Multiple Cutaneous Myxomas Coinciding with Repeated Cardiac Myxomas. A Syndrome

Bier, Bert; Seitz, Gerhard; Bach, Rasmus Overgaard; Volkmer, Ines; Fröhlig, Gerd

doi:10.1055/s-2007-1020342

Cited by 7 publications

(3 citation statements)

References 3 publications

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“…Bier et al (19) in 1989 reported a case perhaps more similar to our patient. The patient had a history of thyroid earcinoma and at age 25 developed multiple cutaneous myxomas.…”

Section: Discussionsupporting

confidence: 84%

Multiple cutaneous myxomas

1995

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An 11-year-old hispanic female was referred for evaluation of multiple asymptomatic papules which had slowly developed since age two. The patient had no significant medical history and no family members, including an older sibling, were similarly affected. Physical examination revealed multiple 2-6 mm flesh-colored to erythematous papules over the posterior scalp, trunk, and extremities, predominantly in a midline distribution. No lentigines, blue nevi, or evidence of endocrine ab-normalities were noted. Echocardiogram was normal with no evidence of myxoma. Six cutaneous biopsies showed myxomas, as evidenced by well-circumscribed dermal tumors composed of stellate, dendritic cells embedded in a mucinous stroma. Special stains and electron microscopy confirmed the H&E finding. Immunoperoxidase staining for Factor XIIIa was positive in the dendritic tumor cells, suggesting a relationship with dermal dendrocytes. This patient represents a case of multiple cutaneous myxomas without other components of Carney's complex of myxomas, spotty pigmentation, endocrine overactivity, and a variety of uncommon tumors. A long-term follow-up is indicated since some of the above cited elements of the syndrome could appear over time.

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“…Bier et al (19) in 1989 reported a case perhaps more similar to our patient. The patient had a history of thyroid earcinoma and at age 25 developed multiple cutaneous myxomas.…”

Section: Discussionsupporting

confidence: 84%

Multiple cutaneous myxomas

1995

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“…In a recent study, thyroid gland abnormalities, mostly benign non‐hormone‐secreting follicular adenomas, were found in over two thirds of patients with CNC (Stratakis et al, 1997). Papillary and follicular thyroid carcinomas have also been described with increased frequency in patients with CNC (Bier et al, 1989; Ain, 1995; Radin et al, 1995), leading to the suggestion that thyroid carcinomas in these patients develop in situ from precursor benign lesions (Stratakis et al, 1997), in a way similar to the hamartoma/adenoma/carcinoma sequence described elsewhere (Kinzler and Vogelstein, 1996; Bosman, 1999).…”

Section: Classification and Analyses Of Tumor Samplesamentioning

confidence: 85%

Regulatory subunit type I‐α of protein kinase A (PRKAR1A): A tumor‐suppressor gene for sporadic thyroid cancer

Sandrini

Matyakhina

Sarlis

et al. 2002

Genes Chromosomes & Cancer

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The tumor-suppressor gene encoding the cyclic AMP-dependent protein kinase A type I-alpha regulatory subunit PRKAR1A has been mapped to chromosome 17 (17q22-24) and is mutated in Carney complex, a familial neoplasia syndrome that is associated with thyroid tumors. Other genes implicated in cyclic nucleotide-dependent signaling have been investigated in thyroid tumorigenesis. We studied protein kinase A (PKA) activity in noninherited follicular thyroid adenomas and follicular, papillary, and undifferentiated (anaplastic) thyroid carcinomas. We then examined these and additional thyroid tumors for losses of the 17q22-24 PRKAR1A region, mutations of the PRKAR1A gene, and expression of its peptide product. Total PKA activity was markedly increased in carcinomas over that in adenomas, whereas the ratio of free vs. total PKA activity was decreased in cancer. Consistent with these findings, the 17q22-24 region was frequently lost in cancer but not in benign adenomas. A novel inactivating mutation of the PRKAR1A gene (leading to premature termination of the predicted protein) was found in an aggressive thyroid cancer. The tumor with PRKAR1A gene mutation, as well as the tumors with 17q allelic losses, showed decreased PRKAR1A expression by immunostaining. We conclude that PRKAR1A, the most abundant regulatory subunit of protein kinase A and a principal cyclic AMP-signaling modulator, acts as a tumor-suppressor gene in sporadic thyroid cancer. Published 2002 Wiley-Liss, Inc.

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“…Six years later, the patient presented with dyspnea and was found to have a left atrial myxoma, which was excised. A second myxoma was found on screening echocardiography 2 years later 8 . The patient of Murphy et al 5 .…”

Section: Discussionmentioning

confidence: 96%

Disseminated cutaneous myxomas in an adult

et al. 1998

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New York, NY 10029 A 45‐year‐old Hispanic man presented with a 4‐year history of progressively increasing numbers of skin‐colored, nonpruritic papules on the trunk. His past medical history was significant only for hypertension. The patient had no systemic symptoms, and he had no family history of such lesions. Physical examination revealed approximately 100 round, dome‐shaped, soft white to skin‐colored papules scattered predominantly over the back, chest (Fig. 1), and abdomen; several papules were present on the lower extremities. There was no evidence of mucosal myxomas or mucocutaneous lentigines, ephelides, or nevi. The patient's physical appearance was normal, without evidence of Cushing's syndrome, excessive growth hormone, or any other endocrinopathies. 1 Multiple cutaneous myxomas on the left chest Laboratory investigation included the following: an echocardiogram was negative for cardiac myxomas; a chest X‐ray was negative; and a stool guaiac was negative for blood. Serum protein electrophoresis was negative for paraproteinemia, and the levels of growth hormone, cortisol, and free testosterone were within normal limits. Baseline complete blood count (CBC), chemistry panel, thyroid function studies, erythrocyte sedimentation rate (ESR), antinuclear antibody, and urinalysis were unremarkable. A skin biopsy specimen revealed a large amount of amorphous bluish material separating collagen bundles within the upper and mid‐dermis (Figs 2 and 3). Within this material, there were some small spindle‐shaped and polygonal cells. An alcian blue stain demonstrated the abundance of dermal mucin. The diagnosis was compatible with cutaneous myxoma. 2 Photomicrograph showing a large amount of amorphous material in the dermis (hematoxylin and eosin, ×400) 3 At higher magnification, small spindle‐shaped and polygonal cells are seen in a mucinous stroma (hematoxylin and eosin ×40) After 3 years of clinical follow‐up, the patient has developed no other cutaneous lesions or systemic symptoms. The patient has refused further laboratory studies and echocardiography.

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Multiple Cutaneous Myxomas Coinciding with Repeated Cardiac Myxomas. A Syndrome

Cited by 7 publications

References 3 publications

Multiple cutaneous myxomas

Multiple cutaneous myxomas

Regulatory subunit type I‐α of protein kinase A (PRKAR1A): A tumor‐suppressor gene for sporadic thyroid cancer

Disseminated cutaneous myxomas in an adult

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