Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Adam, Margaret P; Abramowsky, Carlos R.; Brady, April N.; Coleman, Karlene; Todd, N. Wendell

doi:10.1002/bdra.20338

Cited by 10 publications

(7 citation statements)

References 28 publications

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“…Rat embryos developing with late stage nutritional Vitamin A deficiency exhibit defects in salivary gland development (See et al, 2008). In humans, exposure to excessive RA in utero has been associated with salivary gland aplasia (Adam et al, 2007). These observations indicate that salivary gland development is disrupted if RA signaling is insufficient or excessive.…”

Section: Discussionmentioning

confidence: 99%

Retinoic acid regulates embryonic development of mammalian submandibular salivary glands

Wright

Buenger

Abashev

et al. 2015

Developmental Biology

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Organogenesis is orchestrated by cell and tissue interactions mediated by molecular signals. Identification of relevant signals, and the tissues that generate and receive them, are important goals of developmental research. Here, we demonstrate that Retinoic Acid (RA) is a critical signaling molecule important for morphogenesis of mammalian submandibular salivary glands (SMG). By examining late stage RA deficient embryos of Rdh10 mutant mice we show that SMG development requires RA in a dose-dependent manner. Additionally, we find that active RA signaling occurs in SMG tissues, arising earlier than any other known marker of SMG development and persisting throughout gland morphogenesis. At the initial bud stage of development, we find RA production occurs in SMG mesenchyme, while RA signaling occurs in epithelium. We also demonstrate active RA signaling occurs in glands cultured ex vivo, and treatment with an inhibitor of RA signaling blocks growth and branching. Together these data identify RA signaling as a direct regulator of SMG organogenesis.

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Section: Discussionmentioning

confidence: 99%

Retinoic acid regulates embryonic development of mammalian submandibular salivary glands

Wright

Buenger

Abashev

et al. 2015

Developmental Biology

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“…RMH is a rare, benign, congenital tumor, with 46 prior cases having been reported (Table ; ). Most cases are described as single papules or pedunculated, mobile lesions.…”

Section: Discussionmentioning

confidence: 99%

Biopsy‐Proven Spontaneous Regression of a Rhabdomyomatous Mesenchymal Hamartoma

Mazza

Linnell

Votava

et al. 2014

Pediatric Dermatology

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Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare, benign, congenital tumor of the dermis and subcutaneous tissue comprised of skeletal muscle and adipose and adnexal elements. Although the majority of cases are an incidental finding in otherwise healthy patients, some have been reported in association with other anomalies. We present a full-term boy evaluated on day 2 of life for two lesions located on the midline of the lower back and right buttock that each appeared clinically as an atrophic, pink plaque. Ultrasound of the midline lesion revealed an underlying lipomyelomeningocele with a tethered cord in the spinal canal. Histopathology of the right buttock cutaneous lesion was consistent with a diagnosis of RMH. Surgical excision was performed on the midline intradural lipoma and the lesion on the buttock was monitored clinically. Repeat biopsy of this site at 1 year of age revealed complete spontaneous regression. This case highlights three interesting features: the association with an occult spinal dysraphism lipomyelomeningocele and tethered cord, the clinical presentation of an atrophic plaque as opposed to the more commonly reported raised lesions, and the phenomenon of spontaneous regression of the lesion. Most importantly, this final feature of regression in our patient suggests that, in the absence of symptoms, clinical observation of RMH lesions is warranted for spontaneous regression for 1 to 2 years provided that no functional deficit is noted and that the cutaneous or deeper lesions are not causing a medical problem.

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“…While fusion of the dentate nuclei has been described in pathology specimens and occasionally by imaging, the dentate nuclei were not visualized well enough to include in our analysis. Fusion of the tonsils strongly correlated with severity of cerebellar hemisphere (Adam et al, 2007).…”

Section: Box 1 Definition Of Key Imaging Featuresmentioning

confidence: 90%

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

Ishak

Dempsey

Shaw

et al. 2012

Brain

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138

144

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Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes trigeminal anaesthesia, towering skull shape and dysmorphic features. Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-oesophageal fistula, renal anomalies, limb defects (VACTERL) association. Based on a comprehensive evaluation of neuroimaging findings in 42 patients with rhombencephalosynapsis, we propose a spectrum of severity, ranging from mild (the partial absence of nodulus, anterior and posterior vermis), to moderate (the absence of posterior vermis with some anterior vermis and nodulus present), to severe (the absence of posterior and anterior vermis with some nodulus present), to complete (the absence of the entire vermis including nodulus). We demonstrate that the severity of rhombencephalosynapsis correlates with fusion of the tonsils, as well as midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum. Rhombencephalosynapsis is also associated with multiple forebrain abnormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pellucidum and, in rare patients, atypical forms of holoprosencephaly. The frequent association between rhombencephalosynapsis and aqueductal stenosis prompted us to evaluate brain magnetic resonance images in other patients with aqueductal stenosis at our institution, and remarkably, we identified rhombencephalosynapsis in 9%. Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features. In summary, our data provide improved diagnostic and prognostic information, and support disruption of dorsal-ventral patterning as a mechanism underlying rhombencephalosynapsis.

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Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Abstract: We hypothesize that the findings of bilateral microtia with aural atresia and rhabdomyomatous hamartomata containing salivary and muscle tissue in the area of the palatine tonsils may represent a newly recognized association, which may have a teratogenic and/or genetic etiology.

Cited by 10 publications

References 28 publications

Retinoic acid regulates embryonic development of mammalian submandibular salivary glands

Retinoic acid regulates embryonic development of mammalian submandibular salivary glands

Biopsy‐Proven Spontaneous Regression of a Rhabdomyomatous Mesenchymal Hamartoma

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

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