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Rhabdomyomatous mesenchymal hamartoma in the head and neck region: Case reports and literature review of a rare occurrence
International Journal of Pediatric Otorhinolaryngology Extra 7 (2012) 149–153
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International Journal of Pediatric Otorhinolaryngology Extra journal homepage: www.elsevier.com/locate/ijporl
Case report
Rhabdomyomatous mesenchymal hamartoma in the head and neck region: Case reports and literature review of a rare occurrence J. Saliba b, F. Razaghi a, V.H. Nguyen a, J.J. Manoukian b, L.H.P. Nguyen b,* a
Department of Pathology, Montreal Children’s Hospital, McGill University Health Center, 2300 Tupper, Suite D-469, Montreal, Quebec H3H 1P3, Canada Department of Otolaryngology – Head and Neck Surgery, Montreal Children’s Hospital, McGill University Health Center, 2300 Tupper Street, Suite B-240, Montreal, Quebec H3H 1P3, Canada
b
A R T I C L E I N F O
S U M M A R Y
Article history: Received 23 April 2012 Accepted 2 July 2012 Available online 25 July 2012
Rhabdomyomatous mesenchymal hamartoma (RMH) is an uncommon congenital lesion typically involving the midline structures of the head and neck. Although benign, it is sometimes associated with other congenital malformations. The present study describes three cases of RMH: a 2-month-old girl with a left nostril mass, a 3-year-old boy with a midline neck mass and a 2-month-old boy with a lesion near the sternal notch. The objectives of this report are to inform otolaryngologists about the clinical features of this rare entity and to alert clinicians about its association with congenital anomalies in the head and neck region. We also present a review of the literature. ß 2012 Elsevier Ireland Ltd. All rights reserved.
Keywords: Rhabdomyomatous mesenchymal hamartoma Striated muscle hamartoma Head and neck
1. Introduction Rhabdomyomatous mesenchymal hamartoma (RMH) is a congenital lesion of the skin, composed of an aberrant proliferation of striated muscle fibers mixed with adipose and connective tissue. Although initially reported in 1986, there are now 48 cases (including our three patients) of RMH described in the literature, mostly involving newborns or young children and occasionally associated with other congenital anomalies or syndromes [1]. This study reports three patients with RMH: the first presenting with a left nostril protuberance and a tooth malformation, the second with a midline neck mass, and the last with a skin tag over the lower neck near the sternal notch. The objectives of this report are, first, to inform otolaryngologists about the clinical and histological features of this rare entity, and second, to alert clinicians to the association of congenital anomalies in the head and neck region. We also present a review of the literature of RMH.
0.6 cm 0.2 cm (Fig. 1). Complete physical examination was otherwise unremarkable except for the fusion of the right lower central and lateral incisors (Fig. 2) with no other associated anomalies. The child was the product of planned cesarean section, with no significant perinatal history. There was a positive family history for an ear pit/tag in her father, sister and maternal uncle. Magnetic resonance of the brain was done to rule out the possibility of midline structural anomalies, which was found to be completely normal (Fig. 3). Subsequently, the patient underwent an excisional biopsy of the nasal mass. Grossly, the specimen consisted of an ellipse of skin with associated soft tissue. Microscopically, the lesion consisted mainly of fascicles of mature striated/skeletal muscle within all levels of the dermis. These fascicles were mixed with adnexal structures, had adipose tissue scattered throughout, and was covered by a thin overlying epithelium (Fig. 4).
3. Case report: patient #2 2. Case report: patient #1 A 2-month-old girl was seen at Montreal Children’s Hospital for an asymptomatic congenital mass in the left nostril measuring
* Corresponding author. E-mail address: [email protected] (L.H.P. Nguyen). 1871-4048/$ – see front matter ß 2012 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.pedex.2012.07.001
A 3-year-old boy was evaluated at the Montreal Children’s Hospital for a midline neck mass extending from submental area to the posterior aspect of the manubrium, and measuring 3.4 cm 1.1 cm. Otherwise, the remaining physical examination, past medical history, and family history were unremarkable. An excisional biopsy revealed a proliferation of skeletal muscle and mature adipose tissue with a fair amount of fibrous tissue
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Fig. 1. 9-month-old girl presenting with a mass on the left side of her columella (arrow).
within the deep and superficial dermis. There was no cystic lesion (Fig. 5).
4. Case report: patient #3 A 2-month-old boy presented to the dermatology clinic with a 0.1 cm skin tag noted at birth over the lower neck near the sternal notch. He was the product of an uneventful term pregnancy by spontaneous vaginal delivery. On physical examination, he was a healthy infant without documented congenital anomalies or family history of RMH. Histologically, the skin tag is composed of bundles of disorganized skeletal muscles in the reticular dermis, intermixed with nerves, eccrine glands, hair follicles, and sebaceous glands (Fig. 6).
5. Discussion Hendrick et al. introduced the entity of striated muscle hamartoma (later renamed ‘‘rhabdomyomatous mesenchymal hamartoma’’ by Mills [2]) to the English literature in 1986 [1]. They were also the first to postulate a possible association between RMH and other congenital anomalies such as amniotic band syndrome. Since their publication, there have been 48 cases of RMH reported in the literature (including our 3 cases, Table 1).
Fig. 2. Associated anomaly consisting of fusion of the right lower central and lateral incisors.
Nonetheless, it remains a rare condition poorly known to clinicians with an unclear etiology. RMH lesions are almost always asymptomatic, firm, scarcely pigmented, stable in size, and they have a tendency to contract spontaneously or in response to autonomous stimuli [3,4]. They typically appear as a single polypoid, pedunculated or papular cutaneous lesion in the midline of the head and neck, but they can also occur as multiple lesions [5,6]. Clinically, these lesions are often mistaken for skin tag, fibroepithelial polyp, lipomatous nevus, and accessory tragus [3,7]. However, the midline location and the microscopic presence of skeletal muscle are helpful features to distinguish these lesions. Other differential diagnoses are primitive tumors such as fetal rhabdomyoma, fibrous hamartoma of infancy, and neuromuscular hamartoma (benign triton tumor) [3]. Treatment is local surgical excision, with the generally accepted notion that RMH has no tendency to recur after removal. Nevertheless, Harris et al. have described a unique case in which a RMH was diagnosed in a 57-year-old woman three years after the resection of the initial lesion on the left lower eyelid [8]. It is however unclear if the initial pathological diagnosis was a confirmed RMH. To our knowledge, there are no other reported cases of recurrences. Histologically, the lesion usually extends to the reticular dermis and contains skin adnexa, particularly hair follicles, sweat glands, and sebaceous glands [9]. The presence of nervous tissue has also been reported [10,11]. There have been descriptions of other
Fig. 3. Brain MRI of the 9-month-girl does not reveal other midline anomalies.
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Fig. 4. Fascicles of mature striated muscle within the dermis and admixed with adnexal structures.
elements such as elastic cartilage, foci of calcification and ossification centers [11]. Immunohistochemistry is positive for actin, desmin, and myoglobin, which highlight the presence of skeletal muscle [7]. Our review of the English literature on RMH has yielded 48 cases in the past 25 years (Table 1). The last literature review was compiled in 2007 by Solis-Coria et al. and included 31 patients [4]. However, with the quick rise in the reported RMH over the past few years and the persisting need to further evaluate the hypothesized association between RMH and congenital anomalies, the authors of this paper recognized the necessity for a recent and updated review of the literature. First, we show that RMH does not seem to have any sex predilection, with 52% of male patients (25/48, Table 1), a figure consistent with previously reported data [4,10]. Mostly found in newborns and children, RMH has only been reported eleven times in the adult population (see Table 1, age 18 years). The lesions range in size from a few millimeters to 3 or 4 cm in size. Whether they presented as nodules, acrochordons, papules or masses, RMH were usually easily detectable. Interestingly, Fannon reported a unique case in which the RMH appeared as a barely visible plaque on the chin of a young teenage girl [12]. Another exception to that rule is the 15-year-old adolescent male described by Bruno et al.,
Fig. 5. Proliferation of skeletal muscle and mature adipose tissue within the deep and superficial dermis.
Fig. 6. Rhabdomyomatous mesenchymal hamartoma removed as a skin tag over the lower neck near the sternal notch (case 3). (A) Disorganized skeletal bundles (arrowheads) intermixed with skin appendages and nerves. (B) Skeletal muscle fibers with cross-striation (400).
who presented with mucous discharge originating from an ostium on the vermillion border of the lower lip, and was found to have a clinically invisible RMH (located in the labial submucosal tissues) connected to an ectopic salivary duct [13]. These two unusual cases highlight the clinical diversity of an entity that is still poorly understood. As investigators have previously noted, RMH was also occasionally associated to other congenital malformations in our literature review. Interestingly, however, it seems that the more cases are reported in the literature, the weaker the association might be between RMH and congenital anomalies. In our study, 20.8% (10/48) of patients with RMH were found to have an associated anomaly. In contrast, literature reviews that included fewer cases done in 2000 (Read et al.), 2002 (Rosenberg et al.) and 2007 (Solis-Coria et al.) reported anomalies associated to RMH in 29.2% (7/24), 25% (6/24) and 25.8% (8/31) of patients, respectively [4,10,14]. This possible downward trend may raise questions about the validity of the association between RMH and congenital anomalies. Nonetheless, until the pathogenesis and etiology of RMH is elucidated, all investigators agree that a cautious approach is needed, and that a complete evaluation of children diagnosed with this entity remains of utmost importance. Indeed, there are two syndromes reported to be associated with RMH. The first, Delleman’s syndrome, or oculocerebrocutaneous syndrome, is characterized by orbital cysts, hydrocephalus, central nervous system cysts, agenesis of the corpus callosum, focal cutaneous hypoplasia and skin appendages like RMH [11]. The other, Goldenhar syndrome, features colobomas, absence of corpus
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Table 1 Reported cases of rhabdomyomatous mesenchymal hamartomas in the literature by increasing age (NB: neonate, m: months, y: years) (See refs. [15–37]). Case #
Age
Sex
Clinical presentation
Associated anomalies
1 2
1
NB NB
M M
Sternal notch, midline, pedunculated papule Left upper lip protuberance
3 4 5
2
NB NB NB
M F M
Chin, midline pedunculated nodule, 0.6 cm Multiple polypoid masses of tongue Bilateral peri-auricular and peri-orbital polyps/nodules
NB NB NB NB 2m 3m 3.5m 4m
F M F M M F F M
Intranasal mass Chin skin tag, 0.6 cm Vaginal polypoid lesion measuring 2.0 cm Periorbital, nasal septum, appearance of skin tags Skin tag over lower neck near sternal notch (0.1 cm), present since birth Pedunculated 1 cm perianal mass, present since birth Anterior neck skin tag, 0.5 cm, present since birth Medial eyebrow projection
4m 6m
M M
Chin pedunculated midline nodule, 0.7 cm Congenital flesh-colored nodule right lower lid
6m 7m 7m 9m 9m
M F F M F
Chin, papillomatous lesion 3.5 cm finger-like outgrowth over right chin since birth Polypoid perianal lesion (after regression of initial hemangioma) Right nostril pedunculated lesion Left nostril mass
11m 14m 18m
F F F
Nostril mass, present since birth Sternal notch papule (0.4 cm), present since birth Subcutaneous tumor of forehead, present since birth
18m 2y 3y 4y 4y 4y 4y 6y 10y 12y 12y 15y 15y 17y 18y 36y 40y 40y 42y 44y 48y 57y 71y 80y n/a
F M M M F M M M F F F M F F F M M F F M M F M M n/a
Sternoclavicular area, skin tag, 1.4 cm 0.8 cm, present since birth Retrobulbar mass, axial proptosis of right eye with loss of vision Midline neck mass Anterior midline neck, nodule, present since birth Chin papule, 0.3 cm, present since birth Chin nodule, 1.2 cm, present since birth Chin nodule, 2.0 cm, present since birth Central face with spontaneous regression Ill-defined 1 cm plaque on chin, with coarse blond hair, 4 years duration Nasal alae papule, 0.4 cm, present since infancy Three yellowish polypoid lesion on lateral tongue Mucous secretions from ostium on vermillion border of lower lip, present since birth Nostril mass, present since birth Depressed lesion, left side of chin Pedunculated mass in medial region of neck 6 mm papule on dorsum of right great toe, 4–5 years duration Single polypoid mass of left palatine tonsil Flesh-colored plaque-like lesion above chin Indurated plaque on chin Nose papule, 0.6 cm, present 10 year Nasal alae papule, uncertain duration Recurrent mass on medial left lower eyelid, 2 years duration Lateral forehead subcutaneous nodule, unknown duration Solitary brownish nodule on left eyelid Nostril lesion
None reported Cleft lip and palate, amniotic band syndrome, syndactyly None reported None reported Bilateral scleracorneas, orbital cysts, bilateral periauricular sinuses, low set ears None reported None reported None reported Delleman’s syndrome None reported None reported Thyroglossal duct sinus Craniofacial clefts, amnion rupture sequence None reported Upper lid coloboma, limbal dermoid, microphtalmia None reported None reported None reported None reported Right lower jaw central and lateral incisura fusion None reported None reported Nasofrontal meningocele and dermoid cyst None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported Ectopic salivary duct None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported Lipoma of corpus callosum
1
5 6,15
69 7 11 8 16 9 17 10 (3rd case) 11 18 12 11 13 10 14 15
19 14
16 20 17 3 18 21 19 22 20 (1st case) 21 22 23
23 24 25
24 26 25 27 26 (2nd case) 27 28 28 29 29 30 30 30 31 31 32 12 33 11 34 32 35 13 36 23 37 33 38 4 39 7 40 5 41 34 42 35 43 11 44 11 45 8 46 10 47 36 48 37
callosum, orbital cysts, porencephalic cysts, skin tags, and other abnormalities [14]. Occasionally, patients with RMH may present with other anomalies in the vicinity of the head and neck region, such as cleft lip and/or palate, bilateral sclerocorneas, and corneal dysplasia. Our first case is unique in that the girl presented with fusion of the right lower central and lateral incisors, an anomaly never previously reported. In brief, the exact cause of these developmental anomalies is still unknown, and so is the etiology of RMH. Although it has been hypothesized that genetic defects or abnormal migration of mesodermal tissues during embryogenesis could play a role in
the pathogenesis of RMH, further studies are required to confirm these hypotheses [4]. 6. Conclusion RMH is a rare and benign congenital disease typically presenting as a single lesion of the midline head and neck region in newborns and children. To date, only 48 have reported in the literature. In 20.8% of all reported cases, RMH was associated with other congenital malformations, including Dellemane syndrome, Goldenhar syndrome and cleft lip and/or palate. Although the
J. Saliba et al. / International Journal of Pediatric Otorhinolaryngology Extra 7 (2012) 149–153
etiology is still to be clarified, a search for accompanying anomalies may therefore be worthwhile in children with RMH. Acknowledgement We would like to thank Margaret Redpath for her help in editing this article. References [1] S.J. Hendrick, R.L. Sanchez, S.J. Blackwell, S.S. Raimer, Striated muscle hamartoma: description of two cases, Pediatric Dermatology 3 (1986) 153–157. [2] A.E. Mills, Rhabdomyomatous mesenchymal hamartoma of skin, American Journal of Dermatopathology 11 (1) (1989) 58–63. [3] A. Biswas, D. Gey van Pittius, Rhabdomyomatous mesenchymal hamartoma with lentiginous melanocytic hyperplasia: an inductive phenomenon or component of the hamartoma? American Journal of Dermatopathology 30 (5) (2008) 488–491. [4] A. Solis-Coria, R. Vargas-Gonza´lez, C. Sotelo-Avila, Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area, Pathology Oncology Research 13 (4) (2007) 375–378. [5] G. Magro, A. Di Benedetto, G. Sanges, F. Scalisi, Alaggio, Rhabdomyomatous mesenchymal hamartoma of oral cavity: an unusual location for such a rare lesion, Virchows Archiv 446 (3) (2005) 346–347. [6] E.E. Sahn, P.D. Garen, G.S. Pai, A.H. Levkoff, R.C. Hagerty, J.C. Maize, Multiple rhabdomyomatous mesenchymal hamartomas of skin, American Journal of Dermatopathology 12 (5) (1990) 485–491. [7] N.K. Brinster, E.R. Farmer, Rhabdomyomatous mesenchymal hamartoma presenting on a digit, Journal of Cutaneous Pathology 36 (1) (2009) 61–63. [8] M.A. Harris, J.J. Dutton, A.D. Proia, Striated muscle hamartoma of the eyelid in an adult woman, Ophthalmic Plastic and Reconstructive Surgery 24 (6) (2008) 492–494. [9] P.E. Farris, S. Manning, Vuitch Rhabdomyomatous mesenchymal hamartoma, American Journal of Dermatopathology 16 (1) (1994) 73–75. [10] A.S. Rosenberg, J. Kirk, M.B. Morgan, Rhabdomyomatous mesenchymal hamartoma: an unusual dermal entity with a report of two cases and a review of the literature, Journal of Cutaneous Pathology 29 (4) (2002) 238–243. [11] R.L. Sanchez, S.S. Ramier, Clinical and histologic features of striated muscle hamartoma: possible relation to Delleman syndrome (case report), Journal of Cutaneous Pathology 21 (1994) 40–46. [12] E.M. Fannon, H. Pride, Asymptomatic plaque on the chin of a 10 year old girl, Archives of Dermatology 136 (2000) 1263–1268. [13] I. Bruno, G. Artico, F. Martins, D. Pinto, A. Witzel, C. Lemos, et al., Ectopic salivary duct on the lip vermillion border having arisen congenitally from a rhabdomyomatous hamartoma in the lower labial submucosa, Journal of Oral and Maxillofacial Surgery 69 (5) (2011) 1269–1271. [14] R.W. Read, M. Burnstine, J.M. Rowland, E. Zamir, N.A. Rao, Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review, Ophthalmology 108 (4) (2001) 798–804. [15] A.H. Levkoff, J.C. Maize, Picture of the month, AJDC 143 (1989) 963–964. [16] S.H. Han, H.J. Song, W.K. Hong, H.S. Lee, G.S. Choi, J.H. Shin, Rhabdomyomatous mesenchymal hamartoma of the vagina, Pediatric Dermatology 26 (6) (2009) 753–755. [17] J.W. Ferguson, H.T. Hutchison, B.M. Rouse, Ocular, cerebral and cutaneous malformations: confirmation of an association, Clinical Genetics 25 (1984) 464–469.
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[18] J.E. Schrecengost, S. Tabarra, J. Patterson, M.R. Wich, Cutaneous mesenchymal hamartoma with mixed myogenous differentiation, Journal of Cutaneous Pathology 33 (2006) 327. [19] G.W. Elgart, J.W. Patterson, Congenital midline hamartoma: case report with histochemical and immunohistochemical findings, Pediatric Dermatology 7 (3) (1990) 199–201. [20] T. Ortak, H. Orbay, E. Unlu¨, C. Uysal, M. Uralog˘lu, O.M. Senso¨z, Rhabdomyomatous mesenchymal hamartoma, Journal of Craniofacial Surgery 16 (6) (2005) 1135– 1137. [21] Y. Scrivener, P. Petiau, C. Rodier-Bruant, B. Cribier, E. Heid, E. Grosshans, Perianal striated muscle hamartoma associated with hemangioma [case report], Pediatric Dermatology 15 (1998) 274–276. [22] R. Grilli, P. Escalonilla, M.L. Soriano, C. Farina, G. Renedo, L. Martin, et al., The socalled striated muscle hamartoma is a hamartoma of cutaneous adnexa and mesenchyme, but not of striated muscle, Acta Dermato-Venereologica 78 (1998) 390. [23] H. Nakanishi, I. Hashimoto, H. Takiwaki, Y. Urano, S. Arase, Striated muscle hamartoma of the nostril, Journal of Dermatology 22 (1995) 504–507. [24] S.H. Chen, M.S. Driscoll, R.L. Sanchez, S.S. Raimer, A flesh-colored papule on the neck of a child, Pediatric Dermatology 16 (1999) 65–67. [25] J. Takeyama, T. Hayashi, T. Sanada, Y. Shimanuki, M. Saito, R. Shirane, Rhabdomyomatous mesenchymal hamartoma associated with nasofrontal meningocele and dermoid cyst, Journal of Cutaneous Pathology 32 (4) (2005) 310–313. [26] J.A. Dı´az-Pe´rez, C.A. Garcı´a-Ramı´rez, J.A. Garcı´a-Vera, M.A. Melo-Uribe, C.J. Uribe, Rhabdomyomatous mesenchymal hamartoma, Actas Dermo-Sifiliograficas 99 (6) (2008) 474–476. [27] I. Mavrikakis, V.A. White, M. Heran, J. Rootman, Orbital mesenchymal hamartoma with rhabdomyomatous features, British Journal of Ophthalmology 91 (5) (2007) 692–693. [28] M. Katsumata, C.H. Keong, T. Satoh, Rhabdomyomatous mesenchymal hamartoma of skin, Journal of Dermatology 17 (6) (1990) 384–387. [29] M. Hayes, N. van der Westhuizen, Congenital rhabdomyomatous mesenchymal hamartoma, American Journal of Dermatopathology 14 (1) (1992) 64–65. [30] R. Ashfaq, C.F. Timmons, Rhabdomyomatous mesenchymal hamartoma of skin, Pediatric Pathology 12 (5) (1992) 731–735. [31] N.P. Williams, A.C. Shue, Rhabdomyomatous mesenchymal hamartoma: clinical overview and report of a case with spontaneous regression, West Indian Medical Journal 58 (6) (2009) 607–609. [32] P. De la Sotta, C. Salomone, S. Gonza´lez, Rhabdomyomatous (mesenchymal) hamartoma of the tongue: report of a case, Journal of Oral Pathology and Medicine 36 (1) (2007 Jan) 58–59. [33] E.A. Ball, E.J. McGrath, H. Chong, A.L. Moss, Rhabdomyomatous mesenchymal hamartoma resembling scleroderma ‘en coup de sabre’: a case report and literature review, British Journal of Dermatology 162 (1) (2010) 222–224. [34] C.P. Chang, G.S. Chen, Rhabdomyomatous mesenchymal hamartoma: a plaquetype variant in an adult, Kaohsiung Journal of Medical Sciences 21 (4) (2005) 185– 188. [35] H.S. Kim, Y.J. Kim, J.W. Kim, D.S. Yu, Rhabdomyomatous mesenchymal hamartoma, Journal of the European Academy of Dermatology and Venereology 21 (4) (2007) 564–565. [36] O.L. Bohn, S. Sanchez-Sosa, Rhabdomyomatous mesenchymal hamartoma mimicking basal cell carcinoma, American Journal of Dermatopathology 31 (3) (2009) 309–310. [37] T. Miura, K. Inoue, A case of a congenital skin mass in the nostril with a lipoma of the corpus callosum, Japanese Journal of Plastic and Reconstructive Surgery 33 (1990) 365–369.
Contents lists available at SciVerse ScienceDirect
International Journal of Pediatric Otorhinolaryngology Extra journal homepage: www.elsevier.com/locate/ijporl
Case report
Rhabdomyomatous mesenchymal hamartoma in the head and neck region: Case reports and literature review of a rare occurrence J. Saliba b, F. Razaghi a, V.H. Nguyen a, J.J. Manoukian b, L.H.P. Nguyen b,* a
Department of Pathology, Montreal Children’s Hospital, McGill University Health Center, 2300 Tupper, Suite D-469, Montreal, Quebec H3H 1P3, Canada Department of Otolaryngology – Head and Neck Surgery, Montreal Children’s Hospital, McGill University Health Center, 2300 Tupper Street, Suite B-240, Montreal, Quebec H3H 1P3, Canada
b
A R T I C L E I N F O
S U M M A R Y
Article history: Received 23 April 2012 Accepted 2 July 2012 Available online 25 July 2012
Rhabdomyomatous mesenchymal hamartoma (RMH) is an uncommon congenital lesion typically involving the midline structures of the head and neck. Although benign, it is sometimes associated with other congenital malformations. The present study describes three cases of RMH: a 2-month-old girl with a left nostril mass, a 3-year-old boy with a midline neck mass and a 2-month-old boy with a lesion near the sternal notch. The objectives of this report are to inform otolaryngologists about the clinical features of this rare entity and to alert clinicians about its association with congenital anomalies in the head and neck region. We also present a review of the literature. ß 2012 Elsevier Ireland Ltd. All rights reserved.
Keywords: Rhabdomyomatous mesenchymal hamartoma Striated muscle hamartoma Head and neck
1. Introduction Rhabdomyomatous mesenchymal hamartoma (RMH) is a congenital lesion of the skin, composed of an aberrant proliferation of striated muscle fibers mixed with adipose and connective tissue. Although initially reported in 1986, there are now 48 cases (including our three patients) of RMH described in the literature, mostly involving newborns or young children and occasionally associated with other congenital anomalies or syndromes [1]. This study reports three patients with RMH: the first presenting with a left nostril protuberance and a tooth malformation, the second with a midline neck mass, and the last with a skin tag over the lower neck near the sternal notch. The objectives of this report are, first, to inform otolaryngologists about the clinical and histological features of this rare entity, and second, to alert clinicians to the association of congenital anomalies in the head and neck region. We also present a review of the literature of RMH.
0.6 cm 0.2 cm (Fig. 1). Complete physical examination was otherwise unremarkable except for the fusion of the right lower central and lateral incisors (Fig. 2) with no other associated anomalies. The child was the product of planned cesarean section, with no significant perinatal history. There was a positive family history for an ear pit/tag in her father, sister and maternal uncle. Magnetic resonance of the brain was done to rule out the possibility of midline structural anomalies, which was found to be completely normal (Fig. 3). Subsequently, the patient underwent an excisional biopsy of the nasal mass. Grossly, the specimen consisted of an ellipse of skin with associated soft tissue. Microscopically, the lesion consisted mainly of fascicles of mature striated/skeletal muscle within all levels of the dermis. These fascicles were mixed with adnexal structures, had adipose tissue scattered throughout, and was covered by a thin overlying epithelium (Fig. 4).
3. Case report: patient #2 2. Case report: patient #1 A 2-month-old girl was seen at Montreal Children’s Hospital for an asymptomatic congenital mass in the left nostril measuring
* Corresponding author. E-mail address: [email protected] (L.H.P. Nguyen). 1871-4048/$ – see front matter ß 2012 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.pedex.2012.07.001
A 3-year-old boy was evaluated at the Montreal Children’s Hospital for a midline neck mass extending from submental area to the posterior aspect of the manubrium, and measuring 3.4 cm 1.1 cm. Otherwise, the remaining physical examination, past medical history, and family history were unremarkable. An excisional biopsy revealed a proliferation of skeletal muscle and mature adipose tissue with a fair amount of fibrous tissue
150
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Fig. 1. 9-month-old girl presenting with a mass on the left side of her columella (arrow).
within the deep and superficial dermis. There was no cystic lesion (Fig. 5).
4. Case report: patient #3 A 2-month-old boy presented to the dermatology clinic with a 0.1 cm skin tag noted at birth over the lower neck near the sternal notch. He was the product of an uneventful term pregnancy by spontaneous vaginal delivery. On physical examination, he was a healthy infant without documented congenital anomalies or family history of RMH. Histologically, the skin tag is composed of bundles of disorganized skeletal muscles in the reticular dermis, intermixed with nerves, eccrine glands, hair follicles, and sebaceous glands (Fig. 6).
5. Discussion Hendrick et al. introduced the entity of striated muscle hamartoma (later renamed ‘‘rhabdomyomatous mesenchymal hamartoma’’ by Mills [2]) to the English literature in 1986 [1]. They were also the first to postulate a possible association between RMH and other congenital anomalies such as amniotic band syndrome. Since their publication, there have been 48 cases of RMH reported in the literature (including our 3 cases, Table 1).
Fig. 2. Associated anomaly consisting of fusion of the right lower central and lateral incisors.
Nonetheless, it remains a rare condition poorly known to clinicians with an unclear etiology. RMH lesions are almost always asymptomatic, firm, scarcely pigmented, stable in size, and they have a tendency to contract spontaneously or in response to autonomous stimuli [3,4]. They typically appear as a single polypoid, pedunculated or papular cutaneous lesion in the midline of the head and neck, but they can also occur as multiple lesions [5,6]. Clinically, these lesions are often mistaken for skin tag, fibroepithelial polyp, lipomatous nevus, and accessory tragus [3,7]. However, the midline location and the microscopic presence of skeletal muscle are helpful features to distinguish these lesions. Other differential diagnoses are primitive tumors such as fetal rhabdomyoma, fibrous hamartoma of infancy, and neuromuscular hamartoma (benign triton tumor) [3]. Treatment is local surgical excision, with the generally accepted notion that RMH has no tendency to recur after removal. Nevertheless, Harris et al. have described a unique case in which a RMH was diagnosed in a 57-year-old woman three years after the resection of the initial lesion on the left lower eyelid [8]. It is however unclear if the initial pathological diagnosis was a confirmed RMH. To our knowledge, there are no other reported cases of recurrences. Histologically, the lesion usually extends to the reticular dermis and contains skin adnexa, particularly hair follicles, sweat glands, and sebaceous glands [9]. The presence of nervous tissue has also been reported [10,11]. There have been descriptions of other
Fig. 3. Brain MRI of the 9-month-girl does not reveal other midline anomalies.
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Fig. 4. Fascicles of mature striated muscle within the dermis and admixed with adnexal structures.
elements such as elastic cartilage, foci of calcification and ossification centers [11]. Immunohistochemistry is positive for actin, desmin, and myoglobin, which highlight the presence of skeletal muscle [7]. Our review of the English literature on RMH has yielded 48 cases in the past 25 years (Table 1). The last literature review was compiled in 2007 by Solis-Coria et al. and included 31 patients [4]. However, with the quick rise in the reported RMH over the past few years and the persisting need to further evaluate the hypothesized association between RMH and congenital anomalies, the authors of this paper recognized the necessity for a recent and updated review of the literature. First, we show that RMH does not seem to have any sex predilection, with 52% of male patients (25/48, Table 1), a figure consistent with previously reported data [4,10]. Mostly found in newborns and children, RMH has only been reported eleven times in the adult population (see Table 1, age 18 years). The lesions range in size from a few millimeters to 3 or 4 cm in size. Whether they presented as nodules, acrochordons, papules or masses, RMH were usually easily detectable. Interestingly, Fannon reported a unique case in which the RMH appeared as a barely visible plaque on the chin of a young teenage girl [12]. Another exception to that rule is the 15-year-old adolescent male described by Bruno et al.,
Fig. 5. Proliferation of skeletal muscle and mature adipose tissue within the deep and superficial dermis.
Fig. 6. Rhabdomyomatous mesenchymal hamartoma removed as a skin tag over the lower neck near the sternal notch (case 3). (A) Disorganized skeletal bundles (arrowheads) intermixed with skin appendages and nerves. (B) Skeletal muscle fibers with cross-striation (400).
who presented with mucous discharge originating from an ostium on the vermillion border of the lower lip, and was found to have a clinically invisible RMH (located in the labial submucosal tissues) connected to an ectopic salivary duct [13]. These two unusual cases highlight the clinical diversity of an entity that is still poorly understood. As investigators have previously noted, RMH was also occasionally associated to other congenital malformations in our literature review. Interestingly, however, it seems that the more cases are reported in the literature, the weaker the association might be between RMH and congenital anomalies. In our study, 20.8% (10/48) of patients with RMH were found to have an associated anomaly. In contrast, literature reviews that included fewer cases done in 2000 (Read et al.), 2002 (Rosenberg et al.) and 2007 (Solis-Coria et al.) reported anomalies associated to RMH in 29.2% (7/24), 25% (6/24) and 25.8% (8/31) of patients, respectively [4,10,14]. This possible downward trend may raise questions about the validity of the association between RMH and congenital anomalies. Nonetheless, until the pathogenesis and etiology of RMH is elucidated, all investigators agree that a cautious approach is needed, and that a complete evaluation of children diagnosed with this entity remains of utmost importance. Indeed, there are two syndromes reported to be associated with RMH. The first, Delleman’s syndrome, or oculocerebrocutaneous syndrome, is characterized by orbital cysts, hydrocephalus, central nervous system cysts, agenesis of the corpus callosum, focal cutaneous hypoplasia and skin appendages like RMH [11]. The other, Goldenhar syndrome, features colobomas, absence of corpus
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152
Table 1 Reported cases of rhabdomyomatous mesenchymal hamartomas in the literature by increasing age (NB: neonate, m: months, y: years) (See refs. [15–37]). Case #
Age
Sex
Clinical presentation
Associated anomalies
1 2
1
NB NB
M M
Sternal notch, midline, pedunculated papule Left upper lip protuberance
3 4 5
2
NB NB NB
M F M
Chin, midline pedunculated nodule, 0.6 cm Multiple polypoid masses of tongue Bilateral peri-auricular and peri-orbital polyps/nodules
NB NB NB NB 2m 3m 3.5m 4m
F M F M M F F M
Intranasal mass Chin skin tag, 0.6 cm Vaginal polypoid lesion measuring 2.0 cm Periorbital, nasal septum, appearance of skin tags Skin tag over lower neck near sternal notch (0.1 cm), present since birth Pedunculated 1 cm perianal mass, present since birth Anterior neck skin tag, 0.5 cm, present since birth Medial eyebrow projection
4m 6m
M M
Chin pedunculated midline nodule, 0.7 cm Congenital flesh-colored nodule right lower lid
6m 7m 7m 9m 9m
M F F M F
Chin, papillomatous lesion 3.5 cm finger-like outgrowth over right chin since birth Polypoid perianal lesion (after regression of initial hemangioma) Right nostril pedunculated lesion Left nostril mass
11m 14m 18m
F F F
Nostril mass, present since birth Sternal notch papule (0.4 cm), present since birth Subcutaneous tumor of forehead, present since birth
18m 2y 3y 4y 4y 4y 4y 6y 10y 12y 12y 15y 15y 17y 18y 36y 40y 40y 42y 44y 48y 57y 71y 80y n/a
F M M M F M M M F F F M F F F M M F F M M F M M n/a
Sternoclavicular area, skin tag, 1.4 cm 0.8 cm, present since birth Retrobulbar mass, axial proptosis of right eye with loss of vision Midline neck mass Anterior midline neck, nodule, present since birth Chin papule, 0.3 cm, present since birth Chin nodule, 1.2 cm, present since birth Chin nodule, 2.0 cm, present since birth Central face with spontaneous regression Ill-defined 1 cm plaque on chin, with coarse blond hair, 4 years duration Nasal alae papule, 0.4 cm, present since infancy Three yellowish polypoid lesion on lateral tongue Mucous secretions from ostium on vermillion border of lower lip, present since birth Nostril mass, present since birth Depressed lesion, left side of chin Pedunculated mass in medial region of neck 6 mm papule on dorsum of right great toe, 4–5 years duration Single polypoid mass of left palatine tonsil Flesh-colored plaque-like lesion above chin Indurated plaque on chin Nose papule, 0.6 cm, present 10 year Nasal alae papule, uncertain duration Recurrent mass on medial left lower eyelid, 2 years duration Lateral forehead subcutaneous nodule, unknown duration Solitary brownish nodule on left eyelid Nostril lesion
None reported Cleft lip and palate, amniotic band syndrome, syndactyly None reported None reported Bilateral scleracorneas, orbital cysts, bilateral periauricular sinuses, low set ears None reported None reported None reported Delleman’s syndrome None reported None reported Thyroglossal duct sinus Craniofacial clefts, amnion rupture sequence None reported Upper lid coloboma, limbal dermoid, microphtalmia None reported None reported None reported None reported Right lower jaw central and lateral incisura fusion None reported None reported Nasofrontal meningocele and dermoid cyst None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported Ectopic salivary duct None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported None reported Lipoma of corpus callosum
1
5 6,15
69 7 11 8 16 9 17 10 (3rd case) 11 18 12 11 13 10 14 15
19 14
16 20 17 3 18 21 19 22 20 (1st case) 21 22 23
23 24 25
24 26 25 27 26 (2nd case) 27 28 28 29 29 30 30 30 31 31 32 12 33 11 34 32 35 13 36 23 37 33 38 4 39 7 40 5 41 34 42 35 43 11 44 11 45 8 46 10 47 36 48 37
callosum, orbital cysts, porencephalic cysts, skin tags, and other abnormalities [14]. Occasionally, patients with RMH may present with other anomalies in the vicinity of the head and neck region, such as cleft lip and/or palate, bilateral sclerocorneas, and corneal dysplasia. Our first case is unique in that the girl presented with fusion of the right lower central and lateral incisors, an anomaly never previously reported. In brief, the exact cause of these developmental anomalies is still unknown, and so is the etiology of RMH. Although it has been hypothesized that genetic defects or abnormal migration of mesodermal tissues during embryogenesis could play a role in
the pathogenesis of RMH, further studies are required to confirm these hypotheses [4]. 6. Conclusion RMH is a rare and benign congenital disease typically presenting as a single lesion of the midline head and neck region in newborns and children. To date, only 48 have reported in the literature. In 20.8% of all reported cases, RMH was associated with other congenital malformations, including Dellemane syndrome, Goldenhar syndrome and cleft lip and/or palate. Although the
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