It is rare, and since most of the patients are oligo or monosymptomatic, it makes it difficult to diagnose. Rosenthal syndrome mrs to establish the aetiological role of foodstuffs andor additives and the possible associated immunological alterations. Melkerssonrosenthal syndrome associated with down syndrome. Dec 01, 1989 the melkersson rosenthal syndrome is an uncommon condition of uncertain pathogenesis and cause. Melkerssonrosenthal syndrome misdiagnosed as recurrent. A workup by the ophthalmology department led to the diagnosis of melkersson rosenthal syndrome.
Melkerssonrosenthal syndrome delay in the diagnosis of. The melkersson rosenthal syndrome as a rare cause of facial nerve palsy a case report. Few articles in the literature report series with more than 20 patients or focus on the facial nerve dominant presentation of mrs. Melkersson rosenthal syndrome and orofacial granulomatosis. This treatment resulted in a reduction of her blepharopasm. Melkerssonrosenthal syndrome information page national.
Oct 15, 2018 melkerssonrosenthal syndrome mrs is a rare, inherited syndrome that affects the nervous system and skin a neurocutaneous syndrome. Because of their granulomatous character, a relationship to crohns disease has been suggested. Within a welldocumented family aggregate of mrs, an index case simultaneously demonstrated all the elements of the triad, as well. Melkersson rosenthal syndrome mrs is a neuromucocutaneous disorder characterized by the following classic symptom triad. Melkersson rosenthal syndrome tdiamond, pgpatterson, tgemerson accepted 2 july 1990. Melkerssonrosenthal syndrome is the term used when there is cheilitis chronic swelling of the face, peripheral. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. The mieschers cheilitis is considered a variant of the melkersson rosenthal syndrome when affected individual present only the facial cheilitis. Orofacial swelling, particularly ofthe lips, tongue, buccal mucosaandgingiva is a feature of the localised granulomatous condition known as the melkersson rosenthal syndrome,1 but may also represent oral manifestations of chronic. Melkerssonrosenthal syndrome is characterized by recurrent periph eral facial palsy, recurrent or.
Melkerssonrosenthal syndrome mrs is a rare condition comprised of unilateral peripheral facial nerve palsy, episodic or progressive facial edema, and. The authors describe the case of an oligosymptomatic variant lip and tongue involvement with childhood onset, whose diagnosis was. Melkersson rosenthal syndrome jama dermatology jama network. The authors describe the case of an oligosymptomatic variant lip and tongue involvement with childhood onset, whose diagnosis was only established at the age of 19 years. Vitagliano melkerssonrosenthal syndrome associated with down syndrome. Melkersson rosenthal syndrome is a rare condition characterized by a triad of orofacial edema, facial paralysis, and fissured tongue. Melkersson rosenthal syndrome is a rare neuromucocutaneous disease with a chronic intermittent course, characterized by a classic triad of orofacial swelling, fissured tongue lingua plicata and facial paralysis. Diseases which are more or less confined to specific anatomic locations are of special interest. Melkerssonrosenthal syndrome in pediatric age group. Melkersson rosenthal syndrome jama dermatology jama. The melkersson rosenthal syndrome as a rare cause of facial. Monosymptomatic patients with mrs require a high index of suspicion.
Aug 15, 2020 a 51yearold female patient presented to our emergency department with malaise and a swollen lip that started a day prior to presentation. Melkersson rosenthal syndrome with partial oculomotor nerve palsy. Melkersson rosenthal syndrome is a rare condition which consists of progressive and recurrent orofacial edema, intermittent facial palsy, and lingua plicata. Melkersson rosenthal syndrome mrs is a rare neurological condition that includes a triad of symptoms including recurring facial paralysis, orofacial swelling, and fissured tongue. Melkerssonrosenthal syndrome successfully treated with. Melkerssonrosenthal syndrome mrs is a rare, noncaseating. Melkersson rosenthal syndrome associated to hashimotos. Mrs and hl are two unusual and complex clinical patterns that may present acutely and to our knowledge, an association between them has never been reported. Cheilitis granulomatosa and melkerssonrosenthal syndrome. The melkerssonrosenthal syndrome jama otolaryngologyhead. Labial swelling is the most common feature of this syndrome complex. The swelling used to subside with treatment, but there was no complete remission.
Melkersson rosenthal syndrome consists of the triad of recurrent orofacial swelling, relapsing facial paralysis and fissuring of the tongue. The purpose of this article is to arouse the reader to the existence of this entity, its prognostic implications, and its management. Melkersson rosenthal syndrome mrs is a complex neuromucocutaneous disorder characterized by localized orofacial oedema and cranial nerve dysfunction, frequently associated with minor signs, including furrowed tongue. Melkersson rosenthal syndrome mrs is a rare, neuromucocutaneous disease which presents as. Indian journal of dermatology, venereology and leprology. Melkerssonrosenthal syndrome mrs is a rare, inherited syndrome that affects the nervous system and skin a neurocutaneous syndrome. The syndrome was first described in 1928 by ernst gustaf melkersson in a 35year female with orofacial edema and facial paralysis. Melkerssonrosenthal syndrome the journal of allergy and. Melkerssonrosenthal syndrome mrs is a rare idiopathic noncaseating granulomatous condition. Mrs is diagnosed based on clinical features and it is rarely possible to observe all the classical triad. Persistent unilateral orbital and eyelid oedema as a.
The classic triad of signs includes recurrent orofacial edema, recurrent facial nerve palsy, and lingua plicata. It was described by guido miescher 18771961, italianborn swiss dermatologist, in 1931. A biopsy from her upper lip showed histological a granulomatous cheilitis, so that we diagnosed a melkerssonrosenthal syndrome mrs, mim 155900. This work is licensed under a creative commons attributionnoncommercialnoderivatives 4. Jan 09, 2021 background melkersson rosenthal syndrome mrs is a rare neuromucocutaneous disorder of unknown cause, clinically characterized by a triad of recurrent facial palsy, orofacial swelling, and fissured tongue. Crohns disease and the melkerssonrosenthal syndrome core. Download free pdf melkersson rosenthal syndrome and cheilitis granulomatosa. It is frequently seen in females in their second and third decades of life. Pdf melkersson rosenthal syndrome mrs is a rare disorder consisting of a triad of persistent or recurrent orofacial edema, relapsing facial. On extensor surfaces the patient exhibited psoriatic eruptions represented as an erythematous, references scaly inflamed patches and papules. Peripheral facial palsy, melkerssonrosenthal syndrome. Melkerssonrosenthal syndrome and psoriasis journalagent. In the british and american literature, such reports are sparse.
Histopathological confirmation is vital for the diagnosis. Oct 20, 2008 a case report is recorded of a female aged 46 years presenting the features of melkersson s syndrome. The first two features were first reported by melkersson in 1928, and the third, the fissured tongue, was reported by rosenthal 3 years later 2. Presentation of bilateral facial paralysis in melkersson.
Melkersson rosenthal syndrome mrs is characterized by the triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue. In 1931, curt rosenthal completed the classic symptom triad by adding the presence of a scrotal or fissured tongue 1. Mar 27, 2019 melkersson rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips usually the upper lip, and the development of folds and furrows in the tongue. The disease responded poorly to systemic steroids, antihistamines, antibiotics and potassium iodide. Aug 01, 2014 melkerssonrosenthal syndrome mrs is a rare neuromucocutaneous granulomatous disorder of unknown etiology, characterized by the triad of facial palsy, lingua plicata fissured tongue, and orofacial edema. Background cheilitis granulomatosa and melkersson rosenthal syndrome are both rare and benign diseases. Jul 01, 1987 leukemic macrochelitis associated with hairy cell leukemia and the melkersson rosenthal syndrome j am acad dermatol, 14 1986, pp. The european literature contains abundant reports referable to the melkersson rosenthal syndrome. At age 4 years, she had been diagnosed with melkersson rosenthal syndrome. Oral surgery, oral medicine, and oral pathology, 1982. Dublin, ireland department of pathology, royal college op surgeons in ireland, and department of periodontics, dublin dental hospital t jlhe ja. Melkersson rosenthal syndrome is a rare disorder and should be considered in the differential diagnosis of labial swelling and facial palsy.
Melkersson rosenthal syndrome mrs is a rare disorder described for the first time in 1929 by ernst gustaf melkersson as peripheral facial paralysis and edema in the lips. To study characteristics of melkersson rosenthal syndrome mrs patients with facial palsy fp and differences in patients treated at the departments of otorhinolaryngology and dermatology. The melkersson rosenthal syndrome is an uncommon condition of uncertain pathogenesis and cause. Pdf orofacial manifestations of melkerssonrosenthal. Furthermore, because of their unknown aetiology, treatment is difficult, and evaluation of response is hampered by the natural tendency to spontaneous resolution and recurrence. Leukemic macrochelitis associated with hairy cell leukemia and the melkersson rosenthal syndrome j am acad dermatol, 14 1986, pp. Cranial magnetic resonance imaging mri showed a left dorsal midbrain lesion. A clinicopathological study of thirtythree patients with special reference to their oral lesions. Melkersson rosenthal syndrome is a rare condition, classically associated with a triad of facial andor lip edema, fissured tongue, and relapsing facial palsy.
On examination there was edema of the lower lip figure 1 with fissuring of the tongue and left side lower motor neuron facial palsy figure 2. It is rarely described in otorhinolaryngologyrelated journals, although facial palsy, lipswelling, and lingua plicata, are its most common presenting features. Melkerssonrosenthal syndrome delay in the diagnosis of an. After recurrent attacks ranging from days to years in between, swelling may. Age at onset varies from early childhood to late adulthood and diagnosis is based mainly on clinical detection of a triad of symptoms, such as orofacial swelling, relapsing facial palsy and fissured tongue 1,2,3,4. Melkerssonrosenthal syndrome misdiagnosed as recurrent bell. The melkersson rosenthal syndrome is a rare entity. Melkersson rosenthal syndrome and cheilitis granulomatosa. The patient, whose medical history included melkersson rosenthal syndrome, had first been admitted for orofacial edema and facial paralysis four years ago and had recovered when treated with steroid and antihistamine therapy. The melkerssonrosenthal syndrome american academy of.
After being stable with facial diplegia and swelling for 5 years, she acutely presented with. Pdf on nov 1, 2014, soaham dilip desai and others published melkersson rosenthal syndrome find, read and cite all the research you need on researchgate. Pdf melkerssonrosenthal syndrome mrs is a rare disorder consisting of a triad of persistent or recurrent orofacial edema, relapsing facial. The melkersson rosenthal syndrome is a rare disorder of unknown etiology characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The melkerssonrosenthal syndrome jama otolaryngology. The revision of medline from 1966 to 2003 did not report any association between multiple sclerosis ms and melkersson rosenthal syndrome mrs. Melkerssonrosenthal syndrome jama otolaryngologyhead. Presentationofbilateralfacialparalysisin melkersson. Melkerssonrosenthal syndrome mrs is a rare disease characterized by. Melkerssonrosenthal syndrome is a rare form of hereditary angioedema characterised by a triad of symptoms of which incomplete oligo or monosymptomatic forms have been described, frequently. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Activated mast cells also play a part in the pathogenesis of. We present a 32year old woman with a 9year history of upper facial swelling.
Hereditary melkerssonrosenthal syndrome and multiple. Management strategies of melkerssonrosenthal syndrome. Treatment of mieschers cheilitis granulomatosa in melkersson. Melkerssonrosenthal syndrome and orofacial granulomatosis.
Melkersson rosenthal syndrome is a rare neuromucocutaneous disease with a. This is particularly true of disorders of the lips because of the possibility of subsequent malignant change. Melkerssonrosenthal syndrome padua research archive unipd. Treatment failure with both drugs finally suggested a melkersson rosenthal syndrome, which was confirmed by histologic findings of non. The melkerssonrosenthal syndrome is an unusual condition which, except for a few isolated reports in otolaryngologic journals, is rarely described in american medical literature. It comprises a triad consisting of recurrent facial paralysis, intermittent facial edema which subsequently becomes permanent, and lingua plicata. Miescher syndrome appears to be an incomplete form of melkersson rosenthal syndrome in 28% of the patients.
The melkerssonrosenthal syndrome is an uncommon condition of uncertain. The syndromes pathophysiology is unclear and the treatment is challenging. Reevaluation in our dermatology clinic confirmed a diagnosis of morbihan disease. A rare cause of recurrent facial palsy a case report. Melkersson rosenthal s syndrome in four generations.
Ziem pe, pfrommer c, goerdt s, orfanos ce, blumepeytavi u. Melkerssonrosenthal syndrome associated with parvovirus b19. Isolated eyelid edema in melkerssonrosenthal syndrome. Clinical picture of mrs was studied from patient charts at two departments. Melkerssonrosenthal syndrome genetic and rare diseases. Melkersson rosenthal syndrome mrs, a rare disorder, may present with a triad of recurrent symptoms. Abstract cheilitis granulomatosa is the most frequent dermatological sign in the melkersson rosenthal syndrome. Cheilitis granulomatosa is considered an incomplete expression of melkersson rosenthal syndrome 1, 2.
Melkerssonrosenthal syndrome revisited as a misdiagnosed. Melkerssonrosenthal syndrome the journal of laryngology. Jan 15, 2018 melkersson rosenthal syndrome mrs is a rare, neuromucocutaneous disease of unknown etiology. May 15, 2006 we report an unusual case of melkersson rosenthal syndrome presenting as diffuse facial swelling with facial, glossopharyngeal and vagus nerve palsies. Histopathological examination of the disease has demonstrated areas of inflammation involving mast cells. The etiology of cheilitis granulomatosa is unknown, but some cases have. Improvement of cheilitis granulomatosa after dental treatment. Melkerrsonrosenthal syndrome, a rare case report of. A number of cheilitides have been welldocumented for many years, but in most cases the. Melkerssonrosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips usually the upper lip. Granulomatous cheilitis evolving into melkerssonrosenthal syndrome with. The melkerssonrosenthal syndrome mrs is a rare condition characterized by the triad of familial relapsing peripheral facial palsy, facial edema, and lingua plicata. Pdf melkerssonrosenthal syndrome associated with psoriasis. Peripheral facial palsy in the setting of melkerssonrosenthal.
Melkerssonrosenthal syndrome mrs is a rare neuromucocutaneous condition of unknown aetiology, clinically. This classical triad however is not always present in mrs. Lygidakis c, tsakanikas c, ilias a, vassilopoulos d. Pdf on may 7, 20, ruozhuo liu and others published melkerssonrosenthal syndrome. Melkersson rosenthal syndrome mrs is a rare neuromucocutaneous granulomatous disorder classically defined by the triad. The medical files, treatment charts, and radiological and histopathological records of.
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