Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes

Stefanko, Nicole; Davies, Olivia M. T.; Beato, María; Blei, Francine; Drolet, Beth A.; Fairley, Janet A.; Frieden, Ilona J.; Galligan, Eloise R.; Goddard, Deborah S.; Howard, Renee; Husain, Sameera; Lauren, Christine T.; López-Gutiérrez, Juan Carlos; MacArthur, Carol J.; Metry, Denise; Morel, Kimberly D.; Niedt, George W.; Garzon, María C.; Sokumbi, Olayemi; Siegel, Dawn H.

doi:10.1111/pde.14006

Cited by 17 publications

(18 citation statements)

References 23 publications

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“…RMH cases may also be associated with congenital anomalies. 2,36–38 RMH is superficially located and characterized by groups of mature skeletal muscle oriented perpendicular to the surface epithelium along with adipose and adnexal structures and occasionally blood vessels and nerves. 1 Depending on the clinical context and degree of skeletal maturation, the differential diagnosis for RMH may include both fetal rhabdomyoma and embryonal RMS.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights

et al. 2021

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Objectives Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign tumors with rhabdomyomatous differentiation including seven rhabdomyomatous mesenchymal hamartomas, four fetal rhabdomyomas, and one benign triton tumor, analyzing myogenic markers as well as clinicopathologic and molecular features. A review of the literature was also performed with an emphasis on myogenic marker expression and correlation with molecular features. Methods and Results Cases obtained from three tertiary pediatric hospitals were retrospectively reviewed. Eleven of twelve cases expressed myogenin in rare to greater than 15% of cells. Five of nine cases had rare to 70–80% of cells positive for MyoD1. One fetal rhabdomyoma demonstrated homozygous deletions in ZEB2. The benign triton tumor harbored a CTNNB1 mutation. Review of the literature identified 160 pediatric benign tumors with skeletal muscle differentiation of which 9 reported myogenin positivity. Conclusions Myogenin and MyoD1 may be variably expressed in benign lesions with skeletal muscle differentiation. Recognition of key morphologic features remains critical to diagnose these lesions and, in rhabdomyoma, to exclude malignancy. Our series expands the knowledge of the relationship between rhabdomyoma and rhabdomyosarcoma (RMS) by identifying a shared molecular alteration in ZEB2.

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Section: Discussionmentioning

confidence: 99%

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights

et al. 2021

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“…Similar genetic abnormalities might be responsible for RMH in humans. A recent study showed the relation between aberration of mesenchymal cells during development and RMH 14 . Watchful waiting is recommended; however, surgery can be done.…”

Section: Discussionmentioning

confidence: 99%

Rhabdomyomatous mesenchymal hamartoma presenting as telangiectasia in a 57‐year‐old man

et al. 2021

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Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital malformation of the dermis and subcutaneous tissue. Usually, RMH occurs in the midline of the face and neck region. We described a case of RMH presenting as telangiectasia in a 57‐year‐old man with a history of pityriasis lichenoides chronicus. Histopathological examination revealed a subepidermal haphazard proliferation of striated muscular tissue perpendicular to the epidermis. These bundles of striated muscular tissue were admixed with adnexal structures. The diagnosis was consistent with RMH. RMH is more common in the neonatal period or in young children, but we should consider it as part of a differential diagnosis in older adults as well.

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“…Of these congenital RMHs, 23% (n = 11) were associated with congenital anomalies 2 . A wide variety of congenital anomalies have been reported with RMH and include amniotic band syndrome, 1,3 cleft lip or palate defects, 1,3 auricular anomalies, 4 ocular anomalies, 3,4 dermoid cyst, 5 thyroglossal duct sinus or cyst, 6 spinal dysraphism, 7 infantile hemangiomas, 3 LUMBAR, 7 and PHACE syndromes 8 …”

Section: Discussionmentioning

confidence: 99%

“…2 A wide variety of congenital anomalies have been reported with RMH and include amniotic band syndrome, 1,3 cleft lip or palate defects, 1,3 auricular anomalies, 4 ocular anomalies, 3,4 dermoid cyst, 5 thyroglossal duct sinus or cyst, 6 spinal dysraphism, 7 infantile hemangiomas, 3 LUMBAR, 7 and PHACE syndromes. 8 Midline congenital lesions of the head, neck, and chest include a broad differential. Thyroglossal cysts typically present on the midline neck and have the potential to communicate with the base of the tongue or the pharynx, causing movement with swallowing.…”

Section: Discussionmentioning

confidence: 99%

Congenital midline nodules on the chin and sternum

Zarbo

Luk

Shwayder

et al. 2020

Pediatric Dermatology

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Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes

Cited by 17 publications

References 23 publications

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights

Rhabdomyomatous mesenchymal hamartoma presenting as telangiectasia in a 57‐year‐old man

Congenital midline nodules on the chin and sternum

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