Bloch–Sulzberger syndrome (Incontinentia pigmenti)
- 作者: Shchava S.1, Shishkina M.1
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隶属关系:
- Volgograd State Medical University
- 期: 卷 26, 编号 5 (2023)
- 页面: 441-447
- 栏目: DERMATOLOGY
- URL: https://journals.rcsi.science/1560-9588/article/view/232063
- DOI: https://doi.org/10.17816/dv470286
- ID: 232063
如何引用文章
详细
Bloch–Sulzberger syndrome or Incontinentia pigmenti is a genetic disease that causes skin pathology in the first days of a child's life and is suspected of identifying the disease.
The article presents the characteristic signs of this syndrome and the pronounced manifestations of the disease. A presumptive case of a girl born in a family without a burdened anamnesis: the first manifestations of the disease appeared on the fifth day of life, were represented by linearly arranged vesicular-bullous rashes on an erythematous background and were regarded as a skin infection. Due to the ineffectiveness of the therapy, the patient was consulted by a dermatovenerologist, geneticist, neurologist. The child was consulted again at 5.5 years old: the article presents the data of a medical and genetic study and distant clinical signs of this syndrome in the form of hyperpigmented spots in combination with foci of atrophy, alopecia and dental anomalies in the sixth year of life.
Thus, the clinical signs of Bloch–Sulzberger syndrome made it possible to diagnose the disease at the newborn stage, which, in turn, helped to avoid unjustified prescribing of various systemic medications, to develop an individual treatment plan for the child and, as a result, contributed to the prevention of the development of complications of the disease and to improve the patient's quality of life.
作者简介
Svetlana Shchava
Volgograd State Medical University
Email: snchava@rambler.ru
ORCID iD: 0000-0002-4946-6624
SPIN 代码: 7449-7277
MD, Cand. Sci. (Med.), Assistant Professor
俄罗斯联邦, 1 Pavshikh Bortsov square, 400131 VolgogradMarina Shishkina
Volgograd State Medical University
编辑信件的主要联系方式.
Email: marinashishkina_derm@mail.ru
ORCID iD: 0000-0001-5479-3075
SPIN 代码: 5446-8406
Assistant Lecturer
俄罗斯联邦, 1 Pavshikh Bortsov square, 400131, Volgograd参考
- Nirmalasari DA, Tabri F, Waspodo N, et al. Incontinentia pigmenti / Bloch-Sulzberger syndrome: A case report. Acta Dermatovenerol Alp Pannonica Adriat. 2022;31(1):39–41.
- Ellis KT, Ovejero D, Choate KA. Cutaneous mosaicism: Special considerations for women. Int J Women’s Dermatol. 2021;7(5, Part A):539–544. doi: 10.1016/j.ijwd.2021.10.004
- Gianfaldoni S, Tchernev S, Wollina U, Lotti T. Incontinentia pigmenti: A case report of a complex systemic disease. Open Access Maced J Med Sci. 2017;5(4):501–505. doi: 10.3889/oamjms.2017.128
- Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti. An Bras Dermatol. 2014;89(1):26–36 doi: 10.1590/abd1806-4841.20142584
- Ivanova IN, Serdyukova EA, Eremina GV. Incontinence of pigment. Russ J Skin Venereal Dis. 2012;(4):40–42. (In Russ).
- Slesarenko NA, Utz SR, Grashkina IG, et al. Pigment incontinence (Bloch-Sulzberger syndrome). Saratov J Med Scientific Res. 2015;11(3):457–462. (In Russ).
- Zemskov MA, Kotlova VB, Dolgikh VS, et al. Bloch-Sulzberger syndrome (pigment incontinence): Rare genodermatosis with eye involvement. Consilium Medicum. 2019;21(12.2):52–53. (In Russ). doi: 10.26442/24143537.2019.2.190363
- Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30(1):53–59. doi: 10.1136/jmg.30.1.53