Dermatology Online Journal

Melkersson Rosenthal syndrome associated with ipsilateral facial, hand, and foot swelling
Cihangir AliağaoğluMD ¹, Umran YıldırımMD ², Hülya AlbayrakMD ¹, Nadir GoksugurMD ³, Ramazan MemişoğullarıMD ⁴, Ayşe KavakMD ¹
Dermatology Online Journal 14 (1): 7

1. Department of Dermatology, Abant Izzet Baysal University, Faculty of Medicine, Düzce, Turkey
2. Department of Pathology, Abant Izzet Baysal University, Faculty of Medicine, Düzce, Turkey
3. Department of Dermatology, Abant Izzet Baysal University, Faculty of Medicine, Bolu, Turkey
4. Department of Biochemistry, Abant Izzet Baysal University, Faculty of Medicine, Düzce, Turkey

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Abstract

Melkersson-Rosenthal syndrome is a complex neuromucocutaneous disorder. A 60-year-old woman presented with granulomatous cheilitis of the lower lip, unilateral facial paralysis, and ipsilateral facial and acral swelling. The result of histopathological evaluation in extremities and inferior lip was compatible with Melkersson-Rosenthal syndrome.

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Melkersson-Rosenthal syndrome (MRS) is a systemic disorder that has a variable course and granulomatous nature. It involves nerves, mucous membranes, and skin, especially in orofacial region. Melkersson-Rosenthal syndrome is characterized by oral non-caseating granulomatous lesions, similar to those associated with Crohn disease, sarcoidosis, food allergies, contact allergies, and focal dental sepsis. Although early manifestations of the syndrome can start at any age, MRS generally develops at the end of the second decade of life. It affects females 3 times as often as males. Melkersson-Rosenthal syndrome is reported also to occur in childhood. Prevalence of this syndrome is about 0.08 percent. The typical course is chronic recurrent or progressive involvement over decades [1, 2, 3].

Melkersson-Rosenthal syndrome with swellings of hand and foot is rare [4]. This is an interesting MRS case since she had simultaneous swellings of face, hand, foot, and body. This presentation of MRS has not been published in the English literature.

Clinical synopsis

A 60-year-old women came to our clinic with the complaints of lip swelling. She reported that her face was paralyzed in childhood and that she felt swelling of her lower lip, hand, and foot when she was age 20. A family history of MRS was negative.

Examination revealed swelling of the left side of her face, and swelling with partial crusting and external deviation of the lower lip (Fig. 1A). Histopathologic examination of a skin (lip) sample showed a marked dermal edema with perivascular infiltrates of lymphocytes, plasma cells, and histiocytes. Multiple small epithelioid-cell granulomas encircled by a rim of lymphocytes were seen around dilated vessels. Several Langhans-type multinucleated giant cells of were present both within granulomas and scattered throughout the dermis (Fig. 1B). There were swellings on left hand (forearm) and left foot (below the knee) (Figs. 2A and 2B). Biopsies were taken from both sites and showed a similar histologyólmarked edema, dilated vessels in the dermis, and perivascular infiltrates of lymphocytes (Fig. 2C). The tongue was normal and there was no adenopathy.

Figure 1	Figure 2
Figure 1. (A) Swelling on left side of face, swelling and crusting on the inferior lip and (B) granulomatous infiltratation in the dermis (H&Ex4). Figure 2. (A, B) Swellings on left hand and foot and (B) perivascular infiltrates of lymphocytes, dilated vessels and lymphatic channels in the dermis (H&Ex4).

Routine laboratory tests were negative or within normal range, including creatine phosphokinase, lactate dehydrogenase, aldolase, angiotensin-converting enzyme, serum calcium, complement (C3, C4, C1q) levels, free triiodothyronine, free thyroxine, thyroid-stimulating hormone, growth hormone, antinuclear antigens, and antinative DNA. Her VDRL and TPHA remained negative. Fecal occult blood test was negative. Chest and gastrointestinal-tract X-rays and sigmoidoscopy were normal. Cranial computed tomographic scanning was normal. Special stains for acid-fast bacilli (Ziehl-Nielsen) and fungi (periodic acid-Schiff), polarization for birefringent foreign bodies, polymerase chain reaction testing for herpes simplex virus and mycobacteria were all negative.

Discussion

Melkersson-Rosenthal syndrome is a systemic disorder with a variable course and granulomatous nature. It involves nerves, mucous membranes, and skin, especially in the orofacial region [1, 3]. Typical complaint is the presence of swelling in different areas involving lips commonly and adjacent areas of the cheek frequently. Facial palsy occurs in 30-50 percent of cases. The paralyzed side is generally the same side with swelling [2, 3]. Swellings may occur on extra-facial regions, such as the lumbar region and the dorsal aspect of the hands and feet [4]. Previous reports emphasize that swelling may occur in the area of paralysis independent of the granulomatous infiltration [2, 3]. Although the swellings of hand and foot were documented in literature, the interpretations about pathogenesis were insufficient [4]. The etiology and pathogenesis of MRS has not been determined. Several factors, such as infection, autoimmunity, neurotropic factors, atopy, and hypersensitivity to food additives have been implicated in the pathogenesis, but none of them are proven. Another possible mechanism is the vasomotor disturbances of both the vasa nervorum and the small arterioles of the subcutaneous tissues in response to unspecified stimuli in predisposed persons. An autosomal dominant inheritance with variable expression has been proposed in some cases of MRS [5].

The differential diagnosis of acral swelling includes lymphedema, acromegaly, sarcoidosis [4], and pachydermoperiostosis [6]. We have excluded these disorders considered in differential diagnosis; the growth hormone level was normal, no sebesous hyperplasia was detected in histopathlogical examination of the dermis, and no granulomatous infiltration characteristic of sarcoidosis was seen.

References

1. Gerressen M, Ghassemi A, Stockbrink G, et al. Melkersson-Rosenthal syndrome: case report of a 30-year misdiagnosis. J Oral Maxillofac Surg 2005; 63: 1035-9.

2. Stein SL, Mancini AJ. Melkersson-Rosenthal syndrome in childhood: successful management with combination steroid and minocycline therapy. J Am Acad Dermatol 1999; 41: 746-8.

3. Minor MW, Fox RW, Bukantz SC, Lockey RF. Melkersson-Rosenthal syndrome. J Allergy Clin Immunol 1987; 80: 64-7.

4. Odom RB, James WD, Berger TG. Andrews’ Diseases of the Skin: Clinical Dermatology. 9th ed. Philadelphia, WB Saunders Company, 2000; 996-997.

5. Cocuroccia B, Gubinelli E, Annessi G, et al. Persistent unilateral orbital and eyelid oedema as a manifestation of Melkersson-Rosenthal syndrome. J Eur Acad Dermatol Venereol 2005; 19: 107-11.

6. Seyhan T, Ozerdem OR, Aliagaoglu C. Severe complete pachydermoperiostosis (Touraine-Solente-Gole syndrome). Dermatol Surg 2005;31:1465-7.

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