Zulli Andrea, Martin Alessandra, Facchini Flavio, Coletta Riccardo, Tamburini Angela, Oranges Teresa, Filippeschi Cesare, Bassi Andrea, Buccoliero Anna Maria, Morabito Antonino
Department of Pediatric Surgery, Meyer Children's Hospital, 50139 Florence, Italy.
Department of Hematology-Oncology, Meyer Children's Hospital, 50139 Florence, Italy.
Children (Basel). 2022 Feb 21;9(2):292. doi: 10.3390/children9020292.
Primary cutaneous adenoid-cystic carcinoma (PCACC) is a rare malignant tumour reported in only about 450 cases in the literature, with only two adolescent cases reported. PCACC seems to occur between the fifth and seventh decade of life, and the most frequent regions involved are head and neck (46%). Aplasia cutis congenita (ACC) has an incidence of 1:10,000, and it seems to be rarely associated with neoplastic lesions. Interestingly, the association between PCACC and ACC has, so far, never been described.
We report a case of PCACC in the scalp associated with ACC in a four-year-old patient.
The patient was under follow-up at the dermatology unit, but suddenly a red lesion appeared within the ACC. This red, ulcerated area increased rapidly over six months, so it was surgically removed, and the pathological examination results were suggestive for cribriform PCACC. According to the guidelines for skin tumours, the patient underwent widening resection, and an advancement-sliding skin flap was performed to recreate the scalp. After one year of follow-up, the patient has no local or widespread recurrence of the PCACC, and the surgical scar appears to have healed well.
This clinical case is the first known patient with PCACC associated with ACC. A skin excision biopsy should be performed with wide margins to avoid a second widening resection of skin in a similar scenario. Genetic studies may help to identify the origin of this rare association.
原发性皮肤腺样囊性癌（PCACC）是一种罕见的恶性肿瘤，文献中仅报道了约450例，其中仅有两例为青少年病例。PCACC似乎好发于50至70岁之间，最常累及的部位是头颈部（46%）。先天性皮肤发育不全（ACC）的发病率为1:10000，似乎很少与肿瘤性病变相关。有趣的是，迄今为止，PCACC与ACC之间的关联从未被描述过。
我们报告了一例4岁患者头皮部PCACC合并ACC的病例。
该患者在皮肤科接受随访，但ACC内突然出现一个红色病变。这个红色溃疡区域在6个月内迅速增大，因此进行了手术切除，病理检查结果提示筛状PCACC。根据皮肤肿瘤治疗指南，患者接受了扩大切除，并采用推进-滑行皮瓣修复头皮。经过一年的随访，患者的PCACC没有局部或广泛复发，手术瘢痕愈合良好。
该临床病例是首例已知的PCACC合并ACC患者。应进行宽切缘的皮肤切除活检，以避免在类似情况下再次进行皮肤扩大切除。基因研究可能有助于确定这种罕见关联的起源。
