新生儿色素失禁症1例并文献复习
A Case of Neonatal Pigment Incontinence Syndrome and Literature Review
DOI: 10.12677/acm.2025.151282, PDF,   
作者: 周 玲, 杨 阳*：贵州中医药大学第一临床医学院，贵州 贵阳
关键词: 色素失禁症；新生儿；病例报告；文献复习；Ichthyosis； Neonatal； Case Report； Literature Review
摘要: 患儿，女，10余天。因出生后全身皮疹10余天就诊。体格检查：躯干可见散在红斑，其上可见水疱。四肢可见呈线状分布红斑，其上可见水疱、脓疱及黄痂、鳞屑。组织病理示：表层皮肤组织表皮角化不全，棘层细胞松解，角质层及表皮内见较多嗜酸性粒细胞浸润，基底层液化变形，上皮角向下延伸，真皮层小血管周见较多炎性细胞水(含淋巴细胞及嗜酸性粒细胞)浸润，符合色素失禁症。诊断：新生儿色素失禁症。
Abstract: Patient, female, 10 days old, she was taken to the hospital 10 days after birth due to a rash all over her body. Physical examination: Scattered red spots were visible on the torso, and blisters were visible on them. Red spots in a linear distribution were visible on the limbs, and blisters, pustules, yellow scabs and scales were visible on them. Histopathology showed that epidermal keratinization was incomplete in the superficial skin tissue, the cells in the spinous layer were loose, there was a relatively large number of eosinophilic granulomas in the stratum corneum and within the epidermis, the basal layer was liquefied and deformed, the epithelial corners extended downward, and there was a relatively large number of inflammatory cells (including lymphocytes and eosinophils) surrounding the small blood vessels in the dermis. Diagnosis: neonatal ichthyosis.
文章引用：周玲, 杨阳. 新生儿色素失禁症1例并文献复习[J]. 临床医学进展, 2025, 15(1): 2151-2155. https://doi.org/10.12677/acm.2025.151282

参考文献

[1] Islam, Y.F.K. and Khurshid, S.G. (2022) Incontinentia Pigmenti and the Eye. Current Opinion in Ophthalmology, 33, 525-531. [Google Scholar] [CrossRef] [PubMed]
[2] 李莉, 宋国维, 徐放生, 等. 色素失禁症15例临床研究[J]. 中国实用儿科杂志, 2005, 20(8): 472-474.
[3] 朱玲玉, 高敏, 段晓倩, 等. 色素失调症1家系NEMO基因新致病突变报道[J]. 中华皮肤科杂志, 2022, 55(8): 700-703.
[4] Okita, M., Nakanishi, G., Fujimoto, N., Shiomi, M., Yamada, T., Wataya‐Kaneda, M., et al. (2013) nemo Gene Rearrangement (Exon 4-10 Deletion) and Genotype-Phenotype Relationship in Japanese Patients with Incontinentia Pigmenti and Review of Published Work in Japanese Patients. The Journal of Dermatology, 40, 272-276. [Google Scholar] [CrossRef] [PubMed]
[5] Fusco, F. (2004) Molecular Analysis of the Genetic Defect in a Large Cohort of IP Patients and Identification of Novel NEMO Mutations Interfering with NF-kappaB Activation. Human Molecular Genetics, 13, 1763-1773. [Google Scholar] [CrossRef] [PubMed]
[6] Rosenthal, A. and Fölster-Holst, R. (2016) Incontinentia Pigmenti: Herpes Simplex Infection as an Important Differential Diagnosis in the Neonatal Period. Der Hautarzt, 68, 149-152. [Google Scholar] [CrossRef] [PubMed]
[7] Su, Y., Zhang, H., Zou, Z., Ma, Y., Zhang, H., Wen, J., et al. (2023) Thrombocytosis and Eosinophilia in 32 Chinese Neonatal Incontinentia Pigmenti. International Journal of Dermatology, 62, 1026-1033. [Google Scholar] [CrossRef] [PubMed]
[8] Pizzamiglio, M.R., Piccardi, L., Bianchini, F., Canzano, L., Palermo, L., Fusco, F., et al. (2016) Cognitive-Behavioural Phenotype in a Group of Girls from 1.2 to 12 Years Old with the Incontinentia Pigmenti Syndrome: Recommendations for Clinical Management. Applied Neuropsychology: Child, 6, 327-334. [Google Scholar] [CrossRef] [PubMed]
[9] Kibbi, N., Totonchy, M., Suozzi, K.C., Ko, C.J. and Odell, I.D. (2018) A Case of Subungual Tumors of Incontinentia Pigmenti: A Rare Manifestation and Association with Bipolar Disease. JAAD Case Reports, 4, 737-741. [Google Scholar] [CrossRef] [PubMed]
[10] Wong, E.H.M., So, H., Li, M., Wang, Q., Butler, A.W., Paul, B., et al. (2013) Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese. Schizophrenia Bulletin, 40, 777-786. [Google Scholar] [CrossRef] [PubMed]
[11] Firouzabadi, S.G., Kariminejad, R., Vameghi, R., Darvish, H., Ghaedi, H., Banihashemi, S., et al. (2016) Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Molecular Neurobiology, 54, 7019-7027. [Google Scholar] [CrossRef] [PubMed]
[12] Scheuerle, A.E. (2019) Incontinentia Pigmenti in Adults. American Journal of Medical Genetics Part A, 179, 1415-1419. [Google Scholar] [CrossRef] [PubMed]
[13] 徐菲, 石晶. 色素失禁症遗传学及临床诊治研究进展[M]. 发育医学电子杂志, 2023, 11(5): 395-400.
[14] Bodemer, C., Diociaiuti, A., Hadj‐Rabia, S., Robert, M.P., Desguerre, I., Manière, M., et al. (2020) Multidisciplinary Consensus Recommendations from a European Network for the Diagnosis and Practical Management of Patients with Incontinentia Pigmenti. Journal of the European Academy of Dermatology and Venereology, 34, 1415-1424. [Google Scholar] [CrossRef] [PubMed]
[15] 彭婕, 张琦, 龙新纯. 色素失禁症的眼部表现及治疗[J]. 中华眼底病杂志, 2015, 31(3): 307-309.
[16] Chen, C.J., Han, I.C., Tian, J., Muñoz, B. and Goldberg, M.F. (2015) Extended Follow-Up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment. JAMA Ophthalmology, 133, 542-548. [Google Scholar] [CrossRef] [PubMed]
[17] Wolf, D.S., Golden, W.C., Hoover-Fong, J., Applegate, C., Cohen, B.A., Germain-Lee, E.L., et al. (2014) High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti. Journal of Child Neurology, 30, 100-106. [Google Scholar] [CrossRef] [PubMed]

为你推荐