Primary Systemic Amyloidosis with Multisystem Involvement: A Case Report

Dear Editor,

A fifty-eight-year-old woman presented with multiple skin-colored to hyperpigmented grouped papules over both upper eyelids, external nares, and ear canals for four months. There was a gross alteration in the morphology of the tongue with a cobblestone appearance and discoloration. A few mucosal papules were distributed over the buccal mucosa and mucosal aspect of the upper and lower lips [Figure 1a and b]. There were swelling and diffuse infiltration over the fingers. She had hoarseness of voice and dysphagia more with solids. Considering the morphology of the lesions, primary systemic amyloidosis, lipoid proteinosis, and xanthoma disseminatum were kept as differential diagnoses.

Figure 1.

(a) Multiple skin-colored to hyperpigmented translucent waxy papules few coalescing to form plaques present over the bilateral upper eyelids and external nares. A few tiny skin-colored papules are present over the chin. (b) Gross disruption of the morphology of the tongue with the presence of pale-reddish papules giving a cobblestone appearance. A few mucosal papules are present over the inner aspect of the upper and lower lips and the buccal mucosa

On dermoscopic examination, the papules over the eyelids and external nares showed multiple pale-colored globules and cyst-like lesions [Figure 2]. Histopathological examination of papules over the eyelids with hematoxylin and eosin staining showed abundant pale eosinophilic amorphous deposits in the dermis. Congo red staining revealed salmon pink-colored amyloid deposits confirming the diagnosis of primary systemic amyloidosis [Figure 3a and b].

Figure 2.

Dermoscopic examination of the papules over the eyelids showing multiple pale-colored globules and cyst-like lesions (Dermalite 4,10x, polarised)

Figure 3.

(a) Abundant pale eosinophilic deposits in the dermis (H&E, 40x). (b) Salmon pink-colored amyloid deposits in the dermis (Congo red stain, 40x)

We investigated the patient further to see if we can determine the cause of amyloidosis. A complete hemogram with peripheral smear showed microcytic hypochromic anemia of moderate degree. Renal function tests, liver function tests, serum electrolytes, and triglycerides were within normal limits. Her serum protein levels were low, and 24-hour urinary protein was found to be 1654 mg. Ultrasound of the abdomen was suggestive of bilateral grade 3 renal parenchymal disease. The patient had reduced global longitudinal strain with relative sparing of the left ventricular apical part in a two-dimensional echocardiogram [Figure 4]. Serum protein electrophoresis showed a normal pattern, and the urine test for Bence Jones protein was negative. Radiological examinations including X-ray of the chest, X-ray of the skull, and long bones were normal. A nerve conduction study revealed pure motor axonal neuropathy. Multiple papules and plaques in the vestibule were observed in the direct nasal endoscopic examination. False and true vocal cords were edematous and bulky on video laryngoscopic examination. A bone marrow aspiration and trephine biopsy were carried out, and the findings were suggestive of reactive marrow with micronormoblastic maturation due to anemia. No underlying hematological involvement such as plasma cell dyscrasia or multiple myeloma was present in this case. Patients with primary systemic amyloidosis with no underlying hematological abnormality have been described in the literature before.[1] Our patient was managed symptomatically with supportive treatment, and she is under regular follow-up.

Figure 4.

Echocardiogram showing reduced global longitudinal strain with a value of 12.9%

The clue toward primary systemic amyloidosis was the presence of translucent waxy papules over the eyelids, nostrils, and external auditory canal. A triad of macroglossia, carpal tunnel syndrome, and mucocutaneous lesions is also described in patients with primary systemic amyloidosis.[2]

Cardiac involvement was suggested by the reduction in global longitudinal strain in our patient.[3] A cherry-like apical sparing strain on two-dimensional speckle-tracking electrocardiography was suggested as an important marker of cardiac involvement in primary systemic amyloidosis.[4]

Our patient had pure motor axonal neuropathy as confirmed by the nerve conduction studies. The finding of asymmetric pure motor axonal neuropathy of extremities is very uncommon in primary systemic amyloidosis.[5]

We report this case because the patient presented with extensive cutaneous lesions and multisystem involvement in the form of pure motor axonal neuropathy and reduction in the global longitudinal strain. No underlying cause for the systemic amyloidosis was established even after an elaborate workup. This suggests that patients with primary systemic amyloidosis need not necessarily have any underlying hematological or other anomalies. The patient should be followed up regularly every three months to detect any subsequent hematological progression. It is important to thoroughly investigate every single case of systemic amyloidosis to see if there is any vital organ involvement as this would predict the course of the disease and probable outcome.

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