Volume 3, Issue 3 , Pages 109-112, September 2008
Lingual hamartoma in a newborn with chromosome 2q terminal deletion
Article Outline
Summary
Hamartoma, defined as tumour-like overgrowths of tissue, may occur in any organ in the body and is commonly seen in liver, spleen, kidney and lung, however, lingual hamartoma is a rare entity. Terminal deletion of chromosome 2q is a chromosomal abnormality causing various craniofacial malformations, and no reports can be obtained about patients who have chromosomal disorder presenting with lingual hamartoma. We describe the first case of lingual hamartoma in a patient with terminal deletion of chromosome 2, and summarize the clinical management and the histogenesis of lingual hamartoma from the literature.
A 9-month-old girl who had chromosome 2q terminal deletion consulted Sapporo Medical University hospital for evaluation of upper airway obstruction. She had retractive breathing soon after birth and required treatment with continuous positive airway pressure (CPAP). Physical examination showed craniofacial abnormalities, such as round face, high palate, aural atresia, anotia and so on. Fiberoptic examination and CT scan revealed a mass on the right side of the tongue base. She underwent surgical resection and the tumour was pathologically diagnosed as hamartoma. After surgery, her respiratory condition improved to the extent where CPAP was withdrawn. There has been no tumour recurrence during the 1-year follow-up period.
Keywords: Lingual hamartoma, Chromosome 2q terminal deletion
1. Introduction
In 1904, hamartoma was first reported and defined as a focal, tumour-like congenital malformation in which one or several normal tissue components of a organ are abnormally arranged [1], possibly occurring in any organ of the body. In the head and neck region, several cutaneous involvements such as pigmented nevus or port-wine stain are relatively common lesions considered as hamartomatous, however, hamartomas in other areas of the head and neck are uncommon [2]. Terminal deletion of chromosome 2q is a chromosomal abnormality causing various craniofacial malformations, but no reports can be obtained about chromosomal disorders in association with lingual hamartoma. We report the first case of lingual hamartoma, in a newborn, with chromosome 2q terminal deletion.
2. Case report
A 9-month-old girl was referred to Sapporo Medical University hospital for evaluation of respiratory disturbance, dysphagia and hearing loss. She was born after a normal term pregnancy and vaginal delivery but retractive breathing was detected immediately after birth. There was no known family history of birth defects. Physical examination was remarkable for dysmorphic features including round face, prominent forehead, depressed nasal bridge, micrognathia, high palate, aural atresia and anotia. Chromosome analysis with G-banding revealed chromosome 2q terminal deletion (46XX del (2)(q37.1)). She required treatment with continuous positive airway pressure (CPAP) and tubal feeding.
Flexible endoscopic examination confirmed a mass on the right side of the lingual base (Fig. 1). The surface was almost the same as the tongue, so it looked just like a “lobulated tongue”. Non-enhanced computed tomographic (CT) scan showed a homogenous soft tissue density mass measuring 10
mm×10mm×15mm in size (Fig. 2). Normally detected thyroid on the CT excluded ectopic lingual thyroid. The remainder of the examination revealed no other lesions. The lingual tumour was surgically resected with YAG laser under general anesthesia. We had no difficulty in inserting an endotracheal tube and there was little intraoperative bleeding. Postoperative course was uneventful. The surgically resected specimen was a soft mass measuring 11mm×15mm, the macroscopic appearance of which is shown in Fig. 3. Histopathology (Fig. 4) showed a tumour-like mass covered with stratified squamous epithelium and composed of randomly oriented striated muscle fibers and minor salivary glands in a connective stroma, and the tumour was diagnosed as hamartoma of the tongue.
Fig. 1.
Endoscopic appearance of lingual hamartoma. PW, posterior wall of pharynx; SP, soft palate; Tm, tumour; arrow, feeding tube.
Fig. 2.
Axial non-enhanced CT scan shows a homogenous soft tissue mass (arrows, 10
mm×10mm×15mm in size) arising from base of the tongue.
Fig. 3.
Gross appearance of the resected tumour.
Fig. 4.
Histopathology of the lingual hamartoma (hematoxylin-eosin stain, scale bar
=20μm).
Now she has no difficulty in swallowing and CPAP is not required except when the respiratory status is extremely worsened. There has been no tumour recurrence during the 1-year follow-up period.
3. Discussion
Hamartoma is a tumour-like malformation, which is commonly seen in liver, spleen, kidney and lung, and the occurrence on tongue is rare. As far as we know, 25 case reports of lingual hamartoma [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], [12], [13], [14], [15], [16], [17], [18], [19], [20], [21], [22], [23], [24], summarized in Table 1, have been published in the English literature since Stamm et al. reported the first patient in 1945. The patients comprised 7 males and 18 females, and the ages at presentation ranged from birth to 60 years (median, 20 months; mean 9.51 years). The commonest site was the base of the tongue (15 cases). The most important symptom of lingual hamartoma was dysphagia, however symptoms were often absent (15 cases, 60%).
Table 1. Summary of the reported cases of lingual hamartoma
| Year | Author | Sex | Age at presentation | Site | Symptoms |
|---|---|---|---|---|---|
| 1945 | Stamm | F | Birth | Base | Dysphagia |
| 1956 | Perri | F | 34 years | Base | Globus |
| 1963 | Hinshaw | F | 4 years | Base | None |
| 1968 | Ishii | F | 4 months | Base and anterior tongue (4 masses) | None |
| 1981 | Demuth | M | 2 months | Base | Dysphagia |
| 1984 | Becker | M | Birth | Base | Dysphagia |
| 1985 | Cutchavaree | F | 24 years | Mid-dorsum | Dysphagia |
| 1985 | Takato | F | 7 years | Base | Dysphagia |
| F | 2 years | Base | None | ||
| 1986 | Herzog | F | 6 weeks | Base | None |
| 1989 | Takimoto | F | 6 years | Base | None |
| 1991 | Miyamoto | F | 21 months | Bifurcation | None |
| 1992 | Owen | F | 9 months | Base | None |
| 1995 | Yoshihara | F | 8 months | Base | Dysphagia |
| 1995 | Goldsmith | M | 16 months | Base | Choking on swallowing |
| 1998 | Ide | F | 60 years | Lateral border | None |
| 1999 | de la Rosa-Garcia | M | 6 years | Tip of tongue | None |
| 2001 | Halfpenny | F | 4 years | Anterior tongue | None |
| 2001 | Kobayashi | M | 3 months | Dorsum | None |
| 2001 | Wallace | F | 41 years | Base | Stridor, voice change, sleep apnea |
| 2003 | Gillett | F | 32 years | Postero-lateral border | None |
| 2004 | Steele | M | 12 years | Lateral border | None |
| 2006 | Ameh | M | 5 months | Dorsum | None |
| 2006 | Noguchi | F | Birth | Dorsum | None |
| 2007 | Seki | F | Birth | Base | Respiratory distress |
The histogenesis of hamartoma has yet to be revealed, but the etiology on the base of tongue can be explained as follows [3], [4], [6], [7], [12]: in the developmental processes of the tongue, the anterior two thirds of tongue and the posterior third are formed separately, and they fuse together making a V-shaped structure (terminal sulcus). Overproduction of tissue can easily occur around the terminal sulcus, which is the juncture of several embryologic processes, resulting in formation of a hamartoma. Craniofacial malformations like cleft palate are often seen in patients with lingual hamartoma [6], [7], [13], [24], [25], so occurrence of these abnormalities may be associated with formation of lingual hamartoma.
To our knowledge, this is the first case of lingual hamartoma in a patient with terminal deletion of chromosome 2. It was reported that patients with 2q terminal deletion often presented various craniofacial malformations, for example, prominent forehead, depressed nasal bridge, dysmorphic ears and nose, cleft palate and so on [26]. As stated above, our patient had characteristic craniofacial and integumentary features as well, leading to morphological narrowing of the pharynx. The respiratory disturbance immediately after birth was probably caused by upper airway obstruction owing to the congenital pharyngeal narrowing as well as the lingual tumour. This is why CPAP is still necessary even after surgery.
The differential diagnosis of a solid lingual mass in children includes lingual thyroid, hamartoma, neurofibroma, fibromatosis, rhabdomyoma, rhabdomyosarcoma and granular cell myoblastoma [23], [25], [27]. Preoperative diagnosis is usually difficult because they can only be distinguished by histopathology. Complete excision with a small surgical margin is the treatment of choice. To date, there have been no reports of recurrent cases or malignant change in lingual hamartoma after resection, so the prognosis is good in general.
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PII: S1871-4048(07)00095-0
doi:10.1016/j.pedex.2007.12.002
© 2007 Elsevier Ireland Ltd. All rights reserved.
Volume 3, Issue 3 , Pages 109-112, September 2008
