Wang Maxwell D, Bresler Scott C, Chan May P, Patel Rajiv M, Chapel David B
Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Department of Cutaneous Pathology, WCP Laboratories, Inc., Maryland Heights, Missouri.
Int J Gynecol Pathol. 2025 Mar 1;44(2):112-119. doi: 10.1097/PGP.0000000000001066. Epub 2024 Aug 12.
The vulva and perineum are rarely involved by acantholytic dyskeratoses, including Hailey-Hailey disease, Darier disease, papular acantholytic dyskeratosis of the genitocrural area, acantholytic dyskeratotic acanthoma, and warty dyskeratoma. These entities show broad histomorphologic overlap, generally requiring clinical correlation for definitive classification. This institutional series aims to better characterize vulvar acantholytic dyskeratoses and provide a practical literature review and diagnostic aid for gynecologic pathologists. Our institutional archives contained 16 vulvar acantholytic dyskeratoses diagnosed between 1990 and 2023. Affected patients were 36 to 79 (mean, 58) years old and presented with one or more asymptomatic (n = 9) or pruritic (n = 6) lesions involving the vulva (predominantly the labia majora), with additional perineal involvement in 2. Four patients have known Hailey-Hailey disease. Eleven cases comprised singular, raised, erythematous, or skin-colored papules, measuring 0.2 to 0.6 (mean, 0.3) cm. Two patients had oligofocal (both with known Hailey-Hailey disease) vulvar lesions, and 2 had multifocal vulvar lesions (one with known Hailey-Hailey disease). Histologically, all showed acantholysis and dyskeratoses (abundant in 8, focal in 8, with corps ronds generally more conspicuous than corps grains). Additional features included suprabasal clefting (n = 14), dermal papillomatosis (n = 12), and acanthosis (n = 8). Adnexal involvement was rare (n = 1). No histologic features reliably distinguished sporadic versus syndromic acantholytic dyskeratoses. Sporadic lesions were cured by local excision. Patients with Hailey-Hailey disease were variably responsive to corticosteroids. Neither our series nor the literature indicate a significant correlation between sporadic or syndromic acantholytic dyskeratosis and squamous cell carcinoma. Important differential diagnoses include pemphigus vulgaris and pemphigus vegetans, for which direct immunofluorescence may be performed, when indicated.
棘层松解性角化不良（包括海利-海利病、达里埃病、生殖股区丘疹性棘层松解性角化不良、棘层松解性角化不良性棘皮瘤和疣状角化不良瘤）很少累及外阴和会阴。这些病变在组织形态学上有广泛重叠，通常需要结合临床进行明确分类。本机构研究系列旨在更好地描述外阴棘层松解性角化不良，并为妇科病理学家提供实用的文献综述和诊断辅助。我们机构的档案中包含1990年至2023年间诊断的16例外阴棘层松解性角化不良病例。受影响患者年龄在36至79岁（平均58岁）之间，表现为一个或多个无症状（9例）或瘙痒性（6例）病变，累及外阴（主要为大阴唇），2例伴有会阴受累。4例患者患有已知的海利-海利病。11例为单发、隆起、红斑或肤色丘疹，大小为0.2至0.6厘米（平均0.3厘米）。2例患者有寡灶性外阴病变（均患有已知的海利-海利病），2例有多灶性外阴病变（1例患有已知的海利-海利病）。组织学上，所有病例均显示棘层松解和角化不良（8例丰富，8例局灶性，圆体细胞通常比谷粒细胞更明显）。其他特征包括基底层上裂隙（14例）、真皮乳头瘤病（12例）和棘层肥厚（8例）。附属器受累罕见（1例）。没有组织学特征能可靠地区分散发性与综合征性棘层松解性角化不良。散发性病变通过局部切除治愈。海利-海利病患者对皮质类固醇的反应各不相同。我们的系列研究和文献均未表明散发性或综合征性棘层松解性角化不良与鳞状细胞癌之间存在显著相关性。重要的鉴别诊断包括寻常型天疱疮和增殖性天疱疮，必要时可进行直接免疫荧光检查。
