Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy

Renee K Eng , Ahmed Shehabeldin , Megan Ketcham , Parul Shah , Seema Mullick , Jae Y Ro

Case Reports in Clinical Pathology ›› 2020, Vol. 7 ›› Issue (1) : 34 -39.

PDF (731KB)
Case Reports in Clinical Pathology ›› 2020, Vol. 7 ›› Issue (1) :34 -39. DOI: 10.5430/crcp.v7n1p34
CASE STUDIES
research-article

Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy

Author information +
History +
PDF (731KB)

Abstract

Pilomatricoma is a relatively uncommon benign tumor derived from the matrix of hair follicles. Multiple pilomatricomas may arise sporadically or in association with other disease entities. These entities include myotonic dystrophy type-1, a multisystem disorder that confers increased susceptibility to developing neoplasms, as well as familial adenomatous polyposis-related syndromes (including Gardner syndrome) and others. Here we present two case reports of multiple pilomatricomas that were initially misidentified clinically. We discuss pilomatricoma as a differential diagnosis of multiple skin nodules, its association with myotonic dystrophy in one of two patients, and describe its distinguishing microscopic features. We emphasize the importance of screening patients with multiple pilomatricomas for various syndromes that predispose to malignancy.

Keywords

Pilomatricoma / Pilomatrixoma / Multiple / Myotonic dystrophy / Recurrent / Head and neck

Cite this article

Download citation ▾
Renee K Eng, Ahmed Shehabeldin, Megan Ketcham, Parul Shah, Seema Mullick, Jae Y Ro. Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy. Case Reports in Clinical Pathology, 2020, 7(1): 34-39 DOI:10.5430/crcp.v7n1p34

登录浏览全文

4963

注册一个新账户 忘记密码

CONFLICTS OF INTEREST DISCLOSURE

We declare that we have no conflict interests.

References

[1]

Çevik HB, Erkan M, Kayahan S, et al. A skin tumor from an orthopedic oncology perspective: Pilomatrixoma in extremities (11 years experience with 108 cases). Dermatol Ther. 2019 Sep; 32(5): e13004. PMid:31241214. https://doi.org/10.1111/dth.13004

[2]

Guinot-Moya R, Valmaseda-Castellon E, Berini-Aytes L, et al. Pilomatrixoma. Review of 205 cases. Med Oral Patol Oral Cir Bucal. 2011 Jul 1; 16(4): e552-5. PMid:20711110. https://doi.org/10.4317/medoral.16.e552

[3]

Pirouzmanesh A, Reinisch JF, Gonzalez-Gomez I, et al. Pilomatrixoma: a review of 346 cases. Plast Reconstr Surg. 2003 Dec; 112(7): 1784-9. PMid:14663221. https://doi.org/10.1097/01.PRS.0000091160.54278.64

[4]

Ciriacks K, Knabel D, Waite MB. Syndromes associated with multiple pilomatricomas: When should clinicians be concerned? Pediatr Dermatol. 2020 Jan; 37(1): 9-17. PMid:31618803. https://doi.org/10.1111/pde.13947

[5]

Símula S, Ozuna PV, Otero J, et al. Polyomavirus-induced pilomatricomas in mice: from viral inoculation to tumour development. APMIS. 2012 May; 120(5): 397-404. PMid:22515294. https://doi.org/10.1111/j.1600-0463.2011.02839.x

[6]

Sanjuán NA, Símula S, Casas J, et al. Detection of polyomavirus major capsid antigen (VP-1) in human pilomatricomas. Medicina (B Aires). 2010; 70(2): 159-62. PMid: 20447899.

[7]

Kajino Y, Yamaguchi A, Hashimoto N, et al. ß-Catenin gene mutation in human hair follicle-related tumors. Pathol Int. 2001 Jul; 51(7): 543-8. PMid:11472567. https://doi.org/10.1046/j.1440-1827.2001.01231.x

[8]

Gat U, DasGupta R, Degenstein L, et al. De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated betacatenin in skin. Cell. 1998 Nov 25; 95(5): 605-14.PMid: 9845363. https://doi.org/10.1016/S0092-8674(00)81631-1

[9]

Chan EF. Pilomatricomas contain activating mutations in beta-catenin. J Am Acad Dermatol. 2000 Oct; 43(4): 701-2. PMid: 11004631. https://doi.org/10.1016/S0190-9622(00)70339-2

[10]

Hashimoto K, Nelson RG, Lever WF. Calcifying epithelioma of Malherbe. Histochemical and electron microscopic studies. J Invest Dermatol. 1966 Apr; 46(4): 391-408. PMid:5936043. https://doi.org/10.1038/jid.1966.59

[11]

Hawkins DB, Chen WT. Pilomatrixoma of the head and neck in children. Int J Pediatr Otorhinolaryngol. 1985 Mar; 8(3): 215-23. PMid: 3997377. https://doi.org/10.1016/S0165-5876(85)80082-3

[12]

Jones C, Twoon M, Ho W, et al. Pilomatrix carcinoma: 12-year experience and review of the literature. J Cutan Pathol. 2018 Jan; 45(1): 33-38. Epub 2017 Oct 18. PMid: 28914451. https://doi.org/10.1111/cup.13046

[13]

Tselis N, Heyd R, Vogt HG, et al. Pilomatrix carcinoma with lymph node and pulmonary metastases. Strahlenther Onkol. 2006 Dec; 182(12): 727-32. PMid: 17149580. https://doi.org/10.1007/s00066-006-1600-2

[14]

Mueller CM, Hilbert JE, Martens W, et al. Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control. 2009 Dec; 20(10): 2009-20. PMid: 19642006. https://doi.org/10.1007/s10552-009-9395-y

[15]

Justice RW, Zilian O, Woods DF, et al. The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes Dev. 1995 Mar 1; 9(5): 534-46. PMid:7698644. https://doi.org/10.1101/gad.9.5.534

PDF (731KB)

128

Accesses

0

Citation

Detail

Sections
Recommended

/