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Hamartoma of skin appendage

MedGen UID:
224909
•Concept ID:
C1302712
•
Disease or Syndrome
Synonyms: cutaneous appendage hamartoma (disease); Hamartoma of Skin Appendage; hamartoma of skin appendage; Skin Appendage Hamartoma; skin appendage hamartoma
SNOMED CT: Hamartoma of skin appendage (399906000)
 
Monarch Initiative: MONDO:0021539

Definition

A hamartoma characterized by localized malformation of one or more of the skin appendages; including sweat glands, sebaceous glands, and hair follicles. [from NCI]

Recent clinical studies

Etiology

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Pithadia DJ, Roman JW, Sapp JC, Biesecker LG, Darling TN
J Am Acad Dermatol 2021 Feb;84(2):415-424. Epub 2020 Feb 7 doi: 10.1016/j.jaad.2020.01.078. PMID: 32035943Free PMC Article
Proliferative lesion of anogenital mammary-like glands in the setting of Cowden syndrome: case report and review of the literature.
Hedayat AA, Pettus JR, Marotti JD, Tafe LJ, Holubar SD, Lisovsky M
J Cutan Pathol 2016 Aug;43(8):707-10. Epub 2016 May 9 doi: 10.1111/cup.12721. PMID: 27090873
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS
Mod Pathol 2004 Aug;17(8):998-1011. doi: 10.1038/modpathol.3800152. PMID: 15143337
Malignant tumors associated with nevus sebaceous: therapeutic consequences.
Beer GM, Widder W, Cierpka K, Kompatscher P, Meyer VE
Aesthetic Plast Surg 1999 May-Jun;23(3):224-7. doi: 10.1007/s002669900272. PMID: 10384023

Diagnosis

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Pithadia DJ, Roman JW, Sapp JC, Biesecker LG, Darling TN
J Am Acad Dermatol 2021 Feb;84(2):415-424. Epub 2020 Feb 7 doi: 10.1016/j.jaad.2020.01.078. PMID: 32035943Free PMC Article
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma.
Llamas-Velasco M, Fraga J, Schaller J, Requena L, Daudén E, Rütten A
Am J Dermatopathol 2019 Oct;41(10):767-770. doi: 10.1097/DAD.0000000000001433. PMID: 31045870
Inherited skin tumour syndromes.
Brown S, Brennan P, Rajan N
Clin Med (Lond) 2017 Dec;17(6):562-567. doi: 10.7861/clinmedicine.17-6-562. PMID: 29196359Free PMC Article
Hybrid eccrine gland and hair follicle hamartoma: a new entity of adnexal nevus.
Luo DQ, Huang CZ, Xie WL, Xu FF, Mo LQ
Am J Dermatopathol 2015 Feb;37(2):167-70. doi: 10.1097/DAD.0000000000000040. PMID: 24335519
Adnexal tumours of the skin as markers of cancer-prone syndromes.
Kanitakis J
J Eur Acad Dermatol Venereol 2010 Apr;24(4):379-87. Epub 2009 Sep 10 doi: 10.1111/j.1468-3083.2009.03420.x. PMID: 19744258

Prognosis

Tumor-to-tumor metastases in Cowden's disease: an autopsy case report and review of the literature.
Matsumoto K, Nosaka K, Shiomi T, Matsuoka Y, Umekita Y
Diagn Pathol 2015 Sep 17;10:172. doi: 10.1186/s13000-015-0408-8. PMID: 26376867Free PMC Article
Hybrid eccrine gland and hair follicle hamartoma: a new entity of adnexal nevus.
Luo DQ, Huang CZ, Xie WL, Xu FF, Mo LQ
Am J Dermatopathol 2015 Feb;37(2):167-70. doi: 10.1097/DAD.0000000000000040. PMID: 24335519
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
Purandare SM, Ernst L, Medne L, Huff D, Zackai EH
Am J Med Genet A 2009 Aug;149A(8):1740-8. doi: 10.1002/ajmg.a.32716. PMID: 19606475
Ectopic hamartomatous thymoma: a case demonstrating skin adnexal differentiation with positivity for epithelial membrane antigen, androgen receptors, and BRST-2 by immunohistochemistry.
Weinreb I, O'Malley F, Ghazarian D
Hum Pathol 2007 Jul;38(7):1092-1095. doi: 10.1016/j.humpath.2007.01.029. PMID: 17574947
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS
Mod Pathol 2004 Aug;17(8):998-1011. doi: 10.1038/modpathol.3800152. PMID: 15143337

Clinical prediction guides

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Pithadia DJ, Roman JW, Sapp JC, Biesecker LG, Darling TN
J Am Acad Dermatol 2021 Feb;84(2):415-424. Epub 2020 Feb 7 doi: 10.1016/j.jaad.2020.01.078. PMID: 32035943Free PMC Article
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma.
Llamas-Velasco M, Fraga J, Schaller J, Requena L, Daudén E, Rütten A
Am J Dermatopathol 2019 Oct;41(10):767-770. doi: 10.1097/DAD.0000000000001433. PMID: 31045870
Hybrid eccrine gland and hair follicle hamartoma: a new entity of adnexal nevus.
Luo DQ, Huang CZ, Xie WL, Xu FF, Mo LQ
Am J Dermatopathol 2015 Feb;37(2):167-70. doi: 10.1097/DAD.0000000000000040. PMID: 24335519
Meningothelial proliferations in mature cystic teratoma of the ovary: evidence for the common presence of cranially derived tissues paralleling anterior embryonic plate development. An analysis of 25 consecutive cases.
Chen E, Fletcher CD, Nucci MR
Am J Surg Pathol 2010 Jul;34(7):1014-8. doi: 10.1097/PAS.0b013e3181e24f06. PMID: 20534997
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS
Mod Pathol 2004 Aug;17(8):998-1011. doi: 10.1038/modpathol.3800152. PMID: 15143337

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