting from mutations in the alpha-galactosidase A gene at Xq22.1. [3] The disease usually starts in early childhood and manifests with acral paresthesia. Renal pathology is one of its hallmarks and progressive glycosphingolipids deposition in the kidney results in proteinuria. During the initial stages, protein, casts, red cells, and desquamated kidney and urinary tract cells may appear in the urine. Polarization microscopy of the urinary sediment demonstrates birefringent lipid globules with the characteristic Maltese cross configuration, which was also seen in our case. Gradual deterioration of renal function and the development of azotemia usually occur in the 3 rd to 4 th decades of life.

The earliest ocular lesion is a diffused haziness in the subepithelial layer and later, whorl-like corneal opacities appear. Anterior capsular deposits in the lens or granular, spoke-like deposits on the posterior lens termed "Fabry cataract"; tortuosity of retinal vessels and conjunctival vein aneuysmal dilation are also found. [4] Our patient had corneal opacities and tortuous retinal vessels.

Prognosis is bad and patients usually die in their third or fourth decade of life from stroke or uremia. Treatment is symptomatic and enzyme replacement therapy can reverse substrate storage in the lysozyme. [5] To the best of our knowledge, this is the first report of association of Fabry's disease with Marfanoid features.

  References Top

1.Morgan SH, Crawford M d'A. Anderson-Fabry disease: A commonly missed diagnosis. Br Med J 1988;297:872-3.  Back to cited text no. 1    
2.Imperial R, Helwig EB. Angiokeratoma: A clinicopathological study. Arch Dermatol 1967;95:165-75.  Back to cited text no. 2    
3.Larralde M, Boggio P, Amartino H, Chamoles N. Fabry disease: A study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Arch Dermatol 2004;140:1440-6.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]
4.Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol 1979;97:671-6.  Back to cited text no. 4  [PUBMED]  
5.Ashley GA, Desnick RJ, Gordon RE, Gordon JW. High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice. Implications for the treatment of Fabry disease. J Investig Med 2002;50:185-92.  Back to cited text no. 5    


  [Figure 1], [Figure 2], [Figure 3]


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