Khatija Begum Mohammed, Vijayashree Jami, Bathina Aruna, Gullipalli Pallavi
Dermatology, Venereology and Leprosy, Great Eastern Medical School And Hospital, Srikakulam, IND.
Dermatology, Venereology and Leprosy, Great Eastern Medical School and Hospital, Srikakulam, IND.
Cureus. 2025 Mar 6;17(3):e80135. doi: 10.7759/cureus.80135. eCollection 2025 Mar.
Aplasia cutis congenita is a rare condition characterized by a localized or widespread, complete or partial absence of skin at birth. In accordance with the pattern, location, underlying causes, and anomalies, Frieden divided aplasia cutis congenita into nine types. Approximately 80% of all lesions are found on the scalp. The purpose of this study is to describe uncommon instances of aplasia cutis congenita and how they are treated.
Our study comprises six patients with aplasia cutis congenita belonging to either sex who attended to our dermatology outpatient department at Great Eastern Medical School and Hospital, Srikakulam during the 12-month study period from December 2023 to December 2024. This study was started after obtaining institutional ethical clearance. Patients with traumatic injuries were excluded from the study. All patients with congenital aplasia cutis were included in this study. All patients were treated with recombinant human platelet derived growth factor gel and hydrocolloid dressings for two weeks and a response was elicited.
We have encountered six newborns with aplasia cutis congenita in our study, out of which four (80%) were having aplasia cutis congenita of scalp (Group I) with no other congenital anomalies, fifth case (10%) was aplasia cutis congenita with epidermolysis bullosa and dystrophic nails (Group VI - Bart syndrome) and the sixth one (10%) had aplasia cutis congenita on lower extremities without epidermolysis bullosa (Group VII). One of the newborns was born to the mother who was taking methimazole in the first six weeks of gestation. Out of six, five babies had no consanguineous background, while one was born to parents with second-degree consanguinity. Most common site involved was the parietal region of the scalp (80%). The smallest lesion measured 0.5x0.5 cm, while the largest was 5x3x1 cm. All the lesions showed noticeable improvement after treatment with recombinant human platelet derived growth factor 0.01% gel twice daily along with hydrocolloid dressings for two weeks.
Aplasia cutis congenita, being a rare disorder with less incidence is clinically diagnosed and needs to be carefully evaluated for underlying etiologies alongside other congenital anomalies co-existing with it for better management. To conclude with, our study throws a light on conservative management of aplasia cutis congenita which gave promising results minimizing complications of surgical management.
先天性皮肤发育不全是一种罕见病症，其特征为出生时局部或广泛、完全或部分皮肤缺失。根据其模式、位置、潜在病因及异常情况，弗里登将先天性皮肤发育不全分为九种类型。约80%的所有病变见于头皮。本研究的目的是描述先天性皮肤发育不全的罕见病例及其治疗方法。
我们的研究包括六例先天性皮肤发育不全患者，性别不限，在2023年12月至2024年12月的12个月研究期间，他们在斯里卡库拉姆大东方医学院和医院的皮肤科门诊就诊。本研究在获得机构伦理批准后启动。有创伤性损伤的患者被排除在研究之外。所有先天性皮肤发育不全患者均纳入本研究。所有患者均接受重组人血小板衍生生长因子凝胶和水胶体敷料治疗两周，并观察疗效。
我们的研究中遇到了六例先天性皮肤发育不全的新生儿，其中四例（80%）为头皮先天性皮肤发育不全（第一组），无其他先天性异常；第五例（10%）为先天性皮肤发育不全合并大疱性表皮松解症和营养不良性指甲（第六组 - 巴特综合征）；第六例（10%）下肢先天性皮肤发育不全，无大疱性表皮松解症（第七组）。其中一名新生儿的母亲在妊娠前六周服用了甲巯咪唑。六名婴儿中，五名无近亲背景，一名为二级近亲父母所生。最常受累的部位是头皮顶叶区域（80%）。最小的病变尺寸为0.5×0.5厘米，最大的为5×3×1厘米。所有病变在每日两次外用0.01%重组人血小板衍生生长因子凝胶并联合水胶体敷料治疗两周后均有明显改善。
先天性皮肤发育不全是一种发病率较低的罕见疾病，需临床诊断，并需仔细评估其潜在病因以及与之共存的其他先天性异常，以便更好地进行管理。总之，我们的研究揭示了先天性皮肤发育不全的保守治疗方法，该方法取得了有前景的结果，将手术治疗的并发症降至最低。
