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  Table of Contents    
CASE REPORT  
Year : 2014  |  Volume : 57  |  Issue : 3  |  Page : 460-462
Cutaneous myxoma: An important clue to Carney complex


1 Professor, Department of Pathology, Grant Government Medical College and Sir J. J. Group of Hospitals, Byculla, Mumbai, Maharashtra, India
2 Assistant Professor, Department of Pathology, Grant Government Medical College and Sir J. J. Group of Hospitals, Byculla, Mumbai, Maharashtra, India
3 Ex-Resident, Department of Pathology, Grant Government Medical College and Sir J. J. Group of Hospitals, Byculla, Mumbai, Maharashtra, India
4 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

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Date of Web Publication14-Aug-2014
 

   Abstract 

A 22-year-old male became unconscious and was found to have left-sided weakness and facial asymmetry. Previously, he had up to 35 excisions for subcutaneous swellings all over the body, commencing at age 6 years. Examination revealed small nodular skin lesions on the neck, the eyelid and hard palate. Two-dimensional echocardiography showed two left atrial masses. Histopathological examination of the subcutaneous lesions showed cutaneous myxomas with a prominent epithelial component. The left atrial masses were also myxomas. The case attempts to highlight the importance of histopathological examination of subcutaneous swellings. Cutaneous and subcutaneous manifestations, including cutaneous myxomas, are among the earliest presentations in Carney's complex and may herald potentially fatal cardiac myxoma. The prominent epithelial component in cutaneous myxomas may be confusing and cause diagnostic difficulties.

Keywords: Cardiac myxoma, Carney complex, cutaneous myxoma, lentingines

How to cite this article:
Lanjewar DN, Bhatia VO, Lanjewar SD, Carney J A. Cutaneous myxoma: An important clue to Carney complex. Indian J Pathol Microbiol 2014;57:460-2

How to cite this URL:
Lanjewar DN, Bhatia VO, Lanjewar SD, Carney J A. Cutaneous myxoma: An important clue to Carney complex. Indian J Pathol Microbiol [serial online] 2014 [cited 2020 May 29];57:460-2. Available from: http://www.ijpmonline.org/text.asp?2014/57/3/460/138771



   Introduction Top


Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex (cardiac and mammary myxomas, spotty pigmentation and endocrine overactivity). [1] The syndrome is transmitted as an autosomal dominant trait and is genetically heterogeneous, linkage to two loci at chromosomes 2p16 and 17 q22 was reported. [2] In addition to the cutaneous and mammary locations, myxomas in the Carney complex have occurred in the abdomen and pelvis. [1] Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component. It is important to correctly identify cutaneous myxoma because the tumor may be a harbinger of cardiac myxoma, which is observed in one-fifth of patients with the Carney complex and has also been responsible for serious embolic complications in equal number. [3],[4],[5]


   Case report Top


A 22-year-old loom worker became unconscious and was found to have left-sided weakness and facial asymmetry. The patient had a history of transient ischemic attacks over the last 4 years. He had multiple asymptomatic swellings of 0.5-2 cm in size over his body, mainly on the scalp, neck, chest, abdomen, arms, forearms, thighs, and buttocks since the age of 6 years for which he had up to 35 surgical excisions of skin nodules over a period of 4-5 years; the nodules were not examined microscopically. There was no history of similar lesions in the patient's primary relatives. During this period, he developed palpitations, dyspnea on exertion and presyncopal attacks. Physical examination showed multiple round firm swellings 0.5-2 cm in diameter over the scalp, neck, right lower eyelid and the hard palate and none of the skin nodules showed ulceration or exudation. Most skin nodules appeared white or flesh colored. There were multiple scars resulting from excision of the previous cutaneous tumors and 30-35 lentigines scattered all over the body. The vermilion border of lips and conjunctiva did not show lentigines [Figure 1]. Neurologic examination showed left hemiparesis with ipsilateral supranuclear facial palsy. Computed tomography scan of the brain showed right lacunar infarcts in the territory of the right middle cerebral artery. Auscultation of the heart revealed a loud first heart sound and a mid-diastolic murmur with a soft systolic murmur at the mitral area, which increased on expiration, suggestive of predominant mitral stenosis and mitral regurgitation. Two-dimensional echocardiography (ECHO) with multiplanar transesophageal ECHO showed two masses in the left atrium, one was 3 cm × 1.5 cm size attached to the intraatrial septum near inferior limbus of fossa ovalis and another attached to the base of anterior mitral leaflet, which popped up into the left ventricular cavity during the diastolic phase [Figure 2]. Chest X-ray showed cardiomegaly with a straightening of the left atrial border. The pulmonary venous flow pattern was suggestive of significant mitral regurgitation. Routine laboratory investigations showed normal peripheral blood, renal, and liver parameters.
Figure 1: Clinical photograph shows raised gray white cutaneous nodules on left chin and anterior part of neck along with lentingens on upper part of chest

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Figure 2: Two-dimensional echocardiography showing left atrial myxoma

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The cutaneous swelling from the neck covered with the skin was excised for histopathological examination. With hematoxylin and eosin staining the lesion had an overall basophilic appearance. Histological examination showed a well-circumscribed subcutaneous lesion that had produced a polypoid skin mass. The associated epidermis showed an anastomosing pattern of basaloid epithelial strands, some connected to the epidermis while others were isolated in anastomosing epithelial strands extending deeply into the dermis without a parent connection to the epidermal component. Numerous proliferating blood vessels were also present in the mesenchymal component [Figure 3]a and b. The tumor was a hypocellular, mesenchymal and composed of polygonal to stellate cells with multipolar to bipolar cytoplasmic processes lying in large pools of the mucinous matrix [Figure 4]a. The tumor stained strongly with Alcian blue at pH 2.5 [Figure 4]b. The patient underwent cardiac surgery for removal of the two atrial masses that were myxomas on histopathological examination [Figure 5]a and b. A genetic study of the patient was not done. Unfortunately, the patient lost to follow-up.
Figure 3: (a and b) Microphotograph of cutaneous myxoma shows anastomosing basaloid epithelial strands attached to the epidermis and also deep in the dermis, amidst the hypocellular myxoid stroma along with vascular proliferation

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Figure 4: (a) The microphotograph of cuatneous myxoma shows appendgeal tissue with hypocellular stroma and myxoid background. (b) The microphotograph of Alcian blue stain shows intense positivity for mucin

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Figure 5: (a) Microscopy of cardiac myxoma shows of hypocellualr myxoid stroma along with stellate cells (H and E, ×200). (b) Microscopy shows large pool of mucin along with congested blood vessels (Alcian blue, ×400)

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   Discussion Top


The Carney complex is a rare disease. So far 600 patients worldwide have been reported by the National Institute of Health - Mayo Clinic (USA) and the Cochin Center (France) by January 2008. [6] Our patient had subcutaneous swellings since the age of 6 years that were excised but, unfortunately, not examined microscopically, therefore, went unappreciated. The patient ultimately developed the hemiparesis as the result of embolization of the left atrial myxoma. At this time, one of the cutaneous myxomas was examined microscopically and found to be a myxoma with a prominent epithelial component, and the connection between the cutaneous and cardiac myxoma was made. Young patients with widely distributed cutaneous tumors with a tendency to recur following excision should be suspected of having cutaneous myxoma. [4]

In the past, patients with complex succumbed to the cardiac myxoma or were seriously disabled by it. These events emphasize the necessity for physicians to be aware of the special cutaneous conditions such as pigmentary (lentigines and blue nevi) and tumorous (myxomas). [7],[8]

Cutaneous myxomas are noted in 81% of cases prior to the diagnosis of cardiac myxoma. [4] The epithelial component associated with cutaneous myxomas may appear as a keratinous cyst, an epithelial proliferation suggestive of poorly induced trichofolliculoma with or without focal sebaceous differentiation, or as anastomosing thin epithelial strands. This epithelial component may lead to misinterpretation of the lesion as trichofolliculoma, basal cell epithelioma or Bazex syndrome. [4] The extensive epithelial proliferation in our case mimicked basal cell carcinoma. However, the presence of hypocelluar myxoid stroma with spindle, stellate cells and vascular proliferation helped in making the correct diagnosis in the case. The epithelial component probably originated from the outer sheath of the hair follicles. Isolated strands of epithelium in the dermis are likely to be derived from cells of the outer sheath, which have become disconnected from the parent follicle and are subsequently incorporated within the myxoma where they proliferate. It has been suggested that mesenchymal cells of some myxomas have an epithelial inductive potential. [4]

A left atrial myxoma may occur silently and be heralded by cutaneous tumors. This case report documents cutaneous clinical presentation that initially was overlooked. To the best of our knowledge, only three cases of coexistent cutaneous myxoma and cardiac myxoma are reported in the Indian literature. [9],[10]

 
   References Top

1.
Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985;64:270-83.  Back to cited text no. 1
    
2.
Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89-92.  Back to cited text no. 2
    
3.
Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc 1986;61:165-72.  Back to cited text no. 3
    
4.
Carney JA, Headington JT, Su WP. Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol 1986;122:790-8.  Back to cited text no. 4
    
5.
Carney JA. Carney complex: The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol 1995;14:90-8.  Back to cited text no. 5
    
6.
Stratakis CA, Horvath A. Carney complex, Gene reviews. Carney syndrome, Familial Myxoma. Seattle: University of Washington; 2008.  Back to cited text no. 6
    
7.
Vandersteen A, Turnbull J, Jan W, Simpson J, Lucas S, Anderson D, et al. Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Eur J Pediatr 2009;168:1401-4.  Back to cited text no. 7
    
8.
Shetty Roy AN, Radin M, Sarabi D, Shaoulian E. Familial recurrent atrial myxoma: Carney's complex. Clin Cardiol 2011;34:83-6.  Back to cited text no. 8
    
9.
Mahilmaran A, Seshadri M, Nayar PG, Sudarsana G, Abraham KA. Familial cardiac myxoma: Carney's complex. Tex Heart Inst J 2003;30:80-2.  Back to cited text no. 9
    
10.
Borkar SS, Kamath SG, Kashyap N, Sagar SC, Rao L, Warrier R, et al. Carney complex: case report and review. J Cardiothorac Surg 2011;6:25.  Back to cited text no. 10
    

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Correspondence Address:
Dhaneshwar N Lanjewar
Department of Pathology, Grant Government Medical College and Sir J. J. Group of Hospitals, Byculla, Mumbai - 400 008, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.138771

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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

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