Infantile myofibromatosis: support for autosomal dominant inheritance

Ikediobi, Nneka I; Iyengar, Vivek; Hwang, Linda; Collins, Weldon E.; Metry, Denise

doi:10.1067/mjd.2003.333

Cited by 35 publications

(15 citation statements)

References 13 publications

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“…It has been hypothesized that there is a congenital defect in smooth muscle cells that causes an increase in the number of estrogen receptors that favor their proliferation. This hormonal stimulation could begin in fetal life from maternal estrogens [3,6,7].…”

Section: Discussionmentioning

confidence: 99%

Solitary infantile gastrointestinal myofibroma: case report

Menéndez-Arzac

Valdez-Méndez

Landa

et al. 2005

Journal of Pediatric Surgery

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Section: Discussionmentioning

confidence: 99%

Solitary infantile gastrointestinal myofibroma: case report

Menéndez-Arzac

Valdez-Méndez

Landa

et al. 2005

Journal of Pediatric Surgery

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“…There have been a few reports of an autosomal-dominant inheritance pattern in four families [1,22], but these are rare cases seen only in multifocal, systemic infantile myofibromatosis and not in patients with isolated orbital disease. Lastly, although not specifically postulated for orbital lesions, one study suggested that disease development is the result of an increased number of estrogen receptors on smooth muscle cells that may respond in utero to maternal hormones [23].…”

Section: Epidemiology and Clinical Presentationmentioning

confidence: 99%

Orbital Infantile Myofibroma: a Case Report and Clinicopathologic Review of 24 Cases from the Literature

Mynatt

Feldman²,

Thompson

2011

Head and Neck Pathol

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Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR-Ag, and CD45RB. The principle histologic differential diagnosis includes juvenile hyaline fibromatosis, fibrous hamartoma of infancy, fibromatosis coli, leiomyoma, infantile hemangiopericytoma, infantile fibrosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and lymphoma. All patients were managed with surgery. Recurrences developed in two patients at 4 and 6 months, respectively. Follow-up data was available on all but two patients (n = 22). These patients were either alive without evidence of disease (n = 18), alive but with disease (n = 3), or had died unrelated to this disease (i.e., neuroblastoma, n = 1). Orbital infantile myofibroma is a rare tumor, presenting in infancy as an enlarging mass of the orbit, with characteristic histomorphologic and immunophenotypic features. Orbital disease is usually isolated rather than part of systemic disease, and shows an excellent long-term prognosis, making appropriate separation from other conditions important.

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“…An increase in oestrogen receptors in the smooth muscle cells leading to excessive in utero stimulation by maternal hormones has been postulated [10,11] Pathology and differential diagnosis…”

Section: Aetiologymentioning

confidence: 99%