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Facial erythromelalgia: A rare entity to consider in the differential diagnosis of connective tissue diseases
J AM ACAD DERMATOL
e250 Letters
DECEMBER 2014
2. Redboard KP, Shearer DA, Gloster H, Younger B, Connelly BL, Kindel SE, et al. Atypical Mycobacterium furunculosis occurring after pedicures. J Am Acad Dermatol 2006;54:520-4. 3. Stout JE, Gadkowski B, Rath S, Alspaugh JA, Miller MB, Cox GM. Pedicure-associated rapidly growing mycobacterial infection: an endemic disease. Clin Infect Dis 2011;53:787-92. 4. Sniezek PJ, Graham BS, Busch HB, Lederman ER, Lim ML, Poggemyer K, et al. Rapidly growing mycobacterial infections after pedicures. Arch Dermatol 2003;139:629-34. 5. Winthrop KL, Albridge K, South D, Albrecht P, Abrams M, Samuel MC, et al. The clinical management and outcome of nail salon-acquired Mycobacterium skin infection. Clin Infect Dis 2004;38:38-44. http://dx.doi.org/10.1016/j.jaad.2014.08.012
Facial erythromelalgia: A rare entity to consider in the differential diagnosis of connective tissue diseases
Fig 1. Facial erythromelalgia mimicking connective tissue disease. Biopsy showed vacuolar interface alteration (arrows), perivascular lymphocytic inflammation, and marked vascular congestion (right). Mucin deposition was also evident in the mid to deep dermis (not shown). (Hematoxylin and eosin; original magnification 3400.)
To the Editor: A 53-year-old man presented to an outside dermatologist with an erythematous facial eruption of 4 years’ duration. The eruption was associated with burning and swelling, which the patient reported worsened with sun exposure. These symptoms were debilitating, preventing the patient from working and maintaining daily activities. Initially, the eruption was thought to be rosacea and actinic damage; however, it was unresponsive to standard therapies. Given the refractory nature of the facial erythema and reported photosensitivity, a diagnosis of connective tissue disease (CTD) was considered. Antinuclear, anti-Ro/SSA, and anti-La/SSB antibodies were negative; however, skin biopsy revealed vacuolar interface alteration with perivascular and periadnexal lymphoid infiltration and mucin deposition (Fig 1). A diagnosis of CTD was made, and treatment with hydroxychloroquine and systemic corticosteroids was initiated. However, the patient had minimal clinical response, resulting in subsequent referral to our CTD clinic for management. On our initial examination, the patient had prominent full facial and auricular erythema and edema, as well as erosions of the bilateral helices and a violaceous appearance of his earlobes (Fig 2, A). Despite the biopsy findings, clinical exam did not support a diagnosis of CTD. Instead, facial erythromelalgia was suspected. Upon further questioning, the patient reported skin burning not only with sun exposure, but also with heat exposure. Furthermore, he reported attempting cooling measures, such as the frequent use of ice packs, to relieve his symptoms. With these additional details, a clinical diagnosis of facial and auricular erythromelalgia was established. Further workup excluded potential causes of secondary erythromelalgia. Given that
erythromelalgia is thought to involve both small fiber neuropathy as well as vasculopathy, we initiated therapy with aspirin, pentoxifylline, and gabapentin.1 Subsequently, nifedipine was added to this treatment regimen. At 5 months’ follow-up, the patient reported 80% improvement (Fig 2, B) and was able to return to work and enjoy normal daily activities. Erythromelalgia is a rare condition characterized by episodic erythema, swelling, warmth, and burning, which can become persistent over time. Although it primarily occurs on the extremities, it may also manifest on the ears and face. Heat exposure triggers episodes, and cooling can alleviate symptoms.2 Erythromelalgia can cause significant morbidity and mortality, with suicide being a notable cause of death, making timely recognition and initiation of therapy essential.3 There is no diagnostic test for erythromelalgia; therefore, a high level of clinical suspicion, along with a detailed history and physical exam, is required to establish the diagnosis. Although biopsy findings are often nonspecific, there has been 1 reported case of histopathologic findings of CTD in a patient with erythromelalgia involving the hands.4 This case highlights a rare condition, which can be mistaken for CTD, particularly when the patient presents with facial erythema, reports photosensitivity, or has skin biopsy findings that support CTD. To our knowledge, we report the first case of facial erythromelalgia with biopsy findings demonstrating vacuolar interface dermatitis and mucin deposition. This case underscores the need for physicians who follow patients with CTD to be aware of the clinical presentation of facial erythromelalgia.
J AM ACAD DERMATOL VOLUME 71, NUMBER 6
Letters e251
Fig 2. A, Facial erythromelalgia before therapy. There is prominent full facial erythema and edema, which may mimic the facial erythema seen in connective tissue diseases. B, Facial erythromelalgia after treatment. Improvement in erythema and edema 5 months following initiation of therapy with aspirin, pentoxifylline, gabapentin, and, subsequently, nifedipine.
Mital Patel, MD,a Alisa N. Femia, MD,a A. Brooke Eastham, MD,c Janice Lin, MD,a Alvaro Laga Canales, MD, MMSc,b and Ruth Ann Vleugels, MD, MPHa Department of Dermatology a and Department of Pathology,b Brigham and Women’s Hospital and Harvard Medical School; Harvard Combined Dermatology Residency Program,c Boston, Massachusetts Dr Vleugels’ career has been supported by a Medical Dermatology Career Development Award from the Dermatology Foundation. Conflicts of interest: None declared. Correspondence to: Ruth Ann Vleugels, MD, MPH, Director, Autoimmune Skin Disease Program, Department of Dermatology, Brigham and Women’s Hospital, 221 Longwood Ave, Boston, MA 02115 E-mail: [email protected] REFERENCES 1. Davis MD, Sandroni P, Rooke TW, Low PA. Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in erythromelalgia. Arch Dermatol 2003;139:1337-43. 2. Davis MD, O’Fallon WN, Rogers RS III, Rooke TW. Natural history of erythromelalgia. Presentation and outcome in 168 patients. Arch Dermatol 2000;136:330-6. 3. Cook-Norris RH, Tollefson MM, Cruz-Inigo AE, Sandroni P, Davis MD, Davis DM. Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. J Am Acad Dermatol 2012;66:416-23. 4. Bakkour W, Motta L, Stewart E. A case of secondary erythromelalgia with unusual histological findings. Am J Dermatopathol 2013;35:489-90. http://dx.doi.org/10.1016/j.jaad.2014.08.040
Painful plantar nodules: A specific manifestation of cutaneous macroglobulinosis To the Editor: In December 2013, a 70-year-old man came to our service for nodules covered by a thick hyperkeratotic layer on the soles of his feet. The lesions were extremely painful to pressure, to the extent of limiting his daily activities (Fig 1). They had appeared about 2 years earlier and were treated as viral warts with keratolytic agents, without success. The patient’s history showed that he had been followed by the hematology service for 15 years with periodic clinical evaluations and no therapy for a diagnosis of Waldenstr€ om macroglobulinemia (WM). The most recent laboratory studies were unremarkable with no detectable anti-myelinassociated glycoprotein (anti-MAG) or cryoglobulin. Serum immunofixation studies revealed the presence of an IgM-kappa monoclonal protein of 22.9 g/L (0.4-2.5 g/L); urine analysis identified Bence-Jones (IgM-kappa type) proteinuria. The patient was otherwise in good health. On the basis of clinical and laboratory findings, hematologists recommended no therapy. A biopsy of 1 of the plantar nodules showed hyperplastic and hyperkeratotic epidermis, and moderate perivascular lymphohistiocytic inflammation with rare plasma cells. In the dermis and in the intravascular space there was deposition of an amorphous, homogeneous, intensely periodic acid-Schiff positive and Congo red negative material. The biopsy specimen was IgM positive when immunohistochemical stains were used (Fig 2). Based on the clinical course, histology, and anamnestic data, we considered a diagnosis of
e250 Letters
DECEMBER 2014
2. Redboard KP, Shearer DA, Gloster H, Younger B, Connelly BL, Kindel SE, et al. Atypical Mycobacterium furunculosis occurring after pedicures. J Am Acad Dermatol 2006;54:520-4. 3. Stout JE, Gadkowski B, Rath S, Alspaugh JA, Miller MB, Cox GM. Pedicure-associated rapidly growing mycobacterial infection: an endemic disease. Clin Infect Dis 2011;53:787-92. 4. Sniezek PJ, Graham BS, Busch HB, Lederman ER, Lim ML, Poggemyer K, et al. Rapidly growing mycobacterial infections after pedicures. Arch Dermatol 2003;139:629-34. 5. Winthrop KL, Albridge K, South D, Albrecht P, Abrams M, Samuel MC, et al. The clinical management and outcome of nail salon-acquired Mycobacterium skin infection. Clin Infect Dis 2004;38:38-44. http://dx.doi.org/10.1016/j.jaad.2014.08.012
Facial erythromelalgia: A rare entity to consider in the differential diagnosis of connective tissue diseases
Fig 1. Facial erythromelalgia mimicking connective tissue disease. Biopsy showed vacuolar interface alteration (arrows), perivascular lymphocytic inflammation, and marked vascular congestion (right). Mucin deposition was also evident in the mid to deep dermis (not shown). (Hematoxylin and eosin; original magnification 3400.)
To the Editor: A 53-year-old man presented to an outside dermatologist with an erythematous facial eruption of 4 years’ duration. The eruption was associated with burning and swelling, which the patient reported worsened with sun exposure. These symptoms were debilitating, preventing the patient from working and maintaining daily activities. Initially, the eruption was thought to be rosacea and actinic damage; however, it was unresponsive to standard therapies. Given the refractory nature of the facial erythema and reported photosensitivity, a diagnosis of connective tissue disease (CTD) was considered. Antinuclear, anti-Ro/SSA, and anti-La/SSB antibodies were negative; however, skin biopsy revealed vacuolar interface alteration with perivascular and periadnexal lymphoid infiltration and mucin deposition (Fig 1). A diagnosis of CTD was made, and treatment with hydroxychloroquine and systemic corticosteroids was initiated. However, the patient had minimal clinical response, resulting in subsequent referral to our CTD clinic for management. On our initial examination, the patient had prominent full facial and auricular erythema and edema, as well as erosions of the bilateral helices and a violaceous appearance of his earlobes (Fig 2, A). Despite the biopsy findings, clinical exam did not support a diagnosis of CTD. Instead, facial erythromelalgia was suspected. Upon further questioning, the patient reported skin burning not only with sun exposure, but also with heat exposure. Furthermore, he reported attempting cooling measures, such as the frequent use of ice packs, to relieve his symptoms. With these additional details, a clinical diagnosis of facial and auricular erythromelalgia was established. Further workup excluded potential causes of secondary erythromelalgia. Given that
erythromelalgia is thought to involve both small fiber neuropathy as well as vasculopathy, we initiated therapy with aspirin, pentoxifylline, and gabapentin.1 Subsequently, nifedipine was added to this treatment regimen. At 5 months’ follow-up, the patient reported 80% improvement (Fig 2, B) and was able to return to work and enjoy normal daily activities. Erythromelalgia is a rare condition characterized by episodic erythema, swelling, warmth, and burning, which can become persistent over time. Although it primarily occurs on the extremities, it may also manifest on the ears and face. Heat exposure triggers episodes, and cooling can alleviate symptoms.2 Erythromelalgia can cause significant morbidity and mortality, with suicide being a notable cause of death, making timely recognition and initiation of therapy essential.3 There is no diagnostic test for erythromelalgia; therefore, a high level of clinical suspicion, along with a detailed history and physical exam, is required to establish the diagnosis. Although biopsy findings are often nonspecific, there has been 1 reported case of histopathologic findings of CTD in a patient with erythromelalgia involving the hands.4 This case highlights a rare condition, which can be mistaken for CTD, particularly when the patient presents with facial erythema, reports photosensitivity, or has skin biopsy findings that support CTD. To our knowledge, we report the first case of facial erythromelalgia with biopsy findings demonstrating vacuolar interface dermatitis and mucin deposition. This case underscores the need for physicians who follow patients with CTD to be aware of the clinical presentation of facial erythromelalgia.
J AM ACAD DERMATOL VOLUME 71, NUMBER 6
Letters e251
Fig 2. A, Facial erythromelalgia before therapy. There is prominent full facial erythema and edema, which may mimic the facial erythema seen in connective tissue diseases. B, Facial erythromelalgia after treatment. Improvement in erythema and edema 5 months following initiation of therapy with aspirin, pentoxifylline, gabapentin, and, subsequently, nifedipine.
Mital Patel, MD,a Alisa N. Femia, MD,a A. Brooke Eastham, MD,c Janice Lin, MD,a Alvaro Laga Canales, MD, MMSc,b and Ruth Ann Vleugels, MD, MPHa Department of Dermatology a and Department of Pathology,b Brigham and Women’s Hospital and Harvard Medical School; Harvard Combined Dermatology Residency Program,c Boston, Massachusetts Dr Vleugels’ career has been supported by a Medical Dermatology Career Development Award from the Dermatology Foundation. Conflicts of interest: None declared. Correspondence to: Ruth Ann Vleugels, MD, MPH, Director, Autoimmune Skin Disease Program, Department of Dermatology, Brigham and Women’s Hospital, 221 Longwood Ave, Boston, MA 02115 E-mail: [email protected] REFERENCES 1. Davis MD, Sandroni P, Rooke TW, Low PA. Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in erythromelalgia. Arch Dermatol 2003;139:1337-43. 2. Davis MD, O’Fallon WN, Rogers RS III, Rooke TW. Natural history of erythromelalgia. Presentation and outcome in 168 patients. Arch Dermatol 2000;136:330-6. 3. Cook-Norris RH, Tollefson MM, Cruz-Inigo AE, Sandroni P, Davis MD, Davis DM. Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. J Am Acad Dermatol 2012;66:416-23. 4. Bakkour W, Motta L, Stewart E. A case of secondary erythromelalgia with unusual histological findings. Am J Dermatopathol 2013;35:489-90. http://dx.doi.org/10.1016/j.jaad.2014.08.040
Painful plantar nodules: A specific manifestation of cutaneous macroglobulinosis To the Editor: In December 2013, a 70-year-old man came to our service for nodules covered by a thick hyperkeratotic layer on the soles of his feet. The lesions were extremely painful to pressure, to the extent of limiting his daily activities (Fig 1). They had appeared about 2 years earlier and were treated as viral warts with keratolytic agents, without success. The patient’s history showed that he had been followed by the hematology service for 15 years with periodic clinical evaluations and no therapy for a diagnosis of Waldenstr€ om macroglobulinemia (WM). The most recent laboratory studies were unremarkable with no detectable anti-myelinassociated glycoprotein (anti-MAG) or cryoglobulin. Serum immunofixation studies revealed the presence of an IgM-kappa monoclonal protein of 22.9 g/L (0.4-2.5 g/L); urine analysis identified Bence-Jones (IgM-kappa type) proteinuria. The patient was otherwise in good health. On the basis of clinical and laboratory findings, hematologists recommended no therapy. A biopsy of 1 of the plantar nodules showed hyperplastic and hyperkeratotic epidermis, and moderate perivascular lymphohistiocytic inflammation with rare plasma cells. In the dermis and in the intravascular space there was deposition of an amorphous, homogeneous, intensely periodic acid-Schiff positive and Congo red negative material. The biopsy specimen was IgM positive when immunohistochemical stains were used (Fig 2). Based on the clinical course, histology, and anamnestic data, we considered a diagnosis of