Figure 1 - available via license: Creative Commons Attribution 3.0 Unported
Content may be subject to copyright.
A photograph of the right ear showing mild erythema.
Source publication
Erythromelalgia is a rare disorder that typically affects the skin of the feet, hands, or both, that is characterized by red skin, warmth, and a burning quality of pain. It usually affects both sides of the body, but may manifest unilaterally. Cooling of the affected areas usually results in symptom relief. We report a case of a young boy with eryt...
Context in source publication
Context 1
... Figure 1). The ear exam was completely normal otherwise showing normal tympanic membranes with no evidence of any middle ear fluids. The external auditory canal was also normal. The rest of the head and neck exam, including examination of the cranial nerves and neurologic screen, was unremarkable. Following the initial consultation, a diagnosis was not provided, and a referral was made to the pediatric derma- tology clinic to investigate further and to assess for any potential cutaneous causes. After this referral, a diagnosis of erythromelalgia of the ears was made. Suggestions were made to try topical agents such as pramocaine hydrochloride or pramoxine to help the burning sensation, given their anesthetic or menthol components. Blood work, including inflammatory markers, was within normal limits. Choles- terol and liver enzymes were also normal. The episodes gradually started to occur on a less frequent basis and the severity was also reduced. At his 16-month follow-up visit, the episodes had resolved. Isolated auricular erythromelalgia is a very rare disorder, especially in the pediatric population. A recent series reviewed 32 cases of generalized pediatric erythromelalgia, which was gathered over a 37-year period [5]. Of these 32 cases, 22 had been girls and 10 had been boys, with a range from 5 to 18 years of age. Symptoms seemed to be intermittent in 26 of these patients and constant in the other eight. Like in adults with this condition, extremities were most commonly a ff ected: the feet were involved in all 32 cases and hands were involved in 47% of the patients. Interestingly, the ears were a ff ected in only two of these patients. The mean age at diagnosis was 13.8 years, taking an average of 4.6 years to be properly diagnosed [5]. Overall, only three cases of isolated erythromelalgia involving only the ears were identified in the literature [1, 2, 6], indicating the unusual nature of the present case. Erythromelalgia is a diagnosis of exclusion and no spe- cific investigations have been recommended [1–4, 6]. Non- invasive vascular studies (e.g., laser Doppler flow) and neu- rophysiologic tests with autonomic reflex screening may be performed in some cases [5], but it is unclear how necessary they are in regards to the diagnosis and management of this disease. Due to the paucity of erythromelalgia, the definitive diagnosis may be delayed in some cases (see below). Other clinical entities to consider are recurrent soft-tissue infections, reflex sympathetic dystrophy, peripheral neuropathy, Raynaud phenomenon, vasculitic diseases, and Fabry disease [5]. As mentioned above, the diagnosis of erythromelalgia is mainly clinical. Histopathological studies from skin biopsies of individuals with primary erythromelalgia showed relatively subtle and nonspecific findings, mostly pertaining to changes in and around blood vessels [7, 8]. However, no vascular thrombi were noted in arteries and arterioles, as has been reported in biopsies from patients with erythromelalgia secondary to myeloproliferative disease [8]. The marked redness of the skin is likely caused by inflammation, consistent with the histological finding of superficial and deep perivascular inflammation with lymphocytes and endothelial cells [1]. On examination of nerve fiber density from these specimens, it was found that the epidermal nerve fiber count was below the 5th percentile for each of the sites in 81% of the cases [8]. Reduced nerve fiber density was also found around the dilated capillary loops in 75% of the patient specimens studied [8]. These findings are consistent with small fiber neuropathy, which is likely the cause of the painful burning sensation experienced by these patients. There is still much to learn about erythromelalgia. The symptoms and onset can vary greatly from person to person, from mild to severe, to gradual, or acute. There does not seem to be a universally e ff ective treatment or therapeutic approach that works for everybody, which has been docu- mented in many studies [1, 3–5]. It appears that most cases of erythromelalgia in children are not inherited, and thus are idiopathic [5]. In the past, depending on disease severity and location, this condition could become quite disabling and was considered more of a chronic disease. However, newer research has shown that erythromelalgia is a reversible condition in some patients [3]. One report described a case of a 58-year-old man who after eight years finally found a medication that resulted in sustained relief of his symptoms [2]. Specifically, mexiletine, a medication used in neuropathic pain, which works by decreasing the frequency and stability of neuron firing involved in nociceptive pain processing, was successful in symptom alleviation for this adult patient [2]. In the literature around pediatric erythromelalgia, the treatment results are inconclusive due to the low incidence and a large number of individuals being lost to long-term followup. Yet, there have been some reports of spontaneous resolution or gradual reduction of the frequency and ...
Citations
... 10 In a pediatric case report of isolated auricular erythromelalgia, topical pramoxine was the recommended treatment. 11 Capsaicin is a compound that has been used to treat postherpetic neuralgia and painful diabetic peripheral neuropathy, as well as erythromelalgia. 12 It works by enhancing the release, and inhibiting and preventing the reaccumulation of substance P and calcitonin gene-related peptide, neuropeptides involved in modulating pain perception. ...
... 14 Pramoxine and menthol can be combined in a topical formulation, and this treatment has been described to effective in a case report of pediatric erythromelalgia. 11 Gabapentin is an anti-epileptic drug that has been administered orally for several years. More recently, it has been used as a topical treatment for neuropathy. ...
Erythromelalgia is a rare neurovascular disease that causes episodes of pain, redness, and warmth in the extremities, and can be debilitating. Currently, there is no universally effective treatment for erythromelalgia. As the precise etiology of erythromelalgia remains obscure, presently available treatments are aimed at alleviating erythromelalgia’s wide‐ranging symptoms. In general, topical therapies for erythromelalgia are preferred for their more limited side effects and for those with contraindications to systemic therapies. This review will summarize the current topical therapies available to treat erythromelalgia and discuss emerging therapies based on our growing understanding of erythromelalgia pathophysiology.
... Erythromelalgia is a clinical syndrome characterized by episodic erythema, warmth, and burning pain, typically located on an extremity [4,5]. Symptoms usually present bilaterally and can range from mild to severe. ...
... Symptoms are often triggered by warm temperatures or exercise and can be relieved by cool temperature therapy. Relief in pain with cold water is seen in most cases of erythromelalgia, which can be considered pathognomonic [5]. ...
... This information is obtained from the history and/or the physical exam, and there is no specific recommended diagnostic testing [4]. It is also predominantly a diagnosis of exclusion as peripheral neuropathy, Raynaud's phenomenon, vasculitis, Fabry disease, reflex sympathetic dystrophy, and recurrent soft-tissue infections should also be considered [5]. If the erythromelalgia occurs within the pinna, another diagnosis to consider is red ear syndrome (RES), which has a clinical presentation similar to erythromelalgia. ...
Erythromelalgia is a rare clinical syndrome involving erythema, warmth, and burning pain in one or more of the extremities. Primary erythromelalgia is idiopathic and can begin during childhood or adulthood. In the pediatric population, auricular erythromelalgia is rare, and its etiology is not well understood. We present a case of a four-year-old boy who presented with recurrent episodes of red, painful pinnae. We also discuss previous literature on red ear syndrome and erythromelalgia.
... The frequency and duration of attacks vary widely. RES has been described in more than 100 cases [3], which include 27 pediatric cases [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Only two large pediatric case series are reported [21,22]. ...
... Almost all the pediatric cases that are reported in the literature are idiopathic or are associated with primary headaches; only two are possible secondary RES cases that are related to vasculitis and the ataxia telangiectasia mutated (ATM) gene, with an etiopathogenetic mechanism that remains obscure A. D'Amico et al. [4,5]. Actually 27 pediatric RES cases are reported in separate studies [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] (all pediatric RES cases are summarized in Table 1) and there are reports of two pediatric RES series (of 40 and 43 children) [21,22]. Surprisingly, these reports show that the ratio of boys to girls who are diagnosed with RES is about 3:1, and there is no relationship with age. ...
Background
Red ear syndrome (RES) is a neurological syndrome that is characterised by attacks of redness and pain that is localized in the earlobe, accompanied by a burning sensation, swelling or otalgia. The exact pathophysiology of RES is not known. Several pediatric cases have been described. They show an extreme variability in clinical presentation and therapeutic response, and therefore there are numerous difficulties in the diagnostic-therapeutic approach and in the comprehension of the physiopathology. The goal of this report is to present three clinical cases of red ear syndrome in children. These cases show various characteristics that can give useful indications regarding the differential diagnosis and the pathogenetic mechanisms that are involved, particularly when they are compared with cases published in the literature.
Case-reports
We report three pediatric RES cases: 1) a boy whose condition offered a a typical example of the association that occurs between migraine and RES. 2) a girl with idiopathic RES. 3) a child who suffered RES attacks that showed many similarities with trigeminal autonomic cephalalgias.
Conclusion
Our clinical series shows the different ways in which RES can be expressed and they support the reported scientific literature. We suggest that the different forms of RES have a common final autonomic pathogenetic mechanism that is activated by parasympathetic hyperactivity and sympathetic inhibition. The different temporal characteristics, frequency, etc. may depend on the activation of distinct physiopathological modules that are related to the pain circuits, as suggested by the modular theory which describes that groups of neurons are defined as a module, where each module is responsible for a symptom and the individual’s headache is defined by the activated modules.
... In 1996 [2], Lance reported a case series of 12 patients affected by RES, distinguishing idiopathic from secondary forms, and attributing the second ones to a wide range of disorders, including cervical arachnoiditis or spondylosis, traction injury of upper cervical roots (UCR), atypical glossopharyngeal or trigeminal neuralgias, temporomandibular joint (TMJ) dysfunction, or thalamic syndrome. After Lance's first description, more than 100 new cases have been reported in the literature 24••, [25][26][27][28][29][30][31][32][33][34][35][36][37]. Although the two idiopathic cases suffered also from headache [2], Lance did not recognize any clinical relationship between these disorders. ...
... The prevalence and incidence of RES are unknown, with a huge range of age of symptom onset varying between 4 and 92 years 24••, [25][26][27][28][29][30][31][32][33][34][35][36][37]. Though several authors [16,30,38], because of the existing few clinical reports (mainly single case report and case series with small number of patients), consider this syndrome a rare condition, in pediatric migrainous population the prevalence of RES during migrainous attacks was about 24 % [24••]. ...
... This is particularly true for idiopathic RES and RES associated with primary headaches in order to better understand the meaning of different reported clinical features. [25][26][27][28][29][30][31][32][33][34][35][36] also secondary RES has been reported [2, 8, 12-16, 20, 21, 23]. We can distinguish between primary RES, those described like isolate attacks (they have often a history of migraine) and those described during attacks of migraine (majority) and TACs (see Table 1). ...
The Red ear syndrome (RES) is an intriguing syndrome originally described for the first time nearly 20 years ago. RES is characterized by unilateral/bilateral episodes of pain and burning sensation of the ear, associated with ipsilateral erythema. RES episodes are indeed isolated in some patients, but they can occur in association with primary headaches, including in particular migraine in the developmental age. Although the underlying pathophysiological mechanisms are still uncertain, in the recent years the described comorbidities have aroused increasing interest because of possible clinical implications. Moreover, RES seems to be more often associated with clinical features of migraine partially provoked by the involvement of the parasympathetic system. This clinical association has shed new light on the pathophysiology of RES, supporting the hypothesis of a shared pathophysiological background, for example, through the activation of the trigeminal autonomic reflex. Current therapies of RES will be also discussed. Finally, we will resume the more controversial aspects of this relatively new and probably underestimated neurological syndrome.
The management of erythromelalgia is challenging and requires multidisciplinary effort. Patient education is crucial as unsafe self-administered cooling techniques can lead to significant morbidity, including acral necrosis, infection, and amputation. The goal of management is pain control, reduction of flare frequency, and prevention of complications. This text is focused on the management of erythromelalgia and several other incompletely understood and underrecognized neurovascular disorders such as red scrotum syndrome, red ear syndrome, facial flushing, and complex regional pain syndrome. Differential diagnoses.
Introduction:
Red Ear Syndrome (RES) is a condition often considered to be a localized form of erythromelalgia. It can be related to structural cervical defects or idiopathic. RES is generally very difficult to treat.
Discussion:
A 57-year-old male presented to the dermatology clinic complaining of a 4-month history of intermittent redness and severe burning of bilateral ears. On examination, the patient exhibited edematous erythema and tenderness to palpation affecting the right and left ear and right malar cheek. A skin biopsy revealed mild superficial perivascular lymphocytic infiltrate with hypertrophy of endothelial cells. The patient was found to have a normal lab work-up including complete blood count, metabolic panel, erythrocyte sedimentation rate, anti-nuclear antibody and type II collagen antibody. A diagnosis of Red Ear Syndrome was made. After failing multiple medications over several months, the patient was started on aspirin and paroxetine which was gradually titrated until he was completely asymptomatic. To date, there is only one other case presentation illustrating the effectiveness of this treatment regimen.
Conclusion:
There are a limited number of cases describing idiopathic RES with inconsistent results in treatment. With a relatively small number of cases reported, further research is needed into the pathophysiology of RES along with the dual therapy of aspirin and paroxetine in patients that suffer from both primary and secondary RES.
Red ear syndrome has been reported in the literature to have similarities to erythromelalgia with auricular involvement; however, the distinction between the two is controversial. Red ear syndrome has previously been classified as idiopathic (primary) or secondary, with headaches being the most common association in the idiopathic or primary form. We present a case of pediatric red ear syndrome with hand and foot involvement that we believe represents auricular erythromelalgia. In this report, we propose a classification system to unify the diagnoses of red ear syndrome and erythromelalgia and review the literature on pediatric cases of red ear syndrome.
Erythermalgia is a peripheral vascular disease triggered by exposure to heat. The primary infantile form is rare. No cases have been described in infants. We report a case in a 6-month-old child revealed by crying bouts associated with erythema of the lower limbs. A 6-month-old child was brought in for consultation for daily crying bouts, occurring six times a day, associated with erythema of the lower limbs. Blood count, abdominal ultrasound and endoscopy were normal, excluding gastroesophageal reflux and intussusception. Attacks disappeared during winter but recurred at high temperatures. The diagnosis was primary infant erythemalgia. Treatment with analgesics and ice packs was established. Erythermalgia is a rare peripheral vascular disease characterized by paroxysmal pain triggered by heat and relieved by cold. The primary form occurs in childhood but has never been reported in infants. The pathophysiology is based on an alteration of sodium channels inducing neuropathy in small-caliber fibers. Genetic mutations have been found in the SNC9 gene on chromosome 2q, with autosomal dominant transmission. Support of this condition is difficult due to resistance to conventional analgesics. The prognosis is sometimes poor with a significant death rate in the pediatric population
