Singh Gyanendra, Goswami Parth, Pathania Yashdeep, Pate Tarang
Department of Pathology, All India Institute of Medical Sciences, Rajkot, Gujarat, India.
Department of Dermatology, All India Institute of Medical Sciences, Rajkot, Gujarat, India.
J Family Med Prim Care. 2025 Mar;14(3):1125-1127. doi: 10.4103/jfmpc.jfmpc_1210_24. Epub 2025 Mar 25.
Acrokeratosis verruciformis of Hopf (AVH) is a rare dermatological disorder associated with keratotic lesions primarily on the dorsal surfaces of the hands and feet, caused by a missense mutation in the ATP2A2 gene. Here, we report the case of a 24-year-old woman presenting with multiple wart-like lesions on the hands, feet, and neck over four years. A V-shaped notch on the nails indicated nail dystrophy. The patient had no family history of similar symptoms and an unremarkable medical history. The histopathological examination of a skin biopsy revealed marked hyperkeratosis, acanthosis, papillomatosis, and church spire-like epidermal elevations, confirming the diagnosis of AVH. AVH poses diagnostic challenges due to its similarity to other conditions, such as seborrheic keratosis, lichen planus, and Darier disease. Despite resource limitations precluding genetic testing, thorough clinical and histopathological evaluations were crucial for accurate diagnosis. This case underscores the importance of awareness and documentation of AVH, particularly in nonfamilial cases, to facilitate early recognition and management. Increased vigilance among dermatologists is essential to prevent misdiagnosis and to manage this rare condition effectively.
霍普夫疣状肢端角化病(AVH)是一种罕见的皮肤病,主要表现为手足背部的角化性病变,由ATP2A2基因的错义突变引起。在此,我们报告一例24岁女性,4年来双手、双足及颈部出现多个疣状病变。指甲上的V形切迹提示甲营养不良。该患者无类似症状的家族史,病史无异常。皮肤活检的组织病理学检查显示明显的角化过度、棘层肥厚、乳头瘤样增生以及教堂尖顶样表皮隆起,确诊为AVH。由于AVH与脂溢性角化病、扁平苔藓和达里埃病等其他疾病相似,因此在诊断上具有挑战性。尽管资源有限无法进行基因检测,但全面的临床和组织病理学评估对于准确诊断至关重要。该病例强调了认识和记录AVH的重要性,特别是在非家族性病例中,以便于早期识别和管理。皮肤科医生提高警惕对于防止误诊和有效管理这种罕见疾病至关重要。