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Multiple cutaneous rhabdomyomas in a child

European Journal of Dermatology. Volume 14, Number 6, 418-20, November-December 2004, Clinical report

Summary

Author(s) : Hiroshi Kawada, Juri Kawada, Kunio Iwahara, Sachio Kawai, Shigaku Ikeda, Hideoki Ogawa , Department of Dermatology, Juntendo University School of Medicine 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan, Kohtoh Hospital, Juntendo University School of Medicine, Tokyo, Japan, Department of Cardiology, Juntendo University School of Medicine, Tokyo, Japan.

Summary : We recently encountered a 4 year-old male patient with congenital, multiple, corporeal, cutaneous rhabdomyomas. Pathological examination of the excised tumors showed lobular structures in the dermis. The tumor cells contained spherical and polygonal eosinophilic cytoplasm with peripherally dislocated nuclei, and were positive for myogloblin staining. Extra-cardiac rhabdomyoma is an extremely rare condition, and our case might be considered the first of its kind in Japan.

Keywords : Rhabdomyoma, hamartoma

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ARTICLE

Auteur(s) :, Hiroshi Kawada¹, Juri Kawada¹, Kunio Iwahara², Sachio Kawai³, Shigaku Ikeda^1,*, Hideoki Ogawa¹

¹Department of Dermatology, Juntendo University School of Medicine 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
²Kohtoh Hospital, Juntendo University School of Medicine, Tokyo, Japan
³Department of Cardiology, Juntendo University School of Medicine, Tokyo, Japan

accepté le 12 Mai 2004

Rhabdomyomas are rare, benign tumors derived from striated muscle, and can be classified generally into two types: the cardiac type and the extra-cardiac type. Incidence of extra-cardiac rhabdomyoma comprises less than 2% of the total of benign and malignant rhabdomyomas. Extra-cardiac rhabdomyomas have been observed less frequently on the head, neck, pharynx, larynx, and the bottom of the oral cavity. Almost all reported extra-cardiac rhabdomyomas are solitary tumors [1]. We report here on a pediatric case of multiple corporeal cutaneous rhabdomyomas, and compare the features of this case with those of other documented instances.

Case report

A 4 year-old male patient arrived at our outpatient department with multiple, corporeal subcutaneous tumors. The tumors were initially detected during a routine physical examination at one and a half years of age. On the initial examination, 5 slightly elevated subcutaneous tumors (hard but elastic in texture, egg-shaped, ranging in diameter from 1 to 4.5 cm) were palpable (( Figure 1 )). The surface skin of the tumors showed normal coloration. Palpation indicated that the tumors were not adherent to the subcutaneous tissue.

The results of the routine blood and urine tests were almost all within normal limits. Ultrasound examination did not show any visceral involvement.

An excisional biopsy specimen of one of the smaller tumors was examined by hematoxylin and eosin staining and immuno-histochemical method. At the time of the biopsy, the tumor was elastic, soft, and slightly adherent to the surrounding fibrous tissue. The tissue of the tumor was ashy-white, as revealed by the excision. A histological examination showed that the tumor consisted of multiple lobular structures. Each lobule was composed of spherical and polygonal eosinophilic cells with peripherally dislocated nuclei, the lobules themselves separated by a fibrous septum. There was no atypia of the tumor cells (( Figure 2a )). The cytoplasm of the cells was positive for phosphotungstic acid hematoxylin staining, and the cells showed well-differentiated striated muscle structure (( Figure 2b )). Neither crystaline structures nor hyper-glycogen deposition within the cells were detected by hematoxylin and eosin staining and PAS staining. The results of the immuno-histochemical stains showed that the tumor cells stained positive for myoglobin (( Figure 3a )), ( Figure 3b ) shows control staining of myocardial tissue. Tumor cells were also positive for desmin, muscle specific actin, and vimentin (data not shown). On the basis of these observations, the patient was diagnosed with adult type multiple cutaneous rhabomyomas.

Discussion

Rhabdomyomas are extremely rare benign tumors of striated muscle that can be classified generally into two categories: cardiac rhabdomyomas and extra-cardiac rhabdomyomas [2]. Extra-cardiac rhabdomyomas are further classified into the adult type, the fetal type, the genital type and rhabdomyomatous mesenchymal hamartomas, according to the clinical and histological presentations [3]. Adult type rhabdomyomas constitute a large percentage of extra-cardiac rhabdomyomas.

Clinically, adult type rhabdomyomas appear soon after birth or in adulthood, on the head and neck areas (especially on the tongue, the pharynx and the larynx) of males. Fetal type rhabdomyomas appear on the head and neck areas (especially in the retro-auricle area) of the fetus [4]. Genital type rhabdomyomas appear to develop polypoid or cauliflower-like nodules on the vaginal and other genital areas of middle-aged females [5]. Rhabdomyomatous mesenchymal hamartomas appear as multiple polypoid tumors on the periorbital and perioral areas [6]. The tumors are usually non-symptomatic.

Histologically, the inner tissue of adult type rhabdomyomas is ashy-white/yellow to light brown in color. In the tumor, proliferation of oval, spherical and polygonal cells with eosinophilic cytoplasm and peripherally dislocated nuclei is typical. In some instances, there are large vacuolar changes in the cytoplasm of the cells, causing the remaining muscle fibers to form spider web-like structures [7]. Both the clinical presentation and the histological findings in the present case, namely, the ashy-white coloration of the tissue, the spherical and polygonal shape of the cells, the presence of eosinophilic cytoplasm and peripherally dislocated nuclei, resulted in the diagnosis of adult type rhabdomyoma.

Extra-cardiac rhabdomyomas are a rare condition, and as far as we have been able to determine, only about 200 cases have been reported in the medical literature up to 1999. Moreover, corporeal rhabdomyomas are extremely rare, with only 5 cases having been reported worldwide in the past twenty years [8-10]. No such cases have as yet been reported in Japan. With respect to multiple rhabdomyomas, only 8 cases have been reported in the past 20 years [11-17]. On the basis of these statistics, the present case can be considered a rare instance of multiple corporeal cutaneous rhabdomyomas.

Granular cell tumors, hibernomas, reticulohistiocytomas, etc should be distinguished from the rhabdomyoma. A combination of myogloblin staining and HE staining is recommended for a correct diagnosis.

The mechanisms governing the formation and growth of rhabdomyomas are still largely unclear, although studies indicate that material remaining from stem cells in mature skeletal muscles might be an etiological factor in the growth of this type of tumor [3].

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