vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i2.2742vsp-3450Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSСочетание псориаза и витилиго у ребенка с синдромом Сотоса: клинический случайCombination of Psoriasis and Vitiligo in a Child with Sotos Syndrome: Clinical Casehttps://orcid.org/0000-0003-1355-3125ЕфановаЕ. Н.EfanovaElena N.

Ефанова Елена Николаевна - кандидат медицинских наук, доцент кафедры многопрофильной клинической подготовки медицинского института СурГУ.

628412, Сургут, пр. Ленина, 1

Тел.: +7 (3462) 52-74-83

Surgut

efanova_en@surgu.ruhttps://orcid.org/0009-0006-8907-4306ТаскаеваД. Г.TaskaevaDaria G.

Сургут

Surgut

Сургутский государственный университетРоссияSurgut State UniversityRussian Federation202405052024232111115Copyright © Ефанова Е.Н., Таскаева Д.Г., 20242024Ефанова Е.Н., Таскаева Д.Г.Efanova E.N., Taskaeva D.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3450

Обоснование. Псориаз и витилиго — хронические относительно распространенные заболевания кожи. Вместе с тем, сочетание этих заболеваний у детей отмечается редко. Сочетание псориаза и витилиго у ребенка с синдромом Сотоса ранее не описано. Описание клинического случая. Ребенок (мальчик), возраст 10 лет. Госпитализирован с жалобами (со слов матери) на высыпания на коже головы, туловища, конечностей, сопровождающиеся легким зудом, не связанным с временем суток. Патологический кожный процесс носит распространенный характер. Пациент гиперактивен, неусидчив, эмоционально лабилен, раздражителен. Жалобы на высыпания с 7-летнего возраста. В 8-летнем возрасте установлен синдром Сотоса (вариант с.6559C>T (p.Arg2187Ter) в экзоне 23 гена NSD1 (5q35.3), аутосомно-доминантный тип наследования (патологический аллель de novo)). В возрасте 8,5 лет диагностирован вульгарный псориаз, сопутствующий диагноз — витилиго, ограниченная форма. В стационаре проведена симптоматическая противозудная и наружная патогенетическая терапия. Фототерапия не назначена ввиду наличия относительного противопоказания (малая ретроцеребральная киста) и особенностей основного заболевания (гиперактивность, неусидчивость), затрудняющих размещение ребенка в кабине фототерапии. На фоне лечения (14 сут) отмечена положительная динамика: исчезновение зуда, уменьшение выраженности шелушения, уплощение и побледнение псориатических элементов сыпи до пятен поствоспалительной гипопигментации. На коже области правого коленного сустава очаг депигментации без изменений. Выписан для амбулаторного наблюдения. Прогноз для жизни по синдрому Сотоса и кожному процессу благоприятный. Заключение. Представлено первое медицинское наблюдение случая псориаза и витилиго у ребенка с синдромом Сотоса. Патогенетическая связь указанных заболеваний однозначно не определена. Лечение в таких случаях требует совместного участия дерматологов, генетиков и педиатров.

Background. Psoriasis and vitiligo are chronic, relatively common dermatological diseases. Meanwhile, their combination in children is rare. The combination of psoriasis and vitiligo in a child with Sotos syndrome has not been previously described. Clinical case description. The boy, 10 years old, was hospitalized with complaints (according to his mother) of rashes on the scalp, body, and limbs, with mild itching that was not related to the time of day. The pathological skin process was widespread. The patient was hyperactive, restless, emotionally labile, irritable. Complaints of rashes was mentioned firstly at the age of 7. Sotos syndrome was established at the age of 8 (variant c.6559C>T (p.Arg2187Ter) in 23 exon of the NSD1 gene (5q35.3), autosomal dominant type of inheritance (pathological allele de novo)). Psoriasis vulgaris was diagnosed with secondary vitiligo (localized form) at the age of 8.5 years. Symptomatic antipruritic and external pathogenetic therapy was performed in the hospital. Phototherapy was not prescribed due to the relative contradiction (small retrocerebral cyst) and the peculiarities of major disease (hyperactivity, restlessness) that complicated to place the child in the phototherapy booth. Positive dynamics was noted during the treatment (14 days): no itching, decrease of peeling severity, flattening and blanching of psoriatic rash elements to spots of post-inflammatory hypopigmentation. The lesion (focus of depigmentation) on the right knee joint skin remained unchanged. The patient was discharged to outpatient care. The prognosis for Sotos syndrome and skin lesions is favorable. Conclusion. The first medical observation of the child with Sotos syndrome burdened with psoriasis and vitiligo is presented. The pathogenetic correlation of these diseases is not clearly defined. Management of such cases requires the joint collaboration of dermatologists, geneticists and pediatricians.

синдром Сотосапсориазвитилигоребенокклинический случайSotos syndromepsoriasisvitiligochildclinical caseОтсутствует.Not specified.ReferencesWang X, Yeh S, Wu G, et al. Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. J Biol Chem. 2001;276(44):40417-40423. doi: https://doi.org/10.1074/jbc.M104765200Wang X, Yeh S, Wu G, et al. Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. J Biol Chem. 2001;276(44):40417-40423. doi: https://doi.org/10.1074/jbc.M104765200Malan V, Rajan D, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010;87(2):189-198. doi: https://doi.org/10.1016/j.ajhg.2010.07.001Malan V, Rajan D, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010;87(2):189-198. doi: https://doi.org/10.1016/j.ajhg.2010.07.001Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15:264-271. doi: https://doi.org/10.1038/sj.ejhg.5201686Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15:264-271. doi: https://doi.org/10.1038/sj.ejhg.5201686Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet C Semin Med Genet. 2013;163C(2):86-91. doi: https://doi.org/10.1002/ajmg.c.31359Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet C Semin Med Genet. 2013;163C(2):86-91. doi: https://doi.org/10.1002/ajmg.c.31359Tatton-Brown K, Douglas J, Coleman K, et al. Childhood Overgrowth Collaboration Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77(2):193-204. doi: https://doi.org/10.1086/432082Tatton-Brown K, Douglas J, Coleman K, et al. Childhood Overgrowth Collaboration Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77(2):193-204. doi: https://doi.org/10.1086/432082Dahlqvist P, Spencer R, Marques P, et al. Pseudoacromegaly: a differential diagnostic problem for acromegaly with a genetic solution. J Endocr Soc. 2017;1(8):1104-1109. doi: https://doi.org/10.1210/js.2017-00164Dahlqvist P, Spencer R, Marques P, et al. Pseudoacromegaly: a differential diagnostic problem for acromegaly with a genetic solution. J Endocr Soc. 2017;1(8):1104-1109. doi: https://doi.org/10.1210/js.2017-00164Douglas J, Hanks S, Temple IK, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003;72(1):132-143. doi: https://doi.org/10.1086/345647Douglas J, Hanks S, Temple IK, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003;72(1):132-143. doi: https://doi.org/10.1086/345647Carapito R, Isidor B, Guerouaz N, et al. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist. Br J Dermatol. 2015;172(1):302-305. doi: https://doi.org/10.1111/bjd.13261Carapito R, Isidor B, Guerouaz N, et al. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist. Br J Dermatol. 2015;172(1):302-305. doi: https://doi.org/10.1111/bjd.13261Kridin K, Lyakhovitsky K, Onn E, et al. Investigating the epidemiological relationship between vitiligo and psoriasis: a population-based study. Arch Dermatol Res. 2023;315(3): 395-400. doi: https://doi.org/10.1007/s00403-022-02358-8Kridin K, Lyakhovitsky K, Onn E, et al. Investigating the epidemiological relationship between vitiligo and psoriasis: a population-based study. Arch Dermatol Res. 2023;315(3): 395-400. doi: https://doi.org/10.1007/s00403-022-02358-8Burlando M, Muracchioli A, Cozzani E, Parodi A. Psoriasis, Vitiligo, and Biologic Therapy: Case Report and Narrative Review. Case Rep Dermatol. 2021;13(2):372-378. doi: https://doi.org/10.1159/000514198Burlando M, Muracchioli A, Cozzani E, Parodi A. Psoriasis, Vitiligo, and Biologic Therapy: Case Report and Narrative Review. Case Rep Dermatol. 2021;13(2):372-378. doi: https://doi.org/10.1159/000514198Псориаз: клинические рекомендации / Российское общество дерматовенерологов и косметологов. — 2023. — 78 с.Psoriaz: Clinical recommendations. Russian Society of Dermatovenerologists and Cosmetologists. 2023. 78 p. (In Russ).Витилиго: клинические guidelines / Российское общество дерматовенерологов и косметологов. — 2016. — 18 с.Vitiligo: Clinical guidelines. Russian Society of Dermatovenerologists and Cosmetologists. 2016. 18 p. (In Russ).Krenitsky A, Ghamrawi RI, Feldman SR. Phototherapy: a Review and Update of Treatment Options in Dermatology. Curr Derm Rep. 2020;9:10-21. doi: https://doi.org/10.1007/s13671-020-00290-6Krenitsky A, Ghamrawi RI, Feldman SR. Phototherapy: a Review and Update of Treatment Options in Dermatology. Curr Derm Rep. 2020;9:10-21. doi: https://doi.org/10.1007/s13671-020-00290-6Nada HR, El Sharkawy DA, Elmasry MF, et al. Expression of Janus Kinase 1 in vitiligo & psoriasis before and after narrow band UVB: a case-control study. Arch Dermatol Res. 2018;310(1):39-46. doi: https://doi.org/10.1007/s00403-017-1792-6Nada HR, El Sharkawy DA, Elmasry MF, et al. Expression of Janus Kinase 1 in vitiligo & psoriasis before and after narrow band UVB: a case-control study. Arch Dermatol Res. 2018;310(1):39-46. doi: https://doi.org/10.1007/s00403-017-1792-6Piskin G, Tursen U, Sylva-Steenland RM, et al. Clinical improvement in chronic plaque-type psoriasis lesions after narrowband UVB therapy is accompanied by a decrease in the expression of IFN-gamma inducers — IL-12, IL-18 and IL-23. Exp Dermatol. 2004;13(12):764-772. doi: https://doi.org/10.1111/j.0906-6705.2004.00246.xPiskin G, Tursen U, Sylva-Steenland RM, et al. Clinical improvement in chronic plaque-type psoriasis lesions after narrowband UVB therapy is accompanied by a decrease in the expression of IFN-gamma inducers — IL-12, IL-18 and IL-23. Exp Dermatol. 2004;13(12):764-772. doi: https://doi.org/10.1111/j.0906-6705.2004.00246.x

The authors declare that there are no conflicts of interest present.