Gonzalez Jessica L, Plotnikova Natalia, Seymour Andrew, Mannion Ciaran M, Danialan Richard, Rosmarin David
Department of Dermatology, Tufts Medical Center, Boston, MA, USA.
Department of Dermatopathology, Miraca Life Sciences, Newton, MA, USA.
J Cutan Pathol. 2017 Jan;44(1):93-97. doi: 10.1111/cup.12825. Epub 2016 Oct 21.
Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth. A shave biopsy confirmed the diagnosis of trichilemmoma with focal desmoplastic features (or desmoplastic trichilemmoma). A PTEN immunohistochemical study showed patchy (but not complete) loss of staining of the lesional cells. After shave removal, the trichilemmomas recurred 1-2 months later.
毛发上皮瘤是源自毛囊外根鞘的良性皮肤增生。它们最常发生于头颈部区域，且女性更为多见。当出现多发性毛发上皮瘤时，与考登综合征（CS）相关，考登综合征是一种罕见疾病，由肿瘤抑制基因PTEN（第10号染色体上的磷酸酶和张力蛋白同源物）的常染色体显性种系突变引起。头颈部区域以外的毛发上皮瘤较为罕见，因此，其与考登综合征的关联尚不清楚。一名28岁、无明显癌症家族史的健康女性因出生时起左前踝部出现多发性红斑丘疹，前往皮肤科就诊。削切活检确诊为具有局灶性促纤维增生性特征的毛发上皮瘤（或促纤维增生性毛发上皮瘤）。PTEN免疫组化研究显示病变细胞染色呈斑片状（但不完全）缺失。削切切除后，毛发上皮瘤在术后1 - 2个月复发。
