- Email: [email protected]
A woman with amyloidosis, corneal dystrophy, and pruritic vesicular eruptions
J AM ACAD DERMATOL
e56 Letters
FEBRUARY 2013
have advocated oral triazole antifungals, intralesional antifungals, thermotherapy,5 surgical debulking (without PAS stain), and combinations of the above. Although the cost-effectiveness of Mohs micrographic surgery compared with prolonged oral triazole therapy has yet to be examined, this case report demonstrates an effective approach to debulk localized cutaneous alternariosis using Mohs micrographic surgery with PAS stain on frozen sections and should be considered in appropriately selected patients. Brian Kleker, MD, Justin Endo, MD, Daniel Bennett, MD, and Stephen Snow, MD
Fig 1. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Vesicles and excoriated papules seen on examination.
Department of Dermatology, University of Wisconsin, Madison Presented as a poster at the 2012 Wisconsin Dermatologic Society Meeting, Madison, Wisconsin, April 21, 2012 Funding sources: None. Conflicts of interest: None declared. Correspondence to: Brian Kleker, MD, 1 South Park St, Madison, WI 53715 E-mail: [email protected] REFERENCES 1. Bogle MA, Rabkin MS, Joseph AK. Mohs micrographic surgery for the eradication of phaeohyphomycosis of the hand. Dermatol Surg 2004;30:231-3. 2. Ben-Ami R, Lewis RE, Raad II, Kontoviannis DP. Phaeohyphomycosis in a tertiary care cancer center. Clin infect Dis 2009;48:1033-41. 3. Vennewald I, Wollina U. Cutaneous infections due to opportunistic molds: uncommon presentations. Clin Dermatol 2005;23:565-71. 4. Gilaberte M, Bartralot R, Torres JM, Reus FS, Rodrıguez V, Alomar A, et al. Cutaneous alternariosis in transplant recipients: clinicopathologic review of 9 cases. J Am Acad Dermatol 2005;52:653-9. 5. Torres-Rodriguez JM, Gonzalez MP, Corominas JM, Pujol RM. Successful thermotherapy for a subcutaneous infection due to Alternaria alternata in a renal transplant recipient. Arch Dermatol 2005;141:1171-3. http://dx.doi.org/10.1016/j.jaad.2012.08.027
A woman with amyloidosis, corneal dystrophy, and pruritic vesicular eruptions To the Editor: Lattice corneal dystrophy, gelsolin type, also known as Finnish amyloid syndrome and Meretoja syndrome, is a systemic amyloidosis syndrome rarely described in the dermatology literature. It is an uncommon disorder characterized by lattice corneal dystrophy and systemic amyloidosis. As the disease typically presents with eye findings, the
Fig 2. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Congo red stain, lower extremity biopsy specimen.
ophthalmologist is among the first to give these patients a diagnosis. Diagnosis is made from clinical presentation of lattice dystrophy and a family history consistent with autosomal dominant inheritance. DNA analysis can be performed to locate the point mutation in the gelsolin gene on chromosome 9q32-34. We describe a 73-year-old woman with Finnish amyloid syndrome who also had a 10-year history of recurrent pruritic vesicular lesions on her extremities (Fig 1). Her medical history included cardiac arrhythmia requiring pacemaker, seventh nerve palsy, and lattice corneal dystrophy necessitating recent bilateral corneal transplantation. Family history included amyloidosis and corneal dystrophy in 3 of the patient’s children. The discrete, noninflammatory pruritic papules on her upper and lower extremities would turn into blisters without trauma or rubbing. Bullous pemphigoid antigens, serum protein electrophoresis, and porphyrin profiles revealed negative findings.
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VOLUME 68, NUMBER 2
Fig 3. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Hematoxylin-eosinestained mediumpower view of paucicellular subepidermal blister with superficial and deep perivascular lymphoid infiltrate.
Biopsy specimen of a lower extremity lesion showed amorphous eosinophilic material around eccrine glands and ducts, with deposits in the reticular dermis staining positive for Congo red (Fig 2). A second biopsy specimen demonstrated subepidermal vesicle formation with underlying papillary and mid-dermal perivascular lymphoid infiltrate with eosinophils (Fig 3). A small cuff of amorphous pink material surrounded reticular dermis eccrine glands. Periodic acideSchiff stain showed mild thickening of the vascular basement membrane. Immunofluorescence showed trace granular C3 deposition around papillary dermal vessels. Finnish amyloid syndrome was first described by Finnish ophthalmologist Jouko Meretoja in 1969.1 It typically presents in the late third decade of life with lattice corneal dystrophy followed by systemic amyloidosis, peripheral polyneuropathy, and cranial neuropathy with facial nerve paresis.1 Cranial nerve involvement can cause diminished blink reflex with dry eye syndrome and ectropion.2 Cutaneous findings include generalized cutis laxa, skin fragility with ecchymoses, masklike faces, diffuse hair loss, and dry, pruritic skin.3 Nephrotic syndrome, conduction abnormalities of the heart, and obstructive sleep apnea are among the many systemic symptoms.3 These patients require close follow-up with ophthalmology and evaluation for organ involvement as in systemic amyloidosis.2 Our patient’s clinical presentation, histopathology, and laboratory findings were also suggestive of pseudo-porphyria cutanea tarda (PCT), with perivascular periodic acideSchiffepositive cuffing.
Bullous amyloidosis was also in the differential diagnosis, however initial biopsy specimen showed reticular dermal amyloid deposits. Direct immunofluorescence is generally described as negative for immunoglobulins or complement in bullous systemic or lichen amyloidosis, although isolated cases with positive staining for IgG and C3 along with IgG and light chains have been described in the vessel walls and in the papillary dermis of bullous amyloid cases, respectively.4,5 Pseudo-PCT clinically and histologically mimics PCT but lacks the biochemical porphyrin abnormalities.6 It is classically associated with patients with renal failure undergoing dialysis.3 Medications have also been implicated in pseudo-PCT, including diuretics, nonsteroidal anti-inflammatory drugs, and antibiotics, none of which our patient reported using.7 Anne H. Hanson, DO,a David P. Fivenson, MD,a and Brian Schapiro, MDb Departments of Dermatologya and Dermatopathology,b Saint Joseph Mercy Hospital, Ann Arbor, Michigan Funding sources: None. Conflicts of interest: None declared. Correspondence to: David P. Fivenson, MD, Department of Dermatology, Saint Joseph Mercy Hospital, Reichert Health Center, 5333 McAuley Dr, Suite 5003, Ypsilanti, MI 48197 E-mail: [email protected]
REFERENCES 1. Kiuru-Enari S, Haltia M. Hereditary gelsolin amyloidosise40 years of Meretoja disease [in Finnish]. Duodecim 2010;126: 1162-71. 2. Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL. Heavy-chain amyloidosis in TGFBI-negative and gelsolinnegative atypical lattice corneal dystrophy. Cornea 2011;30: 1163-6. 3. Carrwik C, Stenevi U. Lattice corneal dystrophy, gelsolin type (Meretoja’s syndrome). Acta Ophthalmol 2009;87: 813-9. 4. Matzke TJ, Mann DJ, Weed BR, Weenig RH. Bullous amyloidosis presenting as naproxen-induced photosensitivity. Int J Dermatol 2007;46:284-6. 5. Reddy K, Hoda S, Penstein A, Wasil T, Chen S. Bullous amyloidosis complicated by cellulitis and sepsis: a case report. Arch Dermatol 2011;147:126-7. 6. Breier F, Feldmann R, Pelzl M, Gschnait F. Pseudoporphyria cutanea tarda induced by furosemide in a patient undergoing peritoneal dialysis. Dermatology 1998;197:271-3. 7. Guiotoku MM, Pereira Fde P, Miot HA, Marques ME. Pseudoporphyria induced by dialysis treated with oral N-acetylcysteine. An Bras Dermatol 2011;86:383-5. http://dx.doi.org/10.1016/j.jaad.2012.09.009
e56 Letters
FEBRUARY 2013
have advocated oral triazole antifungals, intralesional antifungals, thermotherapy,5 surgical debulking (without PAS stain), and combinations of the above. Although the cost-effectiveness of Mohs micrographic surgery compared with prolonged oral triazole therapy has yet to be examined, this case report demonstrates an effective approach to debulk localized cutaneous alternariosis using Mohs micrographic surgery with PAS stain on frozen sections and should be considered in appropriately selected patients. Brian Kleker, MD, Justin Endo, MD, Daniel Bennett, MD, and Stephen Snow, MD
Fig 1. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Vesicles and excoriated papules seen on examination.
Department of Dermatology, University of Wisconsin, Madison Presented as a poster at the 2012 Wisconsin Dermatologic Society Meeting, Madison, Wisconsin, April 21, 2012 Funding sources: None. Conflicts of interest: None declared. Correspondence to: Brian Kleker, MD, 1 South Park St, Madison, WI 53715 E-mail: [email protected] REFERENCES 1. Bogle MA, Rabkin MS, Joseph AK. Mohs micrographic surgery for the eradication of phaeohyphomycosis of the hand. Dermatol Surg 2004;30:231-3. 2. Ben-Ami R, Lewis RE, Raad II, Kontoviannis DP. Phaeohyphomycosis in a tertiary care cancer center. Clin infect Dis 2009;48:1033-41. 3. Vennewald I, Wollina U. Cutaneous infections due to opportunistic molds: uncommon presentations. Clin Dermatol 2005;23:565-71. 4. Gilaberte M, Bartralot R, Torres JM, Reus FS, Rodrıguez V, Alomar A, et al. Cutaneous alternariosis in transplant recipients: clinicopathologic review of 9 cases. J Am Acad Dermatol 2005;52:653-9. 5. Torres-Rodriguez JM, Gonzalez MP, Corominas JM, Pujol RM. Successful thermotherapy for a subcutaneous infection due to Alternaria alternata in a renal transplant recipient. Arch Dermatol 2005;141:1171-3. http://dx.doi.org/10.1016/j.jaad.2012.08.027
A woman with amyloidosis, corneal dystrophy, and pruritic vesicular eruptions To the Editor: Lattice corneal dystrophy, gelsolin type, also known as Finnish amyloid syndrome and Meretoja syndrome, is a systemic amyloidosis syndrome rarely described in the dermatology literature. It is an uncommon disorder characterized by lattice corneal dystrophy and systemic amyloidosis. As the disease typically presents with eye findings, the
Fig 2. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Congo red stain, lower extremity biopsy specimen.
ophthalmologist is among the first to give these patients a diagnosis. Diagnosis is made from clinical presentation of lattice dystrophy and a family history consistent with autosomal dominant inheritance. DNA analysis can be performed to locate the point mutation in the gelsolin gene on chromosome 9q32-34. We describe a 73-year-old woman with Finnish amyloid syndrome who also had a 10-year history of recurrent pruritic vesicular lesions on her extremities (Fig 1). Her medical history included cardiac arrhythmia requiring pacemaker, seventh nerve palsy, and lattice corneal dystrophy necessitating recent bilateral corneal transplantation. Family history included amyloidosis and corneal dystrophy in 3 of the patient’s children. The discrete, noninflammatory pruritic papules on her upper and lower extremities would turn into blisters without trauma or rubbing. Bullous pemphigoid antigens, serum protein electrophoresis, and porphyrin profiles revealed negative findings.
J AM ACAD DERMATOL
Letters e57
VOLUME 68, NUMBER 2
Fig 3. Finnish amyloid syndrome with pseudoporphyria cutanea tarda. Hematoxylin-eosinestained mediumpower view of paucicellular subepidermal blister with superficial and deep perivascular lymphoid infiltrate.
Biopsy specimen of a lower extremity lesion showed amorphous eosinophilic material around eccrine glands and ducts, with deposits in the reticular dermis staining positive for Congo red (Fig 2). A second biopsy specimen demonstrated subepidermal vesicle formation with underlying papillary and mid-dermal perivascular lymphoid infiltrate with eosinophils (Fig 3). A small cuff of amorphous pink material surrounded reticular dermis eccrine glands. Periodic acideSchiff stain showed mild thickening of the vascular basement membrane. Immunofluorescence showed trace granular C3 deposition around papillary dermal vessels. Finnish amyloid syndrome was first described by Finnish ophthalmologist Jouko Meretoja in 1969.1 It typically presents in the late third decade of life with lattice corneal dystrophy followed by systemic amyloidosis, peripheral polyneuropathy, and cranial neuropathy with facial nerve paresis.1 Cranial nerve involvement can cause diminished blink reflex with dry eye syndrome and ectropion.2 Cutaneous findings include generalized cutis laxa, skin fragility with ecchymoses, masklike faces, diffuse hair loss, and dry, pruritic skin.3 Nephrotic syndrome, conduction abnormalities of the heart, and obstructive sleep apnea are among the many systemic symptoms.3 These patients require close follow-up with ophthalmology and evaluation for organ involvement as in systemic amyloidosis.2 Our patient’s clinical presentation, histopathology, and laboratory findings were also suggestive of pseudo-porphyria cutanea tarda (PCT), with perivascular periodic acideSchiffepositive cuffing.
Bullous amyloidosis was also in the differential diagnosis, however initial biopsy specimen showed reticular dermal amyloid deposits. Direct immunofluorescence is generally described as negative for immunoglobulins or complement in bullous systemic or lichen amyloidosis, although isolated cases with positive staining for IgG and C3 along with IgG and light chains have been described in the vessel walls and in the papillary dermis of bullous amyloid cases, respectively.4,5 Pseudo-PCT clinically and histologically mimics PCT but lacks the biochemical porphyrin abnormalities.6 It is classically associated with patients with renal failure undergoing dialysis.3 Medications have also been implicated in pseudo-PCT, including diuretics, nonsteroidal anti-inflammatory drugs, and antibiotics, none of which our patient reported using.7 Anne H. Hanson, DO,a David P. Fivenson, MD,a and Brian Schapiro, MDb Departments of Dermatologya and Dermatopathology,b Saint Joseph Mercy Hospital, Ann Arbor, Michigan Funding sources: None. Conflicts of interest: None declared. Correspondence to: David P. Fivenson, MD, Department of Dermatology, Saint Joseph Mercy Hospital, Reichert Health Center, 5333 McAuley Dr, Suite 5003, Ypsilanti, MI 48197 E-mail: [email protected]
REFERENCES 1. Kiuru-Enari S, Haltia M. Hereditary gelsolin amyloidosise40 years of Meretoja disease [in Finnish]. Duodecim 2010;126: 1162-71. 2. Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL. Heavy-chain amyloidosis in TGFBI-negative and gelsolinnegative atypical lattice corneal dystrophy. Cornea 2011;30: 1163-6. 3. Carrwik C, Stenevi U. Lattice corneal dystrophy, gelsolin type (Meretoja’s syndrome). Acta Ophthalmol 2009;87: 813-9. 4. Matzke TJ, Mann DJ, Weed BR, Weenig RH. Bullous amyloidosis presenting as naproxen-induced photosensitivity. Int J Dermatol 2007;46:284-6. 5. Reddy K, Hoda S, Penstein A, Wasil T, Chen S. Bullous amyloidosis complicated by cellulitis and sepsis: a case report. Arch Dermatol 2011;147:126-7. 6. Breier F, Feldmann R, Pelzl M, Gschnait F. Pseudoporphyria cutanea tarda induced by furosemide in a patient undergoing peritoneal dialysis. Dermatology 1998;197:271-3. 7. Guiotoku MM, Pereira Fde P, Miot HA, Marques ME. Pseudoporphyria induced by dialysis treated with oral N-acetylcysteine. An Bras Dermatol 2011;86:383-5. http://dx.doi.org/10.1016/j.jaad.2012.09.009