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Oral leiomyomatous hamartoma associated with upper lip midline malformation: Case report and review of the literature
International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
Contents lists available at SciVerse ScienceDirect
International Journal of Pediatric Otorhinolaryngology Extra journal homepage: www.elsevier.com/locate/ijporl
Case Report
Oral leiomyomatous hamartoma associated with upper lip midline malformation: Case report and review of the literature ˜ ach b, Saulo Gabriel Moreira Falci a,*, Ana Terezinha Marques Mesquita a, Ma´rio Jose´ Roman c a Oslei Paes de Almeida , Ca´ssio Roberto Rocha dos Santos a b c
Department of Oral Diagnosis and Oral Surgery, Diamantina Dental School, Federal University of Vales do Jequitinhonha e Mucuri (UFVJM), Diamantina, Minas Gerais, Brazil Department of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, Sa˜o Paulo, Brazil
A R T I C L E I N F O
A B S T R A C T
Article history: Received 8 November 2012 Received in revised form 10 December 2012 Accepted 12 December 2012 Available online 10 January 2013
A 3-month-old male patient presented an upper lip malformation associated to a polypoid nodule in the maxillary anterior alveolar ridge. Microscopically, the nodule was predominantly composed by a nonencapsulated smooth muscle proliferation intermingled by numerous blood vessels of varied sizes and scattered small nerve fibers. The smooth muscle tissue was positive for desmin and smooth muscle actin, while endothelial cells were highlighted by CD34 staining. The final diagnosis was of an oral leiomyomatous hamartoma associated with upper lip malformation. After surgical treatment, no recurrence has been observed after 2 years of follow-up. ß 2012 Elsevier Ireland Ltd. All rights reserved.
Keywords: Leiomyomatous hamartoma Malformation Lip diseases
1. Introduction Hamartoma is a benign localized malformation formed by proliferation of tissues normally found at the site of the lesion [1]. It is formed during the development of the affected area, as disorganized and ill-defined normal tissues commonly found in the liver, spleen, kidneys, lungs, and pancreas. Most cases are successfully treated by surgical excision, and recurrences are not expected [1–3]. In the oral cavity vascular malformations are the most common hamartomas, but other tissues can predominate as: smooth and skeletal muscles, nerves, fat, salivary and sebaceous glands and lymphoid tissue [2,4–7]. Leiomyomatous hamartoma (LH) of the oral cavity is composed predominantly by smooth muscle, likely derived from blood vessels walls and usually presenting as a pedunculated or sessile nodule in the tongue or gingival/alveolar ridge of patients in their first decade of life [2–8]. To the best of our knowledge, 32 cases of oral LH have been published in the English-language literature [2,8–33], so far, nine of those affected the anterior maxilla and none of them exhibited
* Corresponding author at: Universidade Federal dos Vales do Jequitinhonha e Mucuri (UFVJM), Rua da Glo´ria 187, Pre´dio 1, Clı´nica de Cirurgia Bucal, Campus I, CEP: 39100/000 Diamantina, Minas Gerais, Brazil. Tel.: +55 38 3532 6000; fax: +55 38 8817 1454. E-mail address: [email protected] (S.G.M. Falci). 1871-4048/$ – see front matter ß 2012 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.pedex.2012.12.001
lip malformation (Table 1). The aim of the present study is to report an unusual clinical presentation of oral LH associated with upper lip midline malformation in an otherwise healthy child. 2. Case report A 3-month-old male patient was referred to the Oral Surgery Service of the author’s university, for management of an oral exophytic lesion in the maxillary anterior alveolar ridge. According to his mother, the lesion was noted at birth, it is asymptomatic despite of some breast-feeding difficulties. Period of pregnancy was uneventful, and the baby delivered normally at full-term. There was no family history of congenital abnormalities. Extra-oral examination revealed an upper lip midline malformation showing a linear depression on the philtrum (Fig. 1A). Intra-oral examination showed a pedunculated multilobated nodule in the anterior maxillary alveolar ridge connected to the malformed upper labial frenulum, which was attached to the anterior region of the maxilla. The lesion was slightly reddish, firm on palpation, covered by a smooth surface and measuring approximately 2 cm (Fig. 1B). No signs of true lip or palatal cleft were observed. The differential diagnosis included a reactive lesion, congenital granular cell epulis, teratoma, and hamartoma. Under general anesthesia, the patient was submitted to a surgical excision of the lesion and an upper lip reconstruction. Microscopically, the lesion was covered by normal stratified squamous epithelium and the submucosa was mainly composed of a circumscribed non-encapsulated proliferation of
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S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
Table 1 Cases reported of smooth muscle predominant hamartomas in English-language literature. First author
Year
Cases
Age
Gnd
Location
Stamm [9] Perri [10] Takahashi [11] Hinshaw [12] Ishii [13] Demuth [14] Mushimoto [15] Kajiyama [16] Kanekawa [17] Becker [18] Seki [19] Ng [20] Semba [21] Misawa [22] Goldsmith [23] Napier [24] de la Rosa-Garcia [25] Takeda [26] Kobayashi [2] Correˆa [27] Kujan [28] Iida [29]
1945 1956 1962 1963 1968 1981 1982 1983 1989 1984 1991 1992 1993 1994 1995 1996 1999 2000 2001 2001 2007 2007
1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1
Birth 34 years 2 months 4 years 4 months 1 year 11 months 4 years 3 years Birth 2 years 3 months 24 years 1 year 1 year 5 years 6 years 10 months 3 months 6 years 11 months 2 years
F F F F F M F F M M F F M F M F M M M F F M
Zaitoun [30]
2007
1
8 years
F
Posterior tongue Posterior tongue Median maxilla Posterior tongue Posterior/anterior tongue Posterior tongue Median maxilla Median maxilla Median maxilla Posterior tongue Median maxilla Incisive papilla Anterior maxilla Median maxilla Posterior tongue Hard palate Anterior tongue Anterior maxilla Posterior tongue Median maxilla Anterior maxilla Posterior/anterior tongue Incisive papilla Incisive papilla
Kreiger [31]
2007 2007 2007 2007 2007
1 1 1 1 1
8 4 5 1 5
M F F M M
Anterior tongue Anterior tongue Middle tongue Anterior tongue Middle tongue
de Faria [32]
2008
1
61 years
F
Posterior tongue
Nava-Villalba [33]
2008
1 1
19 years 5 months
F M
Incisive papilla Posterior tongue
Zhang [8] Present case
2011
1 1
2 years Newborn
F M
Median maxilla Labial frenulum
days months months year years
Gnd, gender; M, male; F, female.
eosinophilic smooth muscle fibers, which were intermingled to numerous blood vessels of varied sizes and scattered small nerve fibers (Fig. 2A and B). By immunohistochemistry, the muscle bundles were strongly positive for desmin (D33, 1:1000, Dako, Denmark; Fig. 2C) and smooth muscle actin (1A4, 1:400, Dako, Denmark; Fig. 2D). Blood vessels of varied sizes and some stromal fibroblasts-like cells were highlighted by CD34 staining (QBEnd 10, 1:200, Dako, Denmark; Fig. 2E), and only small nerve fibers within the lesion were stained by S100 protein (Polyclonal, 1:10,000,
Dako, Denmark; Fig. 2F). The final diagnosis was of an oral leiomyomatous hamartoma associated with upper lip malformation of the midline. The patient was surgically treated, with no recurrence after 2 years of follow-up (Fig. 3). 3. Discussion The first case of leiomyomatous hamartoma (LH) of the oral cavity reported in the literature was a dorsal tongue lesion in a
Fig. 1. Clinical features of oral leiomyomatous hamartoma associated with an upper lip midline malformation. (A) Note the incipient midline cleft of the upper lip with focal absence of the vermilion border. (B) Intraoral examination showed a pedunculated and multilobulated reddish nodule covered by smooth surface and located in the anterior maxillary alveolar ridge. Note the wrong insertion of the labial frenulum on the midline alveolar ridge closed associated to the multilobulated nodule.
S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
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Fig. 2. Microscopical features of oral leiomyomatous hamartoma. A non-encapsulated proliferation of eosinophilic bundles of smooth muscle intermingled with blood vessels of varied sizes (H&E, A, 25 and B, 100). The smooth muscle tissue was, as expected, immunopositive for desmin (Immunoperoxidase, C, 25) and smooth muscle actin (D, 100). Stromal spindle cells were positive for CD34 (E, 100) and negative for S100 protein (F, 400).
newborn girl [9]. Since then, approximately 32 cases have been reported in the literature (Table 1). Usually, LH of the oral cavity present as a sessile or pedunculated normal-colored small nodule covered by smooth surface and preferably localized in the tongue (mainly posterior dorsum), and anterior maxillary [2,8]. The age of the patients at the time of diagnosis varied from birth to 61 years, with about (90%) being diagnosed in their first decade of life with a median age of 5 years. As the present case, most of the lesions are congenital (Table 1). A single case presented multiple lesions of oral LH [29]. This is the first case of the literature presenting an unusual association between an oral LH and a soft tissue midline malformation of the upper lip in an otherwise healthy patient. The base of the tongue (foramen cecum region) and the upper midline gingiva/alveolar ridge are considered fusion regions of different tissues during embryologic development, what could explain the predilection of oral hamartomas for these regions [2] as seen in the present case. Although LH is not usually associated with malformed oral structures, different types of oral hamartomas can be associated with midline craniofacial clefts [34] and orofacial digital syndromes-related tongue clefts [35]. The present case of LH showing midline lip malformation, seems probably is part of the clinical spectrum of non-syndromic tissues malformation.
The complete development of the midface is achieved by the fusion of three different bilateral embiologic structures: medial nasal, lateral nasal and maxillary prominences [36]. Medial nasal prominence is responsible for the origin of the dorsal ridge of the nose, the columella of the nose and the lip philtrum. The ala of the nose is created by the lateral nasal prominence while the cheek and lateral part of the upper lip is formed from the maxillary prominence. The upper lip vermilion likely develops from the maxillary prominence [36]. The clinical appearance of the present case might be attributed to an incomplete fusion of the medial nasal and maxillary prominences leading to an upper lip midline incipient cleft, which was directly inserted in the oral LH of the anterior maxillary alveolar ridge. Microscopically, oral LH should be differentiated from the congenital type of oral leiomyoma [2]. In the present case, the illdefined and disorganized smooth muscle bundles were positive for desmin and smooth muscle actin as expected, intermingled by small nerves and blood vessels. Most leiomyomas of the mouth originate from blood vessels walls, showing areas of solid growth. Oral LH usually presents slow growth potential, but sometimes it becomes obvious after abrupt enlargement in a patient with apparent no congenital lesion [2]. The surgical excision of oral LH is not strictly necessary, but it is the treatment of choice, especially
S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
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Fig. 3. (A) Immediate post-surgical clinical aspect of the patient. (B) Complete healing of the midline upper lip vermilion border, 2 years after the surgical procedure. (C) Intraoral examination revealed normal teeth eruption and no signs of recurrence of the lesion during the follow-up. (D) Radiographic features exhibiting normal development of the alveolar bone and teeth of the anterior maxillary region.
for cases the baby presents suckling difficulties. The prognosis is good and recurrence is no expected [2]. The patient of the present case was treated by surgical removal of the lesion and reconstruction of the midline upper lip, with no evidences of recurrence after 2 years of follow-up. In summary, we present an unusual association between a congenital oral LH and upper lip midline malformation in a 3month-old male. This case illustrates that oral pathologists and surgeons should be aware for the diagnosis of an oral hamartoma when evaluating patients with midline ill-formed structures of the oral and maxillofacial region. Conflict of interest statement There are no conflicts of interest in this paper. References [1] D.G. Gardner, The concept of hamartomas: its relevance to the pathogenesis of odontogenic lesions, Oral Surgery, Oral Medicine, Oral Pathology 45 (1978) 884–886. [2] A. Kobayashi, T. Amagasa, N. Okada, Leiomyomatous hamartoma of the tongue: case report, Journal of Oral and Maxillofacial Surgery 59 (2001) 337–340. [3] M. Agostini, J.E. Leo´n, M.G. Kellermann, R. Valiati, E. Graner, O.P. de Almeida, Myxoid calcified hamartoma and natal teeth: a case report, International Journal of Pediatric Otorhinolaryngology 72 (2008) 1879–1883. [4] F. Ide, K. Obara, K. Mishima, I. Saito, Ganglioneuromatous hamartoma of the tongue, Journal of Clinical Pathology 59 (2006) 887. [5] 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 (2007) 58–59. [6] C.B. Fowler, N.J. D’Silva, Clinical–pathological conference: case 5, Head and Neck Pathology 4 (2010) 234–237.
[7] I. Allon, D.M. Allon, A. Hirshberg, B. Shlomi, B. Lifschitz-Mercer, I. Kaplan, Oral neurovascular hamartoma: a lesion searching for a name, Journal of Oral Pathology and Medicine 41 (2012) 348–353. [8] M. Zhang, K. Matsuo, Y. Yamashita, T. Takahashi, Leiomyomatous hamartoma of the midline maxillary gingival presenting as a congenital epulis: a case report with an immunohistochemical study, International Journal of Oral and Maxillofacial Surgery 40 (2011) 1322–1326. [9] C. Stamm, R. Tauber, Hamartoma of the tongue, Laryngoscope 55 (1945) 140. [10] F.A. Perri, Myoepithelial hamartoma of the tongue, AMA Archives of Otolaryngology 64 (1956) 289–290. [11] S.J.R. Takahashi, Y.H. Koukita, J.R. Naruke, J.I. Watanabe, A case of so-called congenital epulis, Japan Tokyo Dental College Society 62 (1962) 55–59. [12] C.T. Hinshaw Jr., Unusual lesions of the tongue. Hamartoma, Journal of the Kansas Medical Society 64 (1963) 154–157. [13] T. Ishii, S. Takemori, J.I. Suzuki, Hamartoma of the tongue. Report of a case, Archives of Otolaryngology 88 (1968) 171–173. [14] R.J. Demuth, D.F. Johns, Recurrent aspiration pneumonitis in a cleft palate child with hamartoma of the tongue, Cleft Palate Journal 18 (1981) 299–303. [15] K.A. Mushimoto, K.J. Kakudo, S. Ueno, H. Uenekau, R.Y. Shirasus, J. Takasu, Leiomyomatous hamartoma of the gingival: report of a case, Japanese Journal of Oral and Maxillofacial Surgery 28 (1982) 493–495. [16] M. Kajiyama, E. Lino, E. Kurokawa, H. Fukuyama, M.Y. Ueno, Leiomyomatous hamartoma in the region of upper medial alveolar gingival: report of a case, Japanese Journal of Oral and Maxillofacial Surgery 29 (1990) 1520–1524. [17] A.H. Kanekawa, A case of hamartoma occurring in tongue and upper gingival, Japanese Journal of Oral and Maxillofacial Surgery 36 (1982) 317–320. [18] G.D. Becker, R. Ridolfi, C. Ingber, Lingual hamartoma in a newborn, Otolaryngology - Head and Neck Surgery 92 (1984) 357–359. [19] R.K. Seki, H.M. Meno, Mek. Tomizawa, T. Noda, M. Suzuki, Congenital epulis, socalled leiomyomatous hamartoma: a case report, Japanese Journal of Pediatric Dentistry 29 (1991) 845–861. [20] K.H. Ng, C.H. Siar, H. Abdul Latif, Leiomyoma of the incisive papilla region: case report, Annals of Dentistry 51 (1992) 29–31. [21] I. Semba, M. Kitano, T. Mimura, Gingival leiomyomatous hamartoma: immunohistochemical and ultrastructural observations, Journal of Oral Pathology and Medicine 22 (1993) 468–470. [22] S.H. Misawa, M.K. Tomozawa, T. Noda, M. Suzuki, Clinico histopathological studies of 11 cases of so-called epulis in deciduous dentition, Japanese Journal of Pediatric Dentistry 32 (1994) 170–177.
S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21 [23] P. Goldsmith, J.V. Soames, D. Meikle, Leiomyomatous hamartoma of the posterior tongue: a case report, Journal of Laryngology and Otology 109 (1995) 1190–1191. [24] S.S. Napier, J.C. Devine, J.S. Rennie, P.J. Lamey, Unusual leiomyomatous hamartoma of the hard palate: a case report, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics 82 (1996) 305–307. [25] E. de la Rosa-Garcı´a, A. Mosqueda-Taylor, Leiomyomatous hamartoma of the anterior tongue: report of a case and review of the literature, International Journal of Paediatric Dentistry 9 (1999) 129–132. [26] Y. Takeda, M. Satoh, S. Nakamura, D. Matsumoto, Cogenital leiomyomatous epulis: a case report with immunohistochemical study, Pathology International 50 (2000) 999–1002. [27] L. Correˆa, M. Lotufo, M.T. Martins, N. Sugaya, S.C. de Sousa, Leiomyomatous hamartoma of the incisive papilla, Journal of Clinical Pediatric Dentistry 25 (2001) 157–159. [28] O. Kujan, S. Clark, P. Sloan, Leiomyomatous hamartoma presenting as a congenital epulis, British Journal of Oral and Maxillofacial Surgery 45 (2007) 228–230. [29] S. Iida, M. Kishino, H. Senoo, M. Okura, I. Morisaki, M. Kogo, Multiple leiomyomatous hamartoma in the oral cavity, Journal of Oral Pathology and Medicine 36 (2007) 241–244.
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[30] H. Zaitoun, A. Triantfyllou, Smooth muscle hamartoma of the hard palate, Journal of Oral Pathology and Medicine 36 (2007) 245–249. [31] P.A. Kreiger, L.M. Ernst, L.M. Elden, K. Kasahaya, F. Alawi, P.A. Russo, Hamartomatous tongue lesions in childrens, American Journal of Surgical Pathology 31 (2007) 1186–1190. [32] P.R. de Faria, J.D. Batista, A.F. Duriguetto Jr., K.C. Souza, I. Candelori, S.V. Cardoso, et al., Giant leiomyomatous hamartoma of the tongue, Journal of Oral and Maxillofacial Surgery 66 (2008) 1476–1480. [33] M. Nava-Villalba, F. Ocampo-Acosta, A. Seamanduras-Pacheco, B.C. Aldape-Barrios, Leiomyomatous hamartoma: report of two cases and review of the literature, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics 105 (2008) e39–e45. [34] U. Joos, G.E. Anastassov, Treatment of craniofacial midline clefts in association with hamartomas: report of three cases, Journal of Oral and Maxillofacial Surgery 56 (1998) 383–392. [35] S. Jank, H.W. Kelderer, E.J. Raubenheimer, W. Puelacher, Medial tongue cleft associated with intraoral hamartoma–case report and review of literature, International Journal of Oral and Maxillofacial Surgery 37 (2008) 296–299. [36] C.W. Senders, E.C. Peterson, A.G. Hendrickx, M.A. Cukierski, Development of the upper lip, Archives of Facial Plastic Surgery 5 (2003) 16–25.
Contents lists available at SciVerse ScienceDirect
International Journal of Pediatric Otorhinolaryngology Extra journal homepage: www.elsevier.com/locate/ijporl
Case Report
Oral leiomyomatous hamartoma associated with upper lip midline malformation: Case report and review of the literature ˜ ach b, Saulo Gabriel Moreira Falci a,*, Ana Terezinha Marques Mesquita a, Ma´rio Jose´ Roman c a Oslei Paes de Almeida , Ca´ssio Roberto Rocha dos Santos a b c
Department of Oral Diagnosis and Oral Surgery, Diamantina Dental School, Federal University of Vales do Jequitinhonha e Mucuri (UFVJM), Diamantina, Minas Gerais, Brazil Department of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, Sa˜o Paulo, Brazil
A R T I C L E I N F O
A B S T R A C T
Article history: Received 8 November 2012 Received in revised form 10 December 2012 Accepted 12 December 2012 Available online 10 January 2013
A 3-month-old male patient presented an upper lip malformation associated to a polypoid nodule in the maxillary anterior alveolar ridge. Microscopically, the nodule was predominantly composed by a nonencapsulated smooth muscle proliferation intermingled by numerous blood vessels of varied sizes and scattered small nerve fibers. The smooth muscle tissue was positive for desmin and smooth muscle actin, while endothelial cells were highlighted by CD34 staining. The final diagnosis was of an oral leiomyomatous hamartoma associated with upper lip malformation. After surgical treatment, no recurrence has been observed after 2 years of follow-up. ß 2012 Elsevier Ireland Ltd. All rights reserved.
Keywords: Leiomyomatous hamartoma Malformation Lip diseases
1. Introduction Hamartoma is a benign localized malformation formed by proliferation of tissues normally found at the site of the lesion [1]. It is formed during the development of the affected area, as disorganized and ill-defined normal tissues commonly found in the liver, spleen, kidneys, lungs, and pancreas. Most cases are successfully treated by surgical excision, and recurrences are not expected [1–3]. In the oral cavity vascular malformations are the most common hamartomas, but other tissues can predominate as: smooth and skeletal muscles, nerves, fat, salivary and sebaceous glands and lymphoid tissue [2,4–7]. Leiomyomatous hamartoma (LH) of the oral cavity is composed predominantly by smooth muscle, likely derived from blood vessels walls and usually presenting as a pedunculated or sessile nodule in the tongue or gingival/alveolar ridge of patients in their first decade of life [2–8]. To the best of our knowledge, 32 cases of oral LH have been published in the English-language literature [2,8–33], so far, nine of those affected the anterior maxilla and none of them exhibited
* Corresponding author at: Universidade Federal dos Vales do Jequitinhonha e Mucuri (UFVJM), Rua da Glo´ria 187, Pre´dio 1, Clı´nica de Cirurgia Bucal, Campus I, CEP: 39100/000 Diamantina, Minas Gerais, Brazil. Tel.: +55 38 3532 6000; fax: +55 38 8817 1454. E-mail address: [email protected] (S.G.M. Falci). 1871-4048/$ – see front matter ß 2012 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.pedex.2012.12.001
lip malformation (Table 1). The aim of the present study is to report an unusual clinical presentation of oral LH associated with upper lip midline malformation in an otherwise healthy child. 2. Case report A 3-month-old male patient was referred to the Oral Surgery Service of the author’s university, for management of an oral exophytic lesion in the maxillary anterior alveolar ridge. According to his mother, the lesion was noted at birth, it is asymptomatic despite of some breast-feeding difficulties. Period of pregnancy was uneventful, and the baby delivered normally at full-term. There was no family history of congenital abnormalities. Extra-oral examination revealed an upper lip midline malformation showing a linear depression on the philtrum (Fig. 1A). Intra-oral examination showed a pedunculated multilobated nodule in the anterior maxillary alveolar ridge connected to the malformed upper labial frenulum, which was attached to the anterior region of the maxilla. The lesion was slightly reddish, firm on palpation, covered by a smooth surface and measuring approximately 2 cm (Fig. 1B). No signs of true lip or palatal cleft were observed. The differential diagnosis included a reactive lesion, congenital granular cell epulis, teratoma, and hamartoma. Under general anesthesia, the patient was submitted to a surgical excision of the lesion and an upper lip reconstruction. Microscopically, the lesion was covered by normal stratified squamous epithelium and the submucosa was mainly composed of a circumscribed non-encapsulated proliferation of
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S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
Table 1 Cases reported of smooth muscle predominant hamartomas in English-language literature. First author
Year
Cases
Age
Gnd
Location
Stamm [9] Perri [10] Takahashi [11] Hinshaw [12] Ishii [13] Demuth [14] Mushimoto [15] Kajiyama [16] Kanekawa [17] Becker [18] Seki [19] Ng [20] Semba [21] Misawa [22] Goldsmith [23] Napier [24] de la Rosa-Garcia [25] Takeda [26] Kobayashi [2] Correˆa [27] Kujan [28] Iida [29]
1945 1956 1962 1963 1968 1981 1982 1983 1989 1984 1991 1992 1993 1994 1995 1996 1999 2000 2001 2001 2007 2007
1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1
Birth 34 years 2 months 4 years 4 months 1 year 11 months 4 years 3 years Birth 2 years 3 months 24 years 1 year 1 year 5 years 6 years 10 months 3 months 6 years 11 months 2 years
F F F F F M F F M M F F M F M F M M M F F M
Zaitoun [30]
2007
1
8 years
F
Posterior tongue Posterior tongue Median maxilla Posterior tongue Posterior/anterior tongue Posterior tongue Median maxilla Median maxilla Median maxilla Posterior tongue Median maxilla Incisive papilla Anterior maxilla Median maxilla Posterior tongue Hard palate Anterior tongue Anterior maxilla Posterior tongue Median maxilla Anterior maxilla Posterior/anterior tongue Incisive papilla Incisive papilla
Kreiger [31]
2007 2007 2007 2007 2007
1 1 1 1 1
8 4 5 1 5
M F F M M
Anterior tongue Anterior tongue Middle tongue Anterior tongue Middle tongue
de Faria [32]
2008
1
61 years
F
Posterior tongue
Nava-Villalba [33]
2008
1 1
19 years 5 months
F M
Incisive papilla Posterior tongue
Zhang [8] Present case
2011
1 1
2 years Newborn
F M
Median maxilla Labial frenulum
days months months year years
Gnd, gender; M, male; F, female.
eosinophilic smooth muscle fibers, which were intermingled to numerous blood vessels of varied sizes and scattered small nerve fibers (Fig. 2A and B). By immunohistochemistry, the muscle bundles were strongly positive for desmin (D33, 1:1000, Dako, Denmark; Fig. 2C) and smooth muscle actin (1A4, 1:400, Dako, Denmark; Fig. 2D). Blood vessels of varied sizes and some stromal fibroblasts-like cells were highlighted by CD34 staining (QBEnd 10, 1:200, Dako, Denmark; Fig. 2E), and only small nerve fibers within the lesion were stained by S100 protein (Polyclonal, 1:10,000,
Dako, Denmark; Fig. 2F). The final diagnosis was of an oral leiomyomatous hamartoma associated with upper lip malformation of the midline. The patient was surgically treated, with no recurrence after 2 years of follow-up (Fig. 3). 3. Discussion The first case of leiomyomatous hamartoma (LH) of the oral cavity reported in the literature was a dorsal tongue lesion in a
Fig. 1. Clinical features of oral leiomyomatous hamartoma associated with an upper lip midline malformation. (A) Note the incipient midline cleft of the upper lip with focal absence of the vermilion border. (B) Intraoral examination showed a pedunculated and multilobulated reddish nodule covered by smooth surface and located in the anterior maxillary alveolar ridge. Note the wrong insertion of the labial frenulum on the midline alveolar ridge closed associated to the multilobulated nodule.
S.G.M. Falci et al. / International Journal of Pediatric Otorhinolaryngology Extra 8 (2013) e17–e21
e19
Fig. 2. Microscopical features of oral leiomyomatous hamartoma. A non-encapsulated proliferation of eosinophilic bundles of smooth muscle intermingled with blood vessels of varied sizes (H&E, A, 25 and B, 100). The smooth muscle tissue was, as expected, immunopositive for desmin (Immunoperoxidase, C, 25) and smooth muscle actin (D, 100). Stromal spindle cells were positive for CD34 (E, 100) and negative for S100 protein (F, 400).
newborn girl [9]. Since then, approximately 32 cases have been reported in the literature (Table 1). Usually, LH of the oral cavity present as a sessile or pedunculated normal-colored small nodule covered by smooth surface and preferably localized in the tongue (mainly posterior dorsum), and anterior maxillary [2,8]. The age of the patients at the time of diagnosis varied from birth to 61 years, with about (90%) being diagnosed in their first decade of life with a median age of 5 years. As the present case, most of the lesions are congenital (Table 1). A single case presented multiple lesions of oral LH [29]. This is the first case of the literature presenting an unusual association between an oral LH and a soft tissue midline malformation of the upper lip in an otherwise healthy patient. The base of the tongue (foramen cecum region) and the upper midline gingiva/alveolar ridge are considered fusion regions of different tissues during embryologic development, what could explain the predilection of oral hamartomas for these regions [2] as seen in the present case. Although LH is not usually associated with malformed oral structures, different types of oral hamartomas can be associated with midline craniofacial clefts [34] and orofacial digital syndromes-related tongue clefts [35]. The present case of LH showing midline lip malformation, seems probably is part of the clinical spectrum of non-syndromic tissues malformation.
The complete development of the midface is achieved by the fusion of three different bilateral embiologic structures: medial nasal, lateral nasal and maxillary prominences [36]. Medial nasal prominence is responsible for the origin of the dorsal ridge of the nose, the columella of the nose and the lip philtrum. The ala of the nose is created by the lateral nasal prominence while the cheek and lateral part of the upper lip is formed from the maxillary prominence. The upper lip vermilion likely develops from the maxillary prominence [36]. The clinical appearance of the present case might be attributed to an incomplete fusion of the medial nasal and maxillary prominences leading to an upper lip midline incipient cleft, which was directly inserted in the oral LH of the anterior maxillary alveolar ridge. Microscopically, oral LH should be differentiated from the congenital type of oral leiomyoma [2]. In the present case, the illdefined and disorganized smooth muscle bundles were positive for desmin and smooth muscle actin as expected, intermingled by small nerves and blood vessels. Most leiomyomas of the mouth originate from blood vessels walls, showing areas of solid growth. Oral LH usually presents slow growth potential, but sometimes it becomes obvious after abrupt enlargement in a patient with apparent no congenital lesion [2]. The surgical excision of oral LH is not strictly necessary, but it is the treatment of choice, especially
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Fig. 3. (A) Immediate post-surgical clinical aspect of the patient. (B) Complete healing of the midline upper lip vermilion border, 2 years after the surgical procedure. (C) Intraoral examination revealed normal teeth eruption and no signs of recurrence of the lesion during the follow-up. (D) Radiographic features exhibiting normal development of the alveolar bone and teeth of the anterior maxillary region.
for cases the baby presents suckling difficulties. The prognosis is good and recurrence is no expected [2]. The patient of the present case was treated by surgical removal of the lesion and reconstruction of the midline upper lip, with no evidences of recurrence after 2 years of follow-up. In summary, we present an unusual association between a congenital oral LH and upper lip midline malformation in a 3month-old male. This case illustrates that oral pathologists and surgeons should be aware for the diagnosis of an oral hamartoma when evaluating patients with midline ill-formed structures of the oral and maxillofacial region. Conflict of interest statement There are no conflicts of interest in this paper. References [1] D.G. Gardner, The concept of hamartomas: its relevance to the pathogenesis of odontogenic lesions, Oral Surgery, Oral Medicine, Oral Pathology 45 (1978) 884–886. [2] A. Kobayashi, T. Amagasa, N. Okada, Leiomyomatous hamartoma of the tongue: case report, Journal of Oral and Maxillofacial Surgery 59 (2001) 337–340. [3] M. Agostini, J.E. Leo´n, M.G. Kellermann, R. Valiati, E. Graner, O.P. de Almeida, Myxoid calcified hamartoma and natal teeth: a case report, International Journal of Pediatric Otorhinolaryngology 72 (2008) 1879–1883. [4] F. Ide, K. Obara, K. Mishima, I. Saito, Ganglioneuromatous hamartoma of the tongue, Journal of Clinical Pathology 59 (2006) 887. [5] 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 (2007) 58–59. [6] C.B. Fowler, N.J. D’Silva, Clinical–pathological conference: case 5, Head and Neck Pathology 4 (2010) 234–237.
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