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Basaloid Follicular Hamartoma Clinical Presentation

  • Author: Kara Melissa T Torres, MD, DPDS; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 06, 2015
 

History

In general, basaloid follicular hamartoma (BFH) lesions are asymptomatic small papules that remain stable for many years.[22] In hereditary basaloid follicular hamartoma, the lesions may gradually increase in size throughout childhood and then stabilize and become static upon reaching adulthood.[9, 31]

Generalized basaloid follicular hamartoma syndrome (GBFHS) is most commonly associated with alopecia and myasthenia gravis.[2, 35] Other associations reported with the syndrome are systemic lupus erythematosus (SLE),[2] cystic fibrosis,[4] and chondrosarcoma.[11]

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Physical

The skin lesions of basaloid follicular hamartoma (BFH) may present as macules, papules, nodules, plaques, or skin tags.[2, 9, 36]

Hereditary basaloid follicular hamartoma

Lesions most often manifest on the face and scalp. The lesions also commonly develop diffusely on the skin of the neck, back, chest, and extremities.[9] Patients may have few to hundreds of lesions. Most commonly, they appear as 1- to 2-mm flesh-colored papules. However, hyperpigmented or hypopigmented lesions are not uncommon.[9, 22] Palmar pitting has been documented in some cases of hereditary basaloid follicular hamartoma.[9, 22, 37]

Additional clinical features associated with generalized basaloid follicular hamartoma syndrome (GBFHS), especially those with no systemic affection, include milia and comedonelike papules,[14] hypohidrosis,[35] alopecia or hypotrichosis, and dermatosis papulosa nigra–like growths.[9] Generalized basaloid follicular hamartoma syndrome has also been reportedly associated in a patient with acrochordons, seborrheic keratoses, and a history of chondrosarcoma.[11]

Linear unilateral basaloid follicular hamartoma (LUBFH) displays multiple flesh-colored to pigmented lesions in a linear, bandlike pattern running along the lines of Blaschko.[2] In their early stages, the lesions may be hypopigmented, smooth, and striaelike. Lesional skin in an atypical case of linear unilateral basaloid follicular hamartoma was described as an atrophic, depressed patch.[32] A patient with linear unilateral basaloid follicular hamartoma with an unusual and extensive proliferation of trichoblastoma has also been reported.[38]

Acquired basaloid follicular hamartoma

The papules or plaques of basaloid follicular hamartoma are found on the eyelids, face, and scalp.[30, 39] The lesions may range from 0.1 cm to 3 cm. They may appear hypopigmented, hyperpigmented, or flesh colored. Hypotrichosis or alopecia may develop at sites of solitary basaloid follicular hamartoma. A case of a localized basaloid follicular hamartoma arising in an epithelioid blue nevus has been reported.[40]

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Causes

No gene defect that confers specific increased susceptibility to basaloid follicular hamartoma (BFH) for the hereditary or acquired forms has been identified.[8, 9, 22, 30, 37]

Linear unilateral basaloid follicular hamartoma (LUBFH) is believed to be caused by a postzygotic, somatic mutation during embryogenesis in an as-yet unidentified gene. This gene defect would therefore be present only in cells derived from the precursor cell that acquired the mutation, accounting for the mosaic, linear, and unilateral pattern following the lines of Blaschko.[32]

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Contributor Information and Disclosures
Author

Kara Melissa T Torres, MD, DPDS Visiting Research Fellow, Ackerman Academy of Dermatopathology

Kara Melissa T Torres, MD, DPDS is a member of the following medical societies: Philippine Dermatological Society

Disclosure: Nothing to disclose.

Coauthor(s)

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD Herman Beerman Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society of Dermatopathology, Pennsylvania Academy of Dermatology

Disclosure: Received royalty from Lippincott Williams Wilkins for textbook editor.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Neil Shear, MD Professor and Chief of Dermatology, Professor of Medicine, Pediatrics and Pharmacology, University of Toronto Faculty of Medicine; Head of Dermatology, Sunnybrook Women's College Health Sciences Center and Women's College Hospital, Canada

Neil Shear, MD is a member of the following medical societies: Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Canadian Dermatology Association, American Academy of Dermatology, American Society for Clinical Pharmacology and Therapeutics

Disclosure: Nothing to disclose.

Acknowledgements

Anand Bansal, RPh University of Medicine and Dentistry of New Jersey School of Osteopathic Medicine

Disclosure: Nothing to disclose. Steven S Fakharzadeh, MD, PhD Associate Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Steven S Fakharzadeh, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Society of Human Genetics, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

John T Seykora, MD, PhD Associate Professor, Department of Dermatology and Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine

John T Seykora, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Association for the Advancement of Science, American Society for Biochemistry and Molecular Biology, American Society of Dermatopathology, Dermatology Foundation, Phi Beta Kappa, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

References
  1. Honarpisheh H, Glusac EJ, Ko CJ. Cytokeratin 20 expression in basaloid follicular hamartoma and infundibulocystic basal cell carcinoma. J Cutan Pathol. 2014 Dec. 41(12):916-21. [Medline].

  2. El-Darouti MA, Marzouk SA, Abdel-Halim MR, Zidan AZ, Fawzy MM. Basaloid follicular hamartoma. Int J Dermatol. 2005 May. 44(5):361-5. [Medline].

  3. Akasaka T, Kon S, Mihm MC Jr. Multiple basaloid cell hamartoma with alopecia and autoimmune disease (systemic lupus erythematosus). J Dermatol. 1996 Nov. 23(11):821-4. [Medline].

  4. Mascaró JM Jr, Ferrando J, Bombí JA, Lambruschini N, Mascaró JM. Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings. Arch Dermatol. 1995 Apr. 131(4):454-8. [Medline].

  5. Brown AC, Crounse RG, Winkelmann RK. Generalized hair-follicle hamartoma, associated with alopecia, aminoacidura, and myasthenia gravis. Arch Dermatol. 1969 Apr. 99(4):478-93. [Medline].

  6. Yébenes M, Toll A, Vélez M, Barranco C, Alonso-López NA, Gonzalez-Sarmiento R, et al. Linear unilateral hamartomatous basal cell naevus with glandular and follicular differentiation. Clin Exp Dermatol. 2008 Jul. 33(4):429-32. [Medline].

  7. Boccaletti V, Accorsi P, Pinelli L, Ungari M, Giordano L, Neri I, et al. Congenital systematized basaloid follicular hamartoma with microphthalmia and hemimegalencephaly. Pediatr Dermatol. 2011 Sep-Oct. 28(5):555-60. [Medline].

  8. Girardi M, Federman GL, McNiff JM. Familial multiple basaloid follicular hamartomas: A report of two affected sisters. Pediatr Dermatol. 1999 Jul-Aug. 16(4):281-4. [Medline].

  9. Wheeler CE Jr, Carroll MA, Groben PA, Briggaman RA, Prose NS, Davis DA. Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. J Am Acad Dermatol. 2000 Aug. 43(2 Pt 1):189-206. [Medline].

  10. Waxweiler WT, Adigun CG, Groben P, Rubenstein DS. A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. J Am Acad Dermatol. 2011 Jul. 65(1):e17-9. [Medline].

  11. Ricks M, Elston DM, Sartori CR. Multiple basaloid follicular hamartomas associated with acrochordons, seborrhoeic keratoses and chondrosarcoma. Br J Dermatol. 2002 Jun. 146(6):1068-70. [Medline].

  12. Lo CS, Wu YF, Hsiao YW, Chung WH, Yang CH. Unilateral segmentally arranged basaloid follicular hamartomas with osteoma cutis and hypodontia: a case of Happle-Tinschert syndrome. Clin Exp Dermatol. 2013 Dec. 38(8):862-5. [Medline].

  13. Özgur A, Çabuk G, Arpaci R, Baz K, Katar D. Happle-Tinschert syndrome: report of a case with hemimegalencephaly. Korean J Radiol. 2014 Jul-Aug. 15(4):534-7. [Medline]. [Full Text].

  14. Katayama I, Hirayama M, Eishi K. Basaloid follicular hamartoma with eruptive milia and hypohidrosis: is there a pathogenic relationship ?. Eur J Dermatol. 2003 Sep-Oct. 13(5):505-8. [Medline].

  15. Shimizu H, Takai T, Ichihashi M, Ueda M. A case of generalized hair follicle hamartoma associated with diffuse sclerosis of the face. Br J Dermatol. 2000 Nov. 143(5):1103-5. [Medline].

  16. Broberg A, Gisslen H. Genralized basaloid follicular hamartoma: a case report. Eur J Dermatol. 1992. 2:85-7.

  17. Nelson BR, Johnson TM, Waldinger T, Gillard M, Lowe L. Basaloid follicular hamartoma: a histologic diagnosis with diverse clinical presentations. Arch Dermatol. 1993 Jul. 129(7):915-7. [Medline].

  18. Morohashi M, Sakamoto F, Takenouchi T, Hashimoto T, Tago O, Ito M. A case of localized follicular hamartoma: an ultrastructural and immunohistochemical study. J Cutan Pathol. 2000 Apr. 27(4):191-8. [Medline].

  19. Mills O, Thomas LB. Basaloid follicular hamartoma. Arch Pathol Lab Med. 2010 Aug. 134(8):1215-9. [Medline].

  20. Grachtchouk V, Grachtchouk M, Lowe L, Johnson T, Wei L, Wang A, et al. The magnitude of hedgehog signaling activity defines skin tumor phenotype. EMBO J. 2003 Jun 2. 22(11):2741-51. [Medline].

  21. Smith KJ, Skelton H. Basaloid follicular hamartomas associated with autoimmune disease: a possible role for retinoids in therapy. J Am Acad Dermatol. 2003 Dec. 49(6):1067-70. [Medline].

  22. Jih DM, Shapiro M, James WD, Levin M, Gelfand J, Williams PT, et al. Familial basaloid follicular hamartoma: lesional characterization and review of the literature. Am J Dermatopathol. 2003 Apr. 25(2):130-7. [Medline].

  23. Akasaka T, Kon S. Two cases of basal cell carcinoma arising in seborrheic keratosis. J Dermatol. 1997 May. 24(5):322-7. [Medline].

  24. Jiménez-Acosta FJ, Redondo E, Baez O, Hernandez B. Linear unilateral basaloid follicular hamartoma. J Am Acad Dermatol. 1992 Aug. 27(2 Pt 2):316-9. [Medline].

  25. Ridley CM, Smith N. Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case. Clin Exp Dermatol. 1981 May. 6(3):283-9. [Medline].

  26. Starink TM, Lane EB, Meijer CJ. Generalized trichoepitheliomas with alopecia and myasthenia gravis: clinicopathologic and immunohistochemical study and comparison with classic and desmoplastic trichoepithelioma. J Am Acad Dermatol. 1986 Nov. 15(5 Pt 2):1104-12. [Medline].

  27. Weltfriend S, David M, Ginzburg A, Sandbank M. Generalized hair follicle hamartoma: the third case report in association with myasthenia gravis. Am J Dermatopathol. 1987 Oct. 9(5):428-32. [Medline].

  28. Morton S, Stevens A, Powell RJ. Basaloid follicular hamartoma, total body hair loss and SLE. Lupus. 1998. 7(3):207-9. [Medline].

  29. Tsuru K, Ohashi A, Ueda M. A case of generalized hair follicle hamartoma associated with systemic lupus erythematosus. J Dermatol. 2004 Jul. 31(7):573-6. [Medline].

  30. Brownstein MH. Basaloid follicular hamartoma: solitary and multiple types. J Am Acad Dermatol. 1992 Aug. 27(2 Pt 1):237-40. [Medline].

  31. Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet. 2005 Nov. 42(11):811-9. [Medline].

  32. Lee MW, Choi JH, Moon KC, Koh JK. Linear basaloid follicular hamartoma on the Blaschko's line of the face. Clin Exp Dermatol. 2005 Jan. 30(1):30-4. [Medline].

  33. Harman M, Inaloz HS, Akdeniz S, Inalöz SS, Aslan A. Congenital non-familial unilateral basaloid follicular hamartoma. J Eur Acad Dermatol Venereol. 1999 Nov. 13(3):210-3. [Medline].

  34. Shumaker PR, Lane K, Harford R. Linear unilateral basal cell nevus: a benign follicular hamartoma simulating multiple basal cell carcinomas. Cutis. 2006 Aug. 78(2):122-4. [Medline].

  35. Go JW, Oh HE, Cho HK, Kang WH, Ro BI. A case of basaloid follicular hamartoma. Ann Dermatol. 2010 May. 22(2):229-31. [Medline]. [Full Text].

  36. Toyoda M, Kagoura M, Morohashi M. Solitary basaloid follicular hamartoma. J Dermatol. 1998 Jul. 25(7):434-7. [Medline].

  37. Lee PL, Lourduraj LT, Palko MJ 3rd, Jukic DM, English JC 3rd. Hereditary basaloid follicular hamartoma syndrome. Cutis. 2006 Jul. 78(1):42-6. [Medline].

  38. Kaiser A, Spence RJ, Parwani A, Tihan T, Barrett TL. Basaloid follicular hamartoma with trichoblastomatous proliferations. J Cutan Med Surg. 2003 Sep-Oct. 7(5):395-8. [Medline].

  39. Jakobiec FA, Zakka FR, Kim N. Basaloid follicular hamartoma of the eyelid. Ophthal Plast Reconstr Surg. 2012 Sep-Oct. 28(5):e127-30. [Medline].

  40. Mauleón C, Valdivielso M, Chavarría E, Hernanz JM, Casado I. [Simultaneous presentation of localized basaloid follicular hamartoma and epithelioid blue nevus in a 44-year-old patient]. Actas Dermosifiliogr. 2011 Apr. 102(3):233-5. [Medline].

  41. Hellani A, Baghdadi H, Dabbour N, Almassri N, Abu-Amero KK. A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. J Med Case Rep. 2009 Feb 9. 3:52. [Medline]. [Full Text].

  42. Requena L, Farina MC, Robledo M, Sangueza OP, Sanchez E, Villanueva A, et al. Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. Arch Dermatol. 1999 Oct. 135(10):1227-35. [Medline].

  43. Naeyaert JM, Pauwels C, Geerts ML, Verplancke P. CD-34 and Ki-67 staining patterns of basaloid follicular hamartoma are different from those in fibroepithelioma of Pinkus and other variants of basal cell carcinoma. J Cutan Pathol. 2001 Nov. 28(10):538-41. [Medline].

  44. Ramos-Ceballos FI, Pashaei S, Kincannon JM, Morgan MB, Smoller BR. Bcl-2, CD34 and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and neurofollicular hamartoma demonstrate full follicular differentiation. J Cutan Pathol. 2008 May. 35(5):477-83. [Medline].

  45. Mateoiu C, Pirici A, Bogdan F. Immunohistochemical nuclear staining for p53, PCNA, Ki-67 and bcl-2 in different histologic variants of basal cell carcinoma. Rom J Morphol Embryol. 2011. 52(1 Suppl):315-9. [Medline].

  46. Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, et al. Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol. 2005 Jan. 141(1):60-7. [Medline].

  47. Yoshida Y, Urabe K, Mashino T, Duan H, Kiryu H, Masuda T, et al. Basal cell carcinomas in association with basaloid follicular hamartoma. Dermatology. 2003. 207(1):57-60. [Medline].

  48. Gumaste P, Ortiz AE, Patel A, Baron J, Harris R, Barr R. Generalized Basaloid Follicular Hamartoma Syndrome: A Case Report and Review of the Literature. Am J Dermatopathol. 2014 Apr 2. [Medline].

 
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