Skip to main content

Skin Adnexal Tumours: A Large Spectrum of Clinic-Pathological Lesions

  • Chapter
  • First Online:
Skin Cancer

Abstract

Skin adnexal neoplasms comprise a wide spectrum of more than 80 benign and malignant tumours, exhibiting morphological differentiation towards pilosebaceous unit, eccrine and apocrine glands. In addition more than one line of differentiation in this neoplasm could be observed. These tumours generally exhibit a benign behaviour, but malignant histotypes also exist. Clinical diagnosis of specific entity and of their potential malignancy is quite impossible. Thus, the diagnosis always requires surgical excision of skin lesion, and histological features at haematoxylin and eosin-stained sections are considered generally adequate for the correct classification of skin adnexal tumours. The use of histochemical and immunohistochemical stains could further aid in this purpose. Finally, they are usually encountered as single, sporadic tumours, but they may also occasionally be multiple and hereditary, heralding complex genetic syndromes that comprise visceral cancers.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Rodriguez-Diaz E, Armio M. Mixed tumors with follicular differentiation: complex neoplasms of the primary epithelial germ. Int J Dermatol. 1994;34:782–5.

    Article  Google Scholar 

  2. Winship I, Dudding T. Lessons from the skin-cutaneous features of familial cancer. Lancet Oncol. 2008;9:462–72.

    Article  PubMed  Google Scholar 

  3. Kanitakis J. Adnexal tumors of the skin as markers of cancer-prone syndrome. J Eur Acad Dermatol Venereol. 2010;24:379–87.

    Article  PubMed  CAS  Google Scholar 

  4. Klein W, Chan E, Seykora JT. Tumors of the epidermal appendages. In: Elder DE, editor. Lever’s histopathology of the skin. 9th ed. Philadelphia: Lippincott Williams & Wilikins; 2005. p. 867–926.

    Google Scholar 

  5. Weedon D. Tumors of cutaneous appendages. In: Weedon D, editor. Skin pathology. 2nd ed. Edinburgh: Churchill Livingstone; 2002. p. 859–916.

    Google Scholar 

  6. Alsaad KO, Obaidat NA, Ghazarian D. Skin adnexal neoplasms—part 1: an approach to tumours of the pilosebaceous unit. J Clin Pathol. 2007;60:129–44.

    Article  PubMed  CAS  Google Scholar 

  7. Yoshida Y, Urabe K, Mashino T, et al. Basal cell carcinomas in association with basaloid follicular hamartoma. Dermatology. 2003;207:57–60.

    Article  PubMed  CAS  Google Scholar 

  8. Akasaka T, Kon S, Mihm Jr MC. Multiple basaloid cell hamartoma with alopecia and autoimmune disease (systemic lupus erythematosus). J Dermatol. 1996;23:821–4.

    PubMed  CAS  Google Scholar 

  9. Morton S, Stevens A, Powell RJ. Basaloid follicular hamartoma, total body hair loss and SLE. Lupus. 1998;3:207–9.

    Article  Google Scholar 

  10. Jih DM, Shapiro M, James WD, et al. Familial basaloid follicular hamartoma: lesional characterization and review of the literature. Am J Dermatopathol. 2003;25:130–7.

    Article  PubMed  Google Scholar 

  11. Stern JB, Stout DA. Trichofolliculoma showing perineural invasion. Trichofolliculocarcinoma? Arch Dermatol. 1979;115:1003–4.

    Article  PubMed  CAS  Google Scholar 

  12. Plewig G. Sebaceous trichofolliculoma. J Cutan Pathol. 1980;7:394–403.

    Article  PubMed  CAS  Google Scholar 

  13. Ramdial PK, Chrystal V, Madaree A. Folliculose baceous cystic hamartoma. Pathology. 1998;30:212–4.

    Article  PubMed  CAS  Google Scholar 

  14. Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dube syndrome. Int J Dermatol. 2005;44:668–73.

    Article  PubMed  Google Scholar 

  15. Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005;6:980–7.

    Article  PubMed  Google Scholar 

  16. Cribier B, Scrivener Y, Grosshans E. Tumors arising in nevus sebaceous: a study of 596 cases. J Am Acad Dermatol. 2000;42:263–8.

    Article  PubMed  CAS  Google Scholar 

  17. Xin H, Matt D, Qin JZ, et al. The sebaceous nevus: a nevus with deletions of the PTCH gene. Cancer Res. 1999;59:1834–6.

    PubMed  CAS  Google Scholar 

  18. Harada H, Hashimoto K, Ko MS. The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol. 1996;107:41–3.

    Article  PubMed  CAS  Google Scholar 

  19. Zhang XJ, Liang YH, He PP, et al. Identification of the cylindromatosis tumor suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol. 2004;122:658–64.

    Article  PubMed  CAS  Google Scholar 

  20. Zheng G, Hu L, Huang W, et al. CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. Hum Mutat. 2004;23:400.

    Article  PubMed  Google Scholar 

  21. Kanitakis J, Bourchany D, Faure M, et al. Expression of the hair stem cell-specific keratin 15 in pilar tumours of skin. Eur J Dermatol. 1999;9:363–5.

    PubMed  CAS  Google Scholar 

  22. Hunt SJ, Abell E. Malignant hair matrix tumor (“malignant trichoepithelioma”) arising in the setting of multiple hereditary trichoepithelioma. Am J Dermatopathol. 1991;13:275–81.

    Article  PubMed  CAS  Google Scholar 

  23. Matsuki T, Hayashi N, Mizushima J, et al. Two cases of desmoplastic trichoepithelioma. J Dermatol. 2004;31:824–7.

    PubMed  Google Scholar 

  24. Jaqueti G, Requena L, Sanchez Yus E. Trichoblastoma is the most common neoplasm developed in nevus sebaceous of Jadassohn: a clinicopathologic study of a series of 155 cases. Am J Dermatopathol. 2000;22:108–18.

    Article  PubMed  CAS  Google Scholar 

  25. Regauer S, Beham-Schmid C, Okuc M, et al. Trichoblastic carcinoma (“malignant trichoblastoma”) with lymphatic and hematogenous metastases. Mod Pathol. 2000;13:673–8.

    Article  PubMed  CAS  Google Scholar 

  26. Brownstein MH, Mehregan AH, Bikowski JB, et al. The dermatopathology of Cowden’s syndrome. Br J Dermatol. 1979;100:667–73.

    Article  PubMed  CAS  Google Scholar 

  27. Hunt SJ, Kilzer B, Santa Cruz DJ. Desmoplastic trichilemmoma: histologic variant resembling invasive carcinoma. J Cutan Pathol. 1990;17:45–52.

    Article  PubMed  CAS  Google Scholar 

  28. Chan KO, Kim IJ, Baladas HG, et al. Multiple tumour presentation of trichilemmal carcinoma. Dermatol Surg. 2003;29:886–9.

    Google Scholar 

  29. Casas JG, Woscoff A. Giant pilar tumor of the scalp. Arch Dermatol. 1980;116:1395.

    Article  PubMed  CAS  Google Scholar 

  30. Fernandez SH. Malignant proliferating trichilemmal tumour: a case report. Malays J Pathol. 1999;21:117–21.

    PubMed  CAS  Google Scholar 

  31. Geh JL, Moss AL. Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg. 1999;52:143–5.

    Article  PubMed  CAS  Google Scholar 

  32. Noguchi H, Kayashima K, Nishiyama S, et al. Two cases of pilomatrixoma in Turner’s syndrome. Dermatology. 1999;199:338–40.

    Article  PubMed  CAS  Google Scholar 

  33. Xia J, Urabe K, Moroi Y, et al. beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas. J Dermatol Sci. 2006;41:67–75.

    Article  PubMed  CAS  Google Scholar 

  34. Bremnes RM, Kvamme JM, Stalsberg H, et al. Pilomatrix carcinoma with multiple metastases: report of a case and review of the literature. Eur J Cancer. 1999;35:433–7.

    Article  PubMed  CAS  Google Scholar 

  35. Misago N, Mihara I, Ansai S, et al. Sebaceoma and related neoplasms with sebaceous differentiation: a clinicopathologic study of 30 cases. Am J Dermato pathol. 2002;24:294–304.

    Article  PubMed  Google Scholar 

  36. Bayer-Garner IB, Givens V, Smoller B. Immunohisto chemical staining for androgen receptors: a sensitive marker of sebaceous differentiation. Am J Dermato pathol. 1999;21:426–31.

    Article  PubMed  CAS  Google Scholar 

  37. Sangueza OP. Hidrocistomas. Monogr Dermatol. 1993;6:146.

    Google Scholar 

  38. Boni R, Xin H, Hohl D, et al. Syringocystadenoma papilliferum: a study of potential tumor suppressor genes. Am J Dermatopathol. 2001;23:87–9.

    Article  PubMed  CAS  Google Scholar 

  39. Kazakow DV, Zelger B, Rütten A, et al. Morphologic diversity of malignant neoplasms arising in pre- existing spiradenoma, cylindroma, and spyradenocylindroma based on the study of 24 cases, sporadic or occuring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol. 2009;33:705–19.

    Article  Google Scholar 

  40. Crowson AN, Magro CM, Mihm MC. Malignant adnexal neoplasms. Mod Pathol. 2006;19:S93–S126.

    Article  PubMed  Google Scholar 

  41. Urso C, Bondi R, Paglierani M, et al. Carcinomas of sweat glands: report of 60 cases. Arch Pathol Lab Med. 2001;125:498–505.

    PubMed  CAS  Google Scholar 

  42. Akalin T, Sen S, Yuceturc A, et al. P53 protein expression in eccrine poroma and porocarcinoma. Am J Dermatopathol. 2001;23:402–6.

    Article  PubMed  CAS  Google Scholar 

  43. Waxtein L, Vega E, Cortes R, et al. Malignant nodular hidradenoma. Int J Dermatol. 1998;37:225–8.

    Article  PubMed  CAS  Google Scholar 

  44. Gerretsen AL, van der Putte SC, Deenstra W, et al. Cutaneous cylindroma with malignant transformation. Cancer. 1993;72:1618–23.

    Article  PubMed  CAS  Google Scholar 

  45. Granter SR, Seeger K, Calonje E, et al. Malignant eccrine spiradenoma (spiradenocarcinoma): a clinicopathologic study of 12 cases. Am J Dermatopathol. 2000;22:97–103.

    Article  PubMed  CAS  Google Scholar 

  46. Satter EK, Graham BS. Chondroid syringoma. Cutis. 2003;71:49–52.

    PubMed  Google Scholar 

  47. Yamamoto O, Yasuda H. An immunohistochemical study of the apocrine type of cutaneous mixed tumors with special reference to their follicular and sebaceous differentiation. J Cutan Pathol. 1999;26:232–41.

    Article  PubMed  CAS  Google Scholar 

  48. Nather A, Sutherland IH. Malignant transformation of a benign cutaneous mixed tumour. J Hand Surg [Br]. 1986;11:139–43.

    Article  CAS  Google Scholar 

  49. Wohlfahrt C, Ternesten A, Shalin P, et al. Cytogenetic and fluorescence in situ hybridization analysis of a microcystic adnexal carcinoma with del(6)(q23q25). Cancer Genet Cytogenet. 1997;98:106–10.

    Article  PubMed  CAS  Google Scholar 

  50. Ban M, Sugie S, Kamiya H, et al. Microcystic adnexal carcinoma with lymph node metastasis. Dermatology. 2003;207:395–7.

    Article  PubMed  Google Scholar 

  51. Duke WH, Sherrod TT, Lupton GP. Aggressive digital papillary adenocarcinoma (aggressive digital papillary adenoma and adenocarcinoma revisited). Am J Surg Pathol. 2000;24:775–84.

    Article  PubMed  CAS  Google Scholar 

  52. Chang SE, Ahn SJ, Choi JH, et al. Primary adenoid cystic carcinoma of skin with lung metastasis. J Am Acad Dermatol. 1999;40:640–2.

    Article  PubMed  CAS  Google Scholar 

  53. Van der Kwast TH, Vuzevski VD, Ramaekers F, et al. Primary cutaneous adenoid cystic carcinoma: case report, immunohistochemistry, and review of the literature. Br J Dermatol. 1988;118:567–77.

    Article  PubMed  Google Scholar 

  54. Requena L, Kiryu H, Ackerman AB. Neoplasms with apocrine differentiation. Philadelphia: Lippincott Williams & Wilkins; 1998.

    Google Scholar 

  55. Quereshi HS, Salama ME, Chitale D, et al. Primary cutaneous mucinous carcinoma: presence of myoepithelial cells as a clue to the cutaneous origin. Am J Dermatopathol. 2004;26:353–8.

    Article  Google Scholar 

  56. Loane J, Kealy WF, Mulcahy G. Perianal hidradenoma papilliferum occurring in a male: a case report. Ir J Med Sci. 1998;16:726–7.

    Google Scholar 

  57. Miyamoto T, Hagari Y, Inoue S, et al. Axillary apocrine carcinoma with benign apocrine tumours: a case report involving a pathological and immunohistochemical study and review of the literature. J Clin Pathol. 2005;58(7):757–61.

    Article  PubMed  CAS  Google Scholar 

  58. Van der Putte SC, Van Gorp LH. Adenocarcinoma of the mammary-like glands of the vulva: a concept unifying sweat gland carcinoma of the vulva, carcinoma of supernumerary mammary glands and extramammary Paget’s disease. J Cutan Pathol. 1994;21(2):157–63.

    Article  PubMed  Google Scholar 

  59. Obaidat NA, Alsaad KO, Ghazarian D. Skin adnexal neoplasms-part 2: an approach to tumours of cutaneous sweat glands. J Clin Pathol. 2007;60:145–59.

    Article  PubMed  Google Scholar 

  60. Fistarol S, Anliker M, Itin P. Cowden disease or multiple hamartoma syndrome – cutaneous clues to internal malignancy. Eur J Dermatol. 2002;12:412–21.

    Google Scholar 

  61. Salem O, Steck W. Cowden’s Disease (multiple hamartoma syndrome). A case report and review of the English literature. J Am Acad Dermatol. 1983;8:686–96. 10.

    Article  PubMed  CAS  Google Scholar 

  62. Starinck T, van der Veen J, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986;29:222–33.

    Article  Google Scholar 

  63. Ruhoy S, Thomas D, Nuovo G. Multiple inverted follicular keratoses as a presenting sign of Cowden’s syndrome: case report with human papillomavirus studies. J Am Acad Dermatol. 2004;51:411–5.

    Article  PubMed  Google Scholar 

  64. Pilarski R. Cowden’s syndrome: a critical review of the clinical literature. J Genet Couns. 2009;18:13–27.

    Article  PubMed  Google Scholar 

  65. Waite K, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002;70:829–44.

    Article  PubMed  CAS  Google Scholar 

  66. Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003; 22:183–98.

    Google Scholar 

  67. Squarize C, Castilho R, Gutkind J. Chemoprevention and treatment of experimental Cowden’s disease by mTOR inhibition with rapamycin. Cancer Res. 2008;68:7066–72.

    Article  PubMed  CAS  Google Scholar 

  68. Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005;12:980–7.

    Article  Google Scholar 

  69. Akhtar S, Oza K, Khan S, Wright J. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol. 1999;41:681–6.

    Article  PubMed  CAS  Google Scholar 

  70. Cohen P, Kohn S, Kurzrock R. Association of sebaceous gland and internal malignancy: the Muir-Torre syndrome. Am J Med. 1991;90:606–13.

    PubMed  CAS  Google Scholar 

  71. Kruse R, Rutten A, Lamberti C, et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair gene mutations similar to that in hereditary non-polyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet. 1998;63:63–70.

    Article  PubMed  CAS  Google Scholar 

  72. South C, Hampel H, Comeras I, Westman J, Frankel W, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008;100:277–81.

    Article  PubMed  CAS  Google Scholar 

  73. Levi Z, Hazazi R, Kedar-Barnes I, et al. Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome. Am J Transplant. 2007;7:476–9.

    Article  PubMed  CAS  Google Scholar 

  74. Gaskin BJ, Fernando BS, Sullivan CA, et al. The significance of DNA mismatch repair genes in the diagnosis and management of periocular sebaceous cell carcinoma and Muir-Torre syndrome. Br J Ophthalmol. 2011;95:1686–90.

    Article  PubMed  Google Scholar 

  75. Groen E, Roos A, Muntinghe F, et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol. 2008;15:2439–50.

    Article  PubMed  Google Scholar 

  76. Lipton L, Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam Cancer. 2006;5:221–6.

    Article  PubMed  CAS  Google Scholar 

  77. Goss K, Groden J. Biology of the adenomatous polyposis tumor suppressor gene. J Clin Oncol. 2000;18:1967–79.

    PubMed  CAS  Google Scholar 

  78. Lynch PM. Chemoprevention with special reference to inherited colorectal cancer. Fam Cancer. 2008;7:59–64.

    Article  PubMed  CAS  Google Scholar 

  79. Zbar B, Alvord W, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev. 2002;11:393–400.

    PubMed  Google Scholar 

  80. Adley B, Smith N, Nayar R, Yang X. Birt-Hogg-Dube’ syndrome. Clinicopathologic findings and genetic alterations. Arch Pathol Lab Med. 2006;130:1865–70.

    PubMed  Google Scholar 

  81. Leter E, Koopmans A, Gille JJ, et al. Birt-Hogg-Dube syndrome: clinical and genetic studies of 20 families. J Invest Dermatol. 2008;128:45–9.

    Article  PubMed  CAS  Google Scholar 

  82. Toro J, Wei M, Glenn G, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube’ syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45:321–31.

    Article  PubMed  CAS  Google Scholar 

  83. Warren M, Torres-Cabala C, Turner ML, et al. Expression of Birt- Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol. 2004;17:998–1011.

    Article  PubMed  CAS  Google Scholar 

  84. Hartman T, Nicolas E, Klein-Szanto A, et al. The role of the Birt-Hogg-Dube’ protein in mTOR activation and renal tumorigenesis. Oncogene. 2009;28:1594–604.

    Article  PubMed  CAS  Google Scholar 

  85. Baba M, Furihata M, Hong S, et al. Kidney-targeted Birt-Hogg-Dube’gene inactivation in a mouse model: Erk1⁄2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst. 2008;100:140–54.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Michele Caraglia MD, PhD .

Editor information

Editors and Affiliations

Glossary

APC

Adenomatous polyposis coli

BCC

Basal-cell carcinoma

BHDS

Birt–Hogg–Dube’ syndrome

CAT

Cutaneous appendage tumors

CHRPE

Congenital hypertrophy of the retinal pigment epithelium

CS

Cowden syndrome

CSG

Cutaneous sweat gland

CSGT

Cutaneous sweat gland tumours

FAP

Familial adenomatous polyposis

FLCN

Folliculin

GS

Gardner syndrome

H&E

Haematoxylin and eosin

MFT

Multiple familial tricoepithelioma

MLG

Mammary-like glands

MTS

Muir–Torre syndrome

NSJ

Nevus sebaceous of Jadassohn

PTC

Proliferating trichilemmal cyst

PTEN

Phosphatase and TENsin

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Franco, R. et al. (2014). Skin Adnexal Tumours: A Large Spectrum of Clinic-Pathological Lesions. In: Baldi, A., Pasquali, P., Spugnini, E. (eds) Skin Cancer. Current Clinical Pathology. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4614-7357-2_6

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-7357-2_6

  • Published:

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4614-7356-5

  • Online ISBN: 978-1-4614-7357-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics