Ophthal Plast Reconstr Surg, Vol. 30, No. 5, 2014
Case Reports
findings, a MALT lymphoma needs to be included as a differential diagnosis of a movable eyelid mass.
REFERENCES 1. Lee JL, Kim MK, Lee KH, et al. Extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue-type of the orbit and ocular adnexa. Ann Hematol 2005;84:13–8. 2. Rasmussen P, Ralfkiaer E, Prause JU, et al. Malignant lymphoma of the lacrimal gland: a nation-based study. Arch Ophthalmol 2011;129:1275–80. 3. Arat YO, Boniuk M. Incidental diagnosis of orbital lymphoma during blepharoplasty. Ophthal Plast Reconstr Surg 2003;19:316–9. 4. Esik O, Ikeda H, Mukai K, et al. A retrospective analysis of different modalities for treatment of primary orbital non-Hodgkin’s lymphomas. Radiother Oncol 1996;38:13–8.
Eyelid Desmoplastic Trichilemmoma: 2 Case Reports and Review Matthew Pihlblad, M.D., James Chelnis, M.D., and Daniel Schaefer, M.D. Abstract: Desmoplastic trichilemmomas (DTs) are a rare variant of trichilemmomas first described in 1985. Since then, 11 cases involving the eyelid have been reported. Two cases of this study raise this total to 13. DTs are often clinically confused with basal cell carcinoma and must be proven by biopsy to obtain the correct diagnosis. These lesions are more commonly present in patients older than 50 years. Despite the fact that they are benign, they are often associated with basal cell carcinomas and as such should be managed carefully, requiring excisional biopsy with frozen borders or Mohs controlled margins.
T
richilemmomas, benign adnexal skin tumors related to the outer sheath of pilosebaceous hair follicles, were first reported by Headington and French in 1962.1 A rarer histologic variant, desmoplastic trichilemmomas (DTs), was first reported by Starink et al.2 in 1985, followed by a case series of 22 patients in 1990 by Hunt et al.3, and can be identified by an increase in the presence of fibrosis mimicking invasive carcinomas. Clinically, DTs are often asymptomatic, solitary, dome-shaped nodules or papules with a smooth or verrucous surface but infrequently can have a pearly border or appear ulcerated. The lesions are usually 5 to 7 mm and rarely >10 mm.3 They are commonly slow growing and often present for months to a few years with superficial growth. Most patients are older than 50 years, with 56% of all reported lesions having been diagnosed in men. Common locations include the lip and nose, but they can be located outside the face.3 This study reports 2 cases of eyelid DTs and reviews the literature. To the authors’ knowledge, there have been only 11 cases reported previously in the literature involving the eyelids.3–11 This study adheres to the principles of the Declaration of Helsinki and is Health Insurance Portability and Accountability Act compliant. Ross Eye Institute, Buffalo, New York, U.S.A. Accepted for publication July 19, 2013. This work was supported by an unrestricted award from Research to Prevent Blindness, New York, New York. The authors have no conflicts of interest to disclose. Address correspondence and reprint requests to James Chelnis, M.D., Ross Eye Institute, 1176 Main St, Buffalo, NY 14209. E-mail: jchelnis@ gmail.com DOI: 10.1097/IOP.0b013e3182a65067
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CASE SERIES Case Report 1. A 62-year-old woman was referred for a 4 × 4 mm lesion suspected to be basal cell carcinoma (BCC) or molluscum contagiosum on the medial aspect of the right upper eyelid (Fig. 1A). The lesion was present for nearly 1 year causing irritation and itching with occasionally associated mucoid discharge and had increased in size over the last 4 months. The patient’s medical history included mental retardation, phenylketonuria, osteoporosis, and sinusitis. There were several other smaller cystic lesions in the same area; the examination was limited secondary to severe mental retardation but revealed no other gross ocular abnormalities. The patient underwent an examination under general anesthesia and excisional biopsy. The largest lesion was excised completely with the eyelashes and margin intact, while the other small and clinically distinct cystic lesions were opened and expressed during the procedure. Histopathologic diagnosis was DT (Fig. 2). The patient had no evidence of recurrence at 1 year after excision. Case Report 2. A 63-year-old man was referred by an outside ophthalmologist for a central left lower eyelid lesion that had gradually increased in size to 4 mm in diameter over the past 4 months (Fig. 1B). The patient reported itching over this time period but denied discharge or bleeding. The patient’s medical history included hypertension, myocardial infarction, hypercholesterolemia, triple cardiac bypass, and partial lung resection after recalcitrant infection. The patient underwent an excisional biopsy. The specimen was subsequently diagnosed as a DT, with 20% of the tumor displaying desmoplastic features. The patient has no sign of recurrence at 10 months of follow up.
DISCUSSION The addition of these 2 cases of eyelid DTs raises the total of reported cases to 13.3–11 Eighty-three percent of reported DTs localized to the eyelids were identified in men with a mean age of 61.2 years (range, 51–71 years). The majority (62.5%) were located on the upper eyelid, with the average size being 6.2 mm (range, 4–11 mm). The lesions were present for an average of 21.3 months (range, 10–72 months) prior to clinical identification. In total, 82 cases of DTs have been reported in the English literature (Table). The eyelid remains the second most common site of this rare tumor with the lip (15 of 82) being the most common site. Eleven cases have been reported from lesions outside the face and scalp, while an additional 4 lesions did not have a reported location.1–12 The most common preoperative diagnoses were BCC and papilloma. With a diagnosis of desmoplastic or other trichilemmoma variants, Cowden disease, or multiple hamartoma syndrome, should be considered. Cowden disease is associated with multiple trichilemmomas, acral keratoses, sclerotic fibromas of skin, papillomas of the oral mucosa, and occasionally with tumors of the breast, thyroid, and gastrointenstinal tract. The clinical evaluations were negative for these findings in both the patients of this study. DTs can be confused with BCC clinically because this is the most common incorrect diagnosis made for DTs prior to histologic investigation. Histologically, DTs are characterized by a pseudocarcinomatous pattern, including a prominent fibrotic or desmoplastic stroma representing 20% to 60% of the tumor.3 This appearance can mimic infiltrating squamous cell carcinoma or a morphea-like BCC, but there is no nuclear atypia or mitotic activity. In contrast, clear cells are typically abundant. Illueca et
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 30, No. 5, 2014
Case Reports
FIG. 1. A, External photograph of patient 1 with a right upper eyelid lesion. B, External photograph of patient 2 with left lower eyelid lesion.
FIG. 2. A, Slide showing thin strands of the tumor that are embedded in a fibrotic stroma at the base of the neoplasm from case 1 (hematoxylin-eosin, ×100). B, Slide showing monomorphous cells with clear cytoplasm devoid of cytologic atypia from case 1 (hematoxylin-eosin, ×100).
Locations of reported desmoplastic trichilemmomas Location Scalp Forehead Eyebrow Upper eyelid Lower eyelid Ear Nose Nostril Cheek Lip Chin Face (not otherwise specified) Neck Chest Thigh/buttock Vulva Unreported
No. cases 4 3 4 5 8 2 10 1 2 15 2 11 3 5 2 1 4
al.9 reported the use of positive CD34 immunostaining of epithelial cells to aid in differentiating DTs from BCC. However, even with histologic confirmation, DTs may deserve more aggressive therapy than other benign lesions
due to their possible association with BCC. Of note, in 8 cases DT was histologically associated with BCC. Three of these lesions involved the lower eyelid and none, the upper eyelid. Recurrence of BCC following incomplete excision of DT associated with BCC has also been reported.9,10,12 Crowson and Magro12 found that 14% (4 of 28) of DTs had associated atypical basaloid proliferation and 11% (3 of 28) were diagnostic of BCC. Two were found in continuity with DT, while 2 arose in a discontiguous fashion.12 Ung et al.10 reported 3 cases of eyelid DTs associated with BCC (all on the lower eyelid) and recommended that any biopsy-proven DT should be managed with wide margin excision to ensure complete clearance and to excise any potential coexisting BCC. The eyelid should be a recognized site for DTs for all ophthalmologists. This study recommends complete excision of DTs with histologic confirmation of the borders or Mohs micrographic surgery to rule out coexisting BCC, especially in cases where desmoplastic features are found at the base of the lesion. With any atypical basaloid proliferations, a more aggressive approach with wide margins is required.
REFERENCES 1. Headington JT, French AJ. Primary neoplasms of the hair follicle. Histogenesis and classification. Arch Dermatol 1962;86: 430–41.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Ophthal Plast Reconstr Surg, Vol. 30, No. 5, 2014
Case Reports
2. Starink TM, Meijer CJ, Brownstein MH. The cutaneous pathology of Cowden’s disease: new findings. J Cutan Pathol 1985;12: 83–93. 3. Hunt SJ, Kilzer B, Santa Cruz DJ. Desmoplastic trichilemmoma: histologic variant resembling invasive carcinoma. J Cutan Pathol 1990;17:45–52. 4. Afshar M, Lee RA, Jiang SI. Desmoplastic trichilemmoma—a report of successful treatment with Mohs micrographic surgery and a review and update of the literature. Dermatol Surg 2012;38:1867–71. 5. Tellechea O, Reis JP, Baptista AP. Desmoplastic trichilemmoma. Am J Dermatopathol 1992;14:107–4. 6. Topping NC, Chakrabarty A, Edrich C, et al. Desmoplastic trichilemmoma of the upper eyelid. Eye (Lond) 1999;13 (pt 4):593–4. 7. Boulton JE, Sullivan TJ, Whitehead KJ. The eyelid is a site of occurrence of desmoplastic trichilemmoma. Eye (Lond) 2001;15(pt 2):257.
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8. Keskinbora KH, Buyukbabani N, Terzi N. Desmoplastic trichilemmoma: a rare tumor of the eyelid. Eur J Ophthalmol 2004;14: 562–4. 9. Illueca C, Monteagudo C, Revert A, et al. Diagnostic value of CD34 immunostaining in desmoplastic trichilemmoma. J Cutan Pathol 1998;25:435–9. 10. Ung T, Tan JH, Mudhar H. Three patients with desmoplastic tricholemmoma with an incidental histological surprise impacting on management. Br J Ophthalmol 2012;96:461–2, 470. 11. Cabral ES, Cassarino DS. Desmoplastic tricholemmoma of the eyelid misdiagnosed as sebaceous carcinoma: a potential diagnostic pitfall. J Cutan Pathol 2007;34(suppl 1):22–5. 12. Crowson AN, Magro CM. Basal cell carcinoma arising in association with desmoplastic trichilemmoma. Am J Dermatopathol 1996;18:43–8.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Case Reports
findings, a MALT lymphoma needs to be included as a differential diagnosis of a movable eyelid mass.
REFERENCES 1. Lee JL, Kim MK, Lee KH, et al. Extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue-type of the orbit and ocular adnexa. Ann Hematol 2005;84:13–8. 2. Rasmussen P, Ralfkiaer E, Prause JU, et al. Malignant lymphoma of the lacrimal gland: a nation-based study. Arch Ophthalmol 2011;129:1275–80. 3. Arat YO, Boniuk M. Incidental diagnosis of orbital lymphoma during blepharoplasty. Ophthal Plast Reconstr Surg 2003;19:316–9. 4. Esik O, Ikeda H, Mukai K, et al. A retrospective analysis of different modalities for treatment of primary orbital non-Hodgkin’s lymphomas. Radiother Oncol 1996;38:13–8.
Eyelid Desmoplastic Trichilemmoma: 2 Case Reports and Review Matthew Pihlblad, M.D., James Chelnis, M.D., and Daniel Schaefer, M.D. Abstract: Desmoplastic trichilemmomas (DTs) are a rare variant of trichilemmomas first described in 1985. Since then, 11 cases involving the eyelid have been reported. Two cases of this study raise this total to 13. DTs are often clinically confused with basal cell carcinoma and must be proven by biopsy to obtain the correct diagnosis. These lesions are more commonly present in patients older than 50 years. Despite the fact that they are benign, they are often associated with basal cell carcinomas and as such should be managed carefully, requiring excisional biopsy with frozen borders or Mohs controlled margins.
T
richilemmomas, benign adnexal skin tumors related to the outer sheath of pilosebaceous hair follicles, were first reported by Headington and French in 1962.1 A rarer histologic variant, desmoplastic trichilemmomas (DTs), was first reported by Starink et al.2 in 1985, followed by a case series of 22 patients in 1990 by Hunt et al.3, and can be identified by an increase in the presence of fibrosis mimicking invasive carcinomas. Clinically, DTs are often asymptomatic, solitary, dome-shaped nodules or papules with a smooth or verrucous surface but infrequently can have a pearly border or appear ulcerated. The lesions are usually 5 to 7 mm and rarely >10 mm.3 They are commonly slow growing and often present for months to a few years with superficial growth. Most patients are older than 50 years, with 56% of all reported lesions having been diagnosed in men. Common locations include the lip and nose, but they can be located outside the face.3 This study reports 2 cases of eyelid DTs and reviews the literature. To the authors’ knowledge, there have been only 11 cases reported previously in the literature involving the eyelids.3–11 This study adheres to the principles of the Declaration of Helsinki and is Health Insurance Portability and Accountability Act compliant. Ross Eye Institute, Buffalo, New York, U.S.A. Accepted for publication July 19, 2013. This work was supported by an unrestricted award from Research to Prevent Blindness, New York, New York. The authors have no conflicts of interest to disclose. Address correspondence and reprint requests to James Chelnis, M.D., Ross Eye Institute, 1176 Main St, Buffalo, NY 14209. E-mail: jchelnis@ gmail.com DOI: 10.1097/IOP.0b013e3182a65067
e136
CASE SERIES Case Report 1. A 62-year-old woman was referred for a 4 × 4 mm lesion suspected to be basal cell carcinoma (BCC) or molluscum contagiosum on the medial aspect of the right upper eyelid (Fig. 1A). The lesion was present for nearly 1 year causing irritation and itching with occasionally associated mucoid discharge and had increased in size over the last 4 months. The patient’s medical history included mental retardation, phenylketonuria, osteoporosis, and sinusitis. There were several other smaller cystic lesions in the same area; the examination was limited secondary to severe mental retardation but revealed no other gross ocular abnormalities. The patient underwent an examination under general anesthesia and excisional biopsy. The largest lesion was excised completely with the eyelashes and margin intact, while the other small and clinically distinct cystic lesions were opened and expressed during the procedure. Histopathologic diagnosis was DT (Fig. 2). The patient had no evidence of recurrence at 1 year after excision. Case Report 2. A 63-year-old man was referred by an outside ophthalmologist for a central left lower eyelid lesion that had gradually increased in size to 4 mm in diameter over the past 4 months (Fig. 1B). The patient reported itching over this time period but denied discharge or bleeding. The patient’s medical history included hypertension, myocardial infarction, hypercholesterolemia, triple cardiac bypass, and partial lung resection after recalcitrant infection. The patient underwent an excisional biopsy. The specimen was subsequently diagnosed as a DT, with 20% of the tumor displaying desmoplastic features. The patient has no sign of recurrence at 10 months of follow up.
DISCUSSION The addition of these 2 cases of eyelid DTs raises the total of reported cases to 13.3–11 Eighty-three percent of reported DTs localized to the eyelids were identified in men with a mean age of 61.2 years (range, 51–71 years). The majority (62.5%) were located on the upper eyelid, with the average size being 6.2 mm (range, 4–11 mm). The lesions were present for an average of 21.3 months (range, 10–72 months) prior to clinical identification. In total, 82 cases of DTs have been reported in the English literature (Table). The eyelid remains the second most common site of this rare tumor with the lip (15 of 82) being the most common site. Eleven cases have been reported from lesions outside the face and scalp, while an additional 4 lesions did not have a reported location.1–12 The most common preoperative diagnoses were BCC and papilloma. With a diagnosis of desmoplastic or other trichilemmoma variants, Cowden disease, or multiple hamartoma syndrome, should be considered. Cowden disease is associated with multiple trichilemmomas, acral keratoses, sclerotic fibromas of skin, papillomas of the oral mucosa, and occasionally with tumors of the breast, thyroid, and gastrointenstinal tract. The clinical evaluations were negative for these findings in both the patients of this study. DTs can be confused with BCC clinically because this is the most common incorrect diagnosis made for DTs prior to histologic investigation. Histologically, DTs are characterized by a pseudocarcinomatous pattern, including a prominent fibrotic or desmoplastic stroma representing 20% to 60% of the tumor.3 This appearance can mimic infiltrating squamous cell carcinoma or a morphea-like BCC, but there is no nuclear atypia or mitotic activity. In contrast, clear cells are typically abundant. Illueca et
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 30, No. 5, 2014
Case Reports
FIG. 1. A, External photograph of patient 1 with a right upper eyelid lesion. B, External photograph of patient 2 with left lower eyelid lesion.
FIG. 2. A, Slide showing thin strands of the tumor that are embedded in a fibrotic stroma at the base of the neoplasm from case 1 (hematoxylin-eosin, ×100). B, Slide showing monomorphous cells with clear cytoplasm devoid of cytologic atypia from case 1 (hematoxylin-eosin, ×100).
Locations of reported desmoplastic trichilemmomas Location Scalp Forehead Eyebrow Upper eyelid Lower eyelid Ear Nose Nostril Cheek Lip Chin Face (not otherwise specified) Neck Chest Thigh/buttock Vulva Unreported
No. cases 4 3 4 5 8 2 10 1 2 15 2 11 3 5 2 1 4
al.9 reported the use of positive CD34 immunostaining of epithelial cells to aid in differentiating DTs from BCC. However, even with histologic confirmation, DTs may deserve more aggressive therapy than other benign lesions
due to their possible association with BCC. Of note, in 8 cases DT was histologically associated with BCC. Three of these lesions involved the lower eyelid and none, the upper eyelid. Recurrence of BCC following incomplete excision of DT associated with BCC has also been reported.9,10,12 Crowson and Magro12 found that 14% (4 of 28) of DTs had associated atypical basaloid proliferation and 11% (3 of 28) were diagnostic of BCC. Two were found in continuity with DT, while 2 arose in a discontiguous fashion.12 Ung et al.10 reported 3 cases of eyelid DTs associated with BCC (all on the lower eyelid) and recommended that any biopsy-proven DT should be managed with wide margin excision to ensure complete clearance and to excise any potential coexisting BCC. The eyelid should be a recognized site for DTs for all ophthalmologists. This study recommends complete excision of DTs with histologic confirmation of the borders or Mohs micrographic surgery to rule out coexisting BCC, especially in cases where desmoplastic features are found at the base of the lesion. With any atypical basaloid proliferations, a more aggressive approach with wide margins is required.
REFERENCES 1. Headington JT, French AJ. Primary neoplasms of the hair follicle. Histogenesis and classification. Arch Dermatol 1962;86: 430–41.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Ophthal Plast Reconstr Surg, Vol. 30, No. 5, 2014
Case Reports
2. Starink TM, Meijer CJ, Brownstein MH. The cutaneous pathology of Cowden’s disease: new findings. J Cutan Pathol 1985;12: 83–93. 3. Hunt SJ, Kilzer B, Santa Cruz DJ. Desmoplastic trichilemmoma: histologic variant resembling invasive carcinoma. J Cutan Pathol 1990;17:45–52. 4. Afshar M, Lee RA, Jiang SI. Desmoplastic trichilemmoma—a report of successful treatment with Mohs micrographic surgery and a review and update of the literature. Dermatol Surg 2012;38:1867–71. 5. Tellechea O, Reis JP, Baptista AP. Desmoplastic trichilemmoma. Am J Dermatopathol 1992;14:107–4. 6. Topping NC, Chakrabarty A, Edrich C, et al. Desmoplastic trichilemmoma of the upper eyelid. Eye (Lond) 1999;13 (pt 4):593–4. 7. Boulton JE, Sullivan TJ, Whitehead KJ. The eyelid is a site of occurrence of desmoplastic trichilemmoma. Eye (Lond) 2001;15(pt 2):257.
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8. Keskinbora KH, Buyukbabani N, Terzi N. Desmoplastic trichilemmoma: a rare tumor of the eyelid. Eur J Ophthalmol 2004;14: 562–4. 9. Illueca C, Monteagudo C, Revert A, et al. Diagnostic value of CD34 immunostaining in desmoplastic trichilemmoma. J Cutan Pathol 1998;25:435–9. 10. Ung T, Tan JH, Mudhar H. Three patients with desmoplastic tricholemmoma with an incidental histological surprise impacting on management. Br J Ophthalmol 2012;96:461–2, 470. 11. Cabral ES, Cassarino DS. Desmoplastic tricholemmoma of the eyelid misdiagnosed as sebaceous carcinoma: a potential diagnostic pitfall. J Cutan Pathol 2007;34(suppl 1):22–5. 12. Crowson AN, Magro CM. Basal cell carcinoma arising in association with desmoplastic trichilemmoma. Am J Dermatopathol 1996;18:43–8.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
