Clinical Review & Education
Clinical Problem Solving | PATHOLOGY
Calcific Neck Mass in an Adolescent Girl Tristan C. Bice, BA; Ryan D. Walker, MD; Li-Xing Man, MSc, MD, MPA
A
B
C
Figure. A, The gross specimen from a calcified neck mass. B and C, Histopathologic images from a biopsy specimen. Hematoxylin-eosin, original magnification ×12.5 (B) and ×100 (C).
A healthy adolescent girl presented for evaluation of a lump in the right side of her neck. She reported that it had been slowly enlarging since she first noticed it 3 years previously. The mass was painless. She had not experienced dysphagia, voice changes, skin changes, or drainage. There was no history of trauma to this region. She had a remote history of adenotonsillectomy and currently used tobacco. Examination of the neck revealed a 2-cm, hard, irregular, superficial, mobile mass located just lateral to midline and just deep to the skin without erythema or induration of the surrounding tissue. Deep palpation elicited tenderness, and overlying skin dimpling was noted. There was no lymphadenopathy or
jamaotolaryngology.com
thyromegaly, and findings from the examination were otherwise unremarkable. The patient agreed to undergo surgical excision. A 2 × 0.8 × 0.7cm calcified mass was excised after mobilization of its attachments to the platysma muscle. The gross specimen was tannish yellow in color and hard with calcifications (Figure, A). Histopathologic examination revealed a well-circumscribed lesion of heterogenous appearance (Figure, B, ×12.5 magnification). Higher magnification revealed islands of basaloid and shadow cells and associated trabecular bone containing entrapped osteocytes (Figure, C, ×100 magnification). Giant cells were visible at the periphery of the basaloid cell matrix. What is your diagnosis?
JAMA Otolaryngology–Head & Neck Surgery October 2014 Volume 140, Number 10
Copyright 2014 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a Rutgers University Libraries User on 06/03/2015
981
Clinical Review & Education Clinical Problem Solving
Diagnosis Pilomatricoma with heterotopic ossification
Discussion Pilomatricoma is an uncommon, benign, calcifying skin tumor. Initially described by Malherbe in 1880 as a calcifying epithelioma, it was not until 1961 that Forbis and Helwig1 renamed this entity after correctly deducing its origin from hair matrix cells. The etiology remains unclear, but a recent study2 has implicated activating mutations in the proto-oncogene β-catenin in a high percentage of cases. Pilomatricoma typically presents as an asymptomatic, solitary, slow-growing, hard, superficial mass. Mild pain and tenderness may occur.3 The mass is usually smaller than 2 cm and may be associated with overlying bluish skin discoloration or dimpling.3-5 Pilomatricoma has a predilection for the head and neck, particularly the cheeks, scalp, and periorbital regions.3-6 Presentation may also occur on the upper extremities, thorax, or less commonly on the lower extremities. Incidence of pilomatricoma is bimodal and is highest in the first 2 decades of life with a lesser peak around the sixth and seventh decades.5 The female-to-male ratio is approximately 2:1.4,6 Pilomatricoma occasionally appears at sites of previous injury or infection.3,4 Multiple pilomatricomata occur in 2% to 10% of cases and are associated with myotonic dystrophy (MD), Turner syndrome, Gardner syndrome, and sarcoidosis.5,7 Familial pilomatricomata in association with MD has been reported, including appearance of pilomatricomata preceding onset of MD. 7 Malignant transformation to pilomatrix carcinoma and metastasis are very rare and occur mostly in older individuals.8 Histopathologic examination of pilomatricoma typically demonstrates bands of basaloid and shadow cells.1,3 The tumor arises from dermal tissue and extends into subcutaneous fat, compressing surrounding collagen into a fibrous capsule. Basaloid cells possess strongly basophilic rounded nuclei, scant cytoplasm, uniform size, and indistinct cell borders and may be seen peripherally encompassing shadow cells. Keratinization and apoptosis of basaloid cells leave behind central stacks or whorls of eosinophilic shadow ARTICLE INFORMATION Author Affiliations: University of Rochester School of Medicine and Dentistry, Rochester, New York (Bice, Walker); Department of Otolaryngology– Head and Neck Surgery, University of Rochester, Rochester, New York (Walker, Man).
Additional Contributions: Philip Katzman, MD, provided assistance with the imaging and description of the histologic findings. He was not compensated for his contributions.
5. Lan MY, Lan MC, Ho CY, Li WY, Lin CZ. Pilomatricoma of the head and neck: a retrospective review of 179 cases. Arch Otolaryngol Head Neck Surg. 2003;129(12):1327-1330.
REFERENCES
6. Moehlenbeck FW. Pilomatrixoma (calcifying epithelioma). A statistical study. Arch Dermatol. 1973;108(4):532-534.
Corresponding Author: Ryan D. Walker, MD, Department of Otolaryngology–Head and Neck Surgery, University of Rochester School of Medicine and Dentistry, University of Rochester Medical Center, 601 Elmwood Ave, PO Box 629, Rochester, NY 14642 ([email protected]).
1. Forbis R Jr, Helwig EB. Pilomatrixoma (calcifying epithelioma). Arch Dermatol. 1961;83:606-618.
Section Editor: Edward B. Stelow, MD.
3. Pirouzmanesh A, Reinisch JF, Gonzalez-Gomez I, Smith EM, Meara JG. Pilomatrixoma: a review of 346 cases. Plast Reconstr Surg. 2003;112(7): 1784-1789.
Published Online: September 11, 2014. doi:10.1001/jamaoto.2014.1930. Conflict of Interest Disclosures: None reported.
982
(or “ghost”) cells, named for the empty spaces their nuclei once occupied. Shadow cell debris may trigger local inflammation and giant cell formation. Frequently, the keratinized remains become calcified, and heterotopic ossification may occur. Histologic features of benign pilomatricoma do not seem to correlate with clinical evolution.3 Malignant disease is characterized by invasion of underlying structures and vessels, necrosis, nuclear pleomorphism, and atypical mitoses.3 The diagnosis of pilomatricoma can be made clinically, although owing to its relative rarity, the rate of preoperative diagnosis is less than 30%.3,5 The differential diagnosis includes epidermoid or dermoid cyst, sebaceous cyst, calcified hematoma, calcified lymph node, adenopathy, chondroma, giant cell tumor, branchial remnant, and foreign body reaction. Presence of irregular or nodular shape, adherence to skin but not underlying tissue, and overlying bluish skin changes differentiate typical pilomatricoma from epidermoid and dermoid cysts.3 In benign pilomatricoma, there is no lymphadenopathy or systemic involvement, and location may be unusual for nodal metastases. Skin stretched over the pilomatricoma may reveal the “tent sign” as it drapes over nodularities of the tumor, reminiscent of circus tents.4 Imaging is usually of little value unless location or symptoms are concerning, though ultrasonography is occasionally used to visualize large tumors near the parotid gland or breast.3 Because spontaneous regression has never been reported, surgical excision is the treatment of choice. Excision of overlying skin may be necessary. Surgery is curative and generally results in good cosmesis.4 Recurrence rates of 1% to 3% have been reported.3,5 Repeated local recurrence should prompt consideration of malignant disease, which is an indication for wide local excision with 1- to 2-cm margins.5 Pilomatricoma is a relatively unfamiliar clinical entity in otolaryngology. It should be included in the differential diagnosis of slowgrowing, superficial head and neck masses. Broader understanding of pilomatricoma may spare patients and clinicians unnecessary concern and excessive workup.
2. Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet. 1999;21(4): 410-413.
7. Geh JL, Moss AL. Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg. 1999;52(2):143-145. 8. Harsha WJ, Wilson A, Tremaine L, Hanson JR. Pathology quiz case 2: diagnosis: pilomatrix carcinoma. Arch Otolaryngol Head Neck Surg. 2007; 133(8):840-842.
4. Cigliano B, Baltogiannis N, De Marco M, et al. Pilomatricoma in childhood: a retrospective study from three European paediatric centres. Eur J Pediatr. 2005;164(11):673-677.
JAMA Otolaryngology–Head & Neck Surgery October 2014 Volume 140, Number 10
Copyright 2014 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a Rutgers University Libraries User on 06/03/2015
jamaotolaryngology.com
Clinical Problem Solving | PATHOLOGY
Calcific Neck Mass in an Adolescent Girl Tristan C. Bice, BA; Ryan D. Walker, MD; Li-Xing Man, MSc, MD, MPA
A
B
C
Figure. A, The gross specimen from a calcified neck mass. B and C, Histopathologic images from a biopsy specimen. Hematoxylin-eosin, original magnification ×12.5 (B) and ×100 (C).
A healthy adolescent girl presented for evaluation of a lump in the right side of her neck. She reported that it had been slowly enlarging since she first noticed it 3 years previously. The mass was painless. She had not experienced dysphagia, voice changes, skin changes, or drainage. There was no history of trauma to this region. She had a remote history of adenotonsillectomy and currently used tobacco. Examination of the neck revealed a 2-cm, hard, irregular, superficial, mobile mass located just lateral to midline and just deep to the skin without erythema or induration of the surrounding tissue. Deep palpation elicited tenderness, and overlying skin dimpling was noted. There was no lymphadenopathy or
jamaotolaryngology.com
thyromegaly, and findings from the examination were otherwise unremarkable. The patient agreed to undergo surgical excision. A 2 × 0.8 × 0.7cm calcified mass was excised after mobilization of its attachments to the platysma muscle. The gross specimen was tannish yellow in color and hard with calcifications (Figure, A). Histopathologic examination revealed a well-circumscribed lesion of heterogenous appearance (Figure, B, ×12.5 magnification). Higher magnification revealed islands of basaloid and shadow cells and associated trabecular bone containing entrapped osteocytes (Figure, C, ×100 magnification). Giant cells were visible at the periphery of the basaloid cell matrix. What is your diagnosis?
JAMA Otolaryngology–Head & Neck Surgery October 2014 Volume 140, Number 10
Copyright 2014 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a Rutgers University Libraries User on 06/03/2015
981
Clinical Review & Education Clinical Problem Solving
Diagnosis Pilomatricoma with heterotopic ossification
Discussion Pilomatricoma is an uncommon, benign, calcifying skin tumor. Initially described by Malherbe in 1880 as a calcifying epithelioma, it was not until 1961 that Forbis and Helwig1 renamed this entity after correctly deducing its origin from hair matrix cells. The etiology remains unclear, but a recent study2 has implicated activating mutations in the proto-oncogene β-catenin in a high percentage of cases. Pilomatricoma typically presents as an asymptomatic, solitary, slow-growing, hard, superficial mass. Mild pain and tenderness may occur.3 The mass is usually smaller than 2 cm and may be associated with overlying bluish skin discoloration or dimpling.3-5 Pilomatricoma has a predilection for the head and neck, particularly the cheeks, scalp, and periorbital regions.3-6 Presentation may also occur on the upper extremities, thorax, or less commonly on the lower extremities. Incidence of pilomatricoma is bimodal and is highest in the first 2 decades of life with a lesser peak around the sixth and seventh decades.5 The female-to-male ratio is approximately 2:1.4,6 Pilomatricoma occasionally appears at sites of previous injury or infection.3,4 Multiple pilomatricomata occur in 2% to 10% of cases and are associated with myotonic dystrophy (MD), Turner syndrome, Gardner syndrome, and sarcoidosis.5,7 Familial pilomatricomata in association with MD has been reported, including appearance of pilomatricomata preceding onset of MD. 7 Malignant transformation to pilomatrix carcinoma and metastasis are very rare and occur mostly in older individuals.8 Histopathologic examination of pilomatricoma typically demonstrates bands of basaloid and shadow cells.1,3 The tumor arises from dermal tissue and extends into subcutaneous fat, compressing surrounding collagen into a fibrous capsule. Basaloid cells possess strongly basophilic rounded nuclei, scant cytoplasm, uniform size, and indistinct cell borders and may be seen peripherally encompassing shadow cells. Keratinization and apoptosis of basaloid cells leave behind central stacks or whorls of eosinophilic shadow ARTICLE INFORMATION Author Affiliations: University of Rochester School of Medicine and Dentistry, Rochester, New York (Bice, Walker); Department of Otolaryngology– Head and Neck Surgery, University of Rochester, Rochester, New York (Walker, Man).
Additional Contributions: Philip Katzman, MD, provided assistance with the imaging and description of the histologic findings. He was not compensated for his contributions.
5. Lan MY, Lan MC, Ho CY, Li WY, Lin CZ. Pilomatricoma of the head and neck: a retrospective review of 179 cases. Arch Otolaryngol Head Neck Surg. 2003;129(12):1327-1330.
REFERENCES
6. Moehlenbeck FW. Pilomatrixoma (calcifying epithelioma). A statistical study. Arch Dermatol. 1973;108(4):532-534.
Corresponding Author: Ryan D. Walker, MD, Department of Otolaryngology–Head and Neck Surgery, University of Rochester School of Medicine and Dentistry, University of Rochester Medical Center, 601 Elmwood Ave, PO Box 629, Rochester, NY 14642 ([email protected]).
1. Forbis R Jr, Helwig EB. Pilomatrixoma (calcifying epithelioma). Arch Dermatol. 1961;83:606-618.
Section Editor: Edward B. Stelow, MD.
3. Pirouzmanesh A, Reinisch JF, Gonzalez-Gomez I, Smith EM, Meara JG. Pilomatrixoma: a review of 346 cases. Plast Reconstr Surg. 2003;112(7): 1784-1789.
Published Online: September 11, 2014. doi:10.1001/jamaoto.2014.1930. Conflict of Interest Disclosures: None reported.
982
(or “ghost”) cells, named for the empty spaces their nuclei once occupied. Shadow cell debris may trigger local inflammation and giant cell formation. Frequently, the keratinized remains become calcified, and heterotopic ossification may occur. Histologic features of benign pilomatricoma do not seem to correlate with clinical evolution.3 Malignant disease is characterized by invasion of underlying structures and vessels, necrosis, nuclear pleomorphism, and atypical mitoses.3 The diagnosis of pilomatricoma can be made clinically, although owing to its relative rarity, the rate of preoperative diagnosis is less than 30%.3,5 The differential diagnosis includes epidermoid or dermoid cyst, sebaceous cyst, calcified hematoma, calcified lymph node, adenopathy, chondroma, giant cell tumor, branchial remnant, and foreign body reaction. Presence of irregular or nodular shape, adherence to skin but not underlying tissue, and overlying bluish skin changes differentiate typical pilomatricoma from epidermoid and dermoid cysts.3 In benign pilomatricoma, there is no lymphadenopathy or systemic involvement, and location may be unusual for nodal metastases. Skin stretched over the pilomatricoma may reveal the “tent sign” as it drapes over nodularities of the tumor, reminiscent of circus tents.4 Imaging is usually of little value unless location or symptoms are concerning, though ultrasonography is occasionally used to visualize large tumors near the parotid gland or breast.3 Because spontaneous regression has never been reported, surgical excision is the treatment of choice. Excision of overlying skin may be necessary. Surgery is curative and generally results in good cosmesis.4 Recurrence rates of 1% to 3% have been reported.3,5 Repeated local recurrence should prompt consideration of malignant disease, which is an indication for wide local excision with 1- to 2-cm margins.5 Pilomatricoma is a relatively unfamiliar clinical entity in otolaryngology. It should be included in the differential diagnosis of slowgrowing, superficial head and neck masses. Broader understanding of pilomatricoma may spare patients and clinicians unnecessary concern and excessive workup.
2. Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet. 1999;21(4): 410-413.
7. Geh JL, Moss AL. Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg. 1999;52(2):143-145. 8. Harsha WJ, Wilson A, Tremaine L, Hanson JR. Pathology quiz case 2: diagnosis: pilomatrix carcinoma. Arch Otolaryngol Head Neck Surg. 2007; 133(8):840-842.
4. Cigliano B, Baltogiannis N, De Marco M, et al. Pilomatricoma in childhood: a retrospective study from three European paediatric centres. Eur J Pediatr. 2005;164(11):673-677.
JAMA Otolaryngology–Head & Neck Surgery October 2014 Volume 140, Number 10
Copyright 2014 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a Rutgers University Libraries User on 06/03/2015
jamaotolaryngology.com
