Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report

Simona Portaro, Antonino Naro, Claudio Guarneri, Giuseppe Di Toro, Alfredo Manuli, Rocco Salvatore Calabrò

Research output: Contribution to journalArticle

Abstract

RATIONALE: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a cytosine, guanine, thymine (CTG) trinucleotide repeat expansion in the non-coding region of dystrophia myotonica protein kinase gene, causing a multisystem involvement. To date, few studies have been performed to evaluate skin features in DM1 patients, but none reported on the possible association between the disease and tongue hemangiomas.

PATIENTS CONCERNS: We report a case of a 63-year-old woman affected by DM1 and presenting, at the intraoral examination, several swelling and buish lesions occurring on buccal and palatal mucosa, and in the anterior two-thirds and margins of the tongue.

DIAGNOSIS: Multiple tongue hemangiomas in DM1 patient.

INTERVENTIONS: Color Doppler ultrasound revealed hypoechoic lesions with intermittent color picking suggestive of vascular lesion. Surgical excision was performed under general anesthesia. Histopathological examination was compatible with the diagnosis of cavernous hemangiomas.

OUTCOMES: At 6 months follow-up, a part from the cosmetic deformity, patient's hemangiomas did not bleed, but caused functional problems with speaking, mastication, and deglutition, in addition to the same symptoms induced by DM1.

LESSONS: This case may add new details to better characterize the DM1 phenotype, suggesting that even tongue hemangiomas may be part of the DM1 multisystem involvement.

Original languageEnglish
Pages (from-to)e13448
JournalMedicine
Volume97
Issue number48
DOIs
Publication statusPublished - Nov 2018

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Myotonic Dystrophy
Hemangioma
Tongue
Mouth
Tongue Diseases
Color
Trinucleotide Repeat Expansion
Doppler Ultrasonography
Cavernous Hemangioma
Thymine
Mastication
Cytosine
Guanine
Mouth Mucosa
Deglutition
Cosmetics
General Anesthesia
Protein Kinases
Blood Vessels
Phenotype

Keywords

  • Female
  • Hemangioma, Cavernous/etiology
  • Humans
  • Middle Aged
  • Mouth/pathology
  • Mouth Neoplasms/etiology
  • Myotonic Dystrophy/complications
  • Tongue/pathology
  • Tongue Neoplasms/etiology

Cite this

Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient : A case report. / Portaro, Simona; Naro, Antonino; Guarneri, Claudio; Di Toro, Giuseppe; Manuli, Alfredo; Calabrò, Rocco Salvatore.

In: Medicine, Vol. 97, No. 48, 11.2018, p. e13448.

Research output: Contribution to journalArticle

Portaro, Simona ; Naro, Antonino ; Guarneri, Claudio ; Di Toro, Giuseppe ; Manuli, Alfredo ; Calabrò, Rocco Salvatore. / Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient : A case report. In: Medicine. 2018 ; Vol. 97, No. 48. pp. e13448.
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AB - RATIONALE: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a cytosine, guanine, thymine (CTG) trinucleotide repeat expansion in the non-coding region of dystrophia myotonica protein kinase gene, causing a multisystem involvement. To date, few studies have been performed to evaluate skin features in DM1 patients, but none reported on the possible association between the disease and tongue hemangiomas.PATIENTS CONCERNS: We report a case of a 63-year-old woman affected by DM1 and presenting, at the intraoral examination, several swelling and buish lesions occurring on buccal and palatal mucosa, and in the anterior two-thirds and margins of the tongue.DIAGNOSIS: Multiple tongue hemangiomas in DM1 patient.INTERVENTIONS: Color Doppler ultrasound revealed hypoechoic lesions with intermittent color picking suggestive of vascular lesion. Surgical excision was performed under general anesthesia. Histopathological examination was compatible with the diagnosis of cavernous hemangiomas.OUTCOMES: At 6 months follow-up, a part from the cosmetic deformity, patient's hemangiomas did not bleed, but caused functional problems with speaking, mastication, and deglutition, in addition to the same symptoms induced by DM1.LESSONS: This case may add new details to better characterize the DM1 phenotype, suggesting that even tongue hemangiomas may be part of the DM1 multisystem involvement.

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