|Year : 2016 | Volume
| Issue : 1 | Page : 50-52
Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with Down syndrome: A rare alliance
Balwinder Kaur Brar, BB Mahajan, Nidhi Kamra
Department of Dermatology, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India
|Date of Web Publication||4-Jan-2016|
Department of Dermatology, Guru Gobind Singh Medical College and Hospital, Saadiq Road, Faridkot, Punjab
Source of Support: None, Conflict of Interest: None
Melkersson–Rosenthal syndrome comprises of the triad of orofacial swelling, facial paralysis, and fissured tongue. It may present in monosymptomatic form as Meischer granulomatous cheilitis. Herein we report an unusual association of Meischer's cheilitis with Down syndrome.
Keywords: Down syndrome, granulomatous cheilitis, meischer granulomatous macrocheilitis
|How to cite this article:|
Brar BK, Mahajan B B, Kamra N. Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with Down syndrome: A rare alliance. Indian J Paediatr Dermatol 2016;17:50-2
|How to cite this URL:|
Brar BK, Mahajan B B, Kamra N. Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with Down syndrome: A rare alliance. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Feb 24];17:50-2. Available from: http://www.ijpd.in/text.asp?2016/17/1/50/172458
| Introduction|| |
Orofacial granulomatosis is a term generally used to describe swelling of the orofacial area, secondary to an underlying granulomatous inflammatory process. Melkersson–Rosenthal syndrome (MRS) (a triad of orofacial swelling, facial paralysis, and a fissured tongue) presents more commonly in a monosymptomatic form as Miescher granulomatous macrocheilitis. Hereby, we report a case of Miescher granulomatous macrocheilitis with Down syndrome because of its rare association.
| Case Report|| |
A 13-year-old female with typical Mongolian facies, history of delayed milestones, and low intelligence quotients was brought to our outpatient department with the chief complaint of gross swelling and deformity of both the upper and lower lip. Initially, the swelling was episodic and recurrent since 2 years. However, for the last 3 months, the swelling had tended to be persistent. There was no significant history of any cutaneous lesions, respiratory or gastrointestinal complaints. On examination, our patient showed enlargement and protuberance of both upper and lower lip with fissuring at places and slight perioral inflammation. The lips were firm, indurated and rubbery in consistency. No regional lymphadenopathy was present [Figure 1]. Buccal mucosa was hypertrophied. There was no evidence of any facial nerve or other cranial nerve paralysis in our patient. Her cutaneous examination revealed upslanting palpebral fissures, short and broad neck, and upward slant of forehead [Figure 1]. We made a probable diagnosis of Meischer granulomatous cheilitis with Down syndrome in our patient. Her routine investigations were within normal limits. Chest roentgenogram did not show any abnormality. Mantoux test was negative in our patient. A 4 mm punch biopsy obtained from the lower lip was consistent with our diagnosis [Figure 2].
|Figure 1: (a) Typical Mongolian facies with upslanting palpebral fissures with enlargement and fissuring of both upper and lower lips with slight perioral inflammation, (b) hypertrophic buccal mucosa|
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|Figure 2: Presence of upper and deep submucosal peri-vascular, as well as interstitial inflammatory infiltrate of lymphocytes, plasma cells, histiocytes, and occasional giant cells forming few epithelioid cell granulomas. Dilated lymphatic channels are also present|
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| Discussion|| |
Melkersson syndrome was described in 1928 as peripheral facial palsy and swelling of the lips. Rosenthal, in 1930, included the presence of a fissured tongue, completing the triad which defines the syndrome. The classic triad is uncommon and is present in 25–40% cases. The presence of two/one of the manifestations, with granulomatous cheilitis in the biopsy, is sufficient to make the diagnosis of oligosymptomatic or monosymptomatic form of MRS. In largest case series of MRS reported from India granulomatous cheilitis was consistent finding in all the six patients, while associated facial palsy, facial edema, and scrotal tongue was present in three, four, and one patient, respectively.
Clinical characteristics of MRS are described in [Table 1]. The differentials of macrocheilia are given in [Table 2].
Patients with Down syndrome are burdened with an extra chromosome 21. The list of important mucocutaneous manifestations in Down syndrome is given in [Table 3].
Two types of histology have been described for cheilitis granulomatosa: (1) The sarcoid type with noncaseating granuloma, and (2) The lymphedematous type showing lymphatic distension, lymphedema, and plasma cell infiltration  our patient showed the noncaseating granulomas as well as lymphatic distension.
Thus to summarize we have reported a case of Miescher granulomatous macrocheilitis in Down syndrome with only handful of cases reported in the literature and underlying pathogenesis still unknown. Meischer granulomatous cheilitis may thus be added to the wardrobe of various mucocutaneous manifestations associated with Down syndrome.
Declaration of Patient Consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial Support and Sponsorship
Conflicts of Interest
There are no conflicts of interest.
| References|| |
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Melkersson E. Ett fall av recidiverande facialispares i samband med ett angioneurotiskt ödem. Hygiea (Stockholm) 1928;90:737-41.
Rosenthal C. Klinisch-erbbiologischer Beitrag zur Konstitutionspathologie. Gemeinsames Auftreten von Facialislähmung, angioneurotischem Gesichtsödem und Lingua plicata in Arthritismus-Familien. Z Gesamte Neurol Psychiatr 1931;131:475-501.
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[Figure 1], [Figure 2]
[Table 1], [Table 2], [Table 3]