vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v24i4.2945vsp-3817Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSПигментно-кератотический факоматоз: клинический случайPhacomatosis Pigmentokeratotica: Case Studyhttps://orcid.org/0000-0002-2197-8863ЗеленоваЕ. Е.ZelenovaEkaterina E.

Зеленова Екатерина Евгеньевна, врач-генетик поликлинического отделения Научно-исследовательского института детской онкологии и гематологии им. акад. Л.А. Дурнова

115478, Москва, Каширское шоссе, д. 23

Moscow

zelenovayeye@gmail.comhttps://orcid.org/0000-0001-5911-553XБелышеваТ. С.BelyshevaTatiana S.

Москва

Moscow

https://orcid.org/0000-0002-8249-343XВасильевП. А.VasilievPeter A.

Москва

Moscow

https://orcid.org/0000-0002-5836-0338ШараповаЕ. В.SharapovaElena V.

Москва

Moscow

https://orcid.org/0000-0002-9705-1001СеменоваВ. В.SemenovaVera V.

Москва

Moscow

https://orcid.org/0000-0001-7630-7496МихайловаЕ. В.MikhaylovaElena V.

Москва

Moscow

https://orcid.org/0000-0001-7879-315XДорофееваМ. Ю.DorofeevaMarina Yu.

Москва

Moscow

https://orcid.org/0000-0002-1469-2365ВалиевТ. Т.ValievTimur T.

Москва

Moscow

https://orcid.org/0000-0002-2642-4202НаседкинаТ. В.NasedkinaTatiana V.

Москва

Moscow

Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина; Институт молекулярной биологии им. В.А. ЭнгельгардтаРоссияNational Medical Research Center of Oncology named after N.N. Blokhin; Engelhardt Institute of Molecular BiologyRussian FederationНациональный медицинский исследовательский центр онкологии им. Н.Н. БлохинаРоссияNational Medical Research Center of Oncology named after N.N. BlokhinRussian FederationМедико-генетический научный центр им. акад. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationРоссийский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский Университет)РоссияPirogov Russian National Research Medical UniversityRussian FederationИнститут молекулярной биологии им. В.А. ЭнгельгардтаРоссияEngelhardt Institute of Molecular BiologyRussian Federation202518092025244305313Copyright © Зеленова Е.Е., Белышева Т.С., Васильев П.А., Шарапова Е.В., Семенова В.В., Михайлова Е.В., Дорофеева М.Ю., Валиев Т.Т., Наседкина Т.В., 20252025Зеленова Е.Е., Белышева Т.С., Васильев П.А., Шарапова Е.В., Семенова В.В., Михайлова Е.В., Дорофеева М.Ю., Валиев Т.Т., Наседкина Т.В.Zelenova E.E., Belysheva T.S., Vasiliev P.A., Sharapova E.V., Semenova V.V., Mikhaylova E.V., Dorofeeva M.Y., Valiev T.T., Nasedkina T.V.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/3817

Обоснование. Пигментно-кератотический факоматоз (ПКФ) — орфанный генодерматоз из группы синдрома эпидермального невуса. Заболевание вызвано соматическим мозаицизмом преимущественно в гене HRAS. Патогномоничным признаком ПКФ является сочетание врожденного линейного невуса сальных желез Ядассона и крапчатого лентигинозного невуса. Последний может дебютировать значительно позже. В ряде случаев наблюдаются признаки поражения нервной системы, скелетные нарушения, патология органов зрения. Описание клинического случая. Представлено описание пациента с ПКФ и мозаичным вариантом G469A в гене BRAF, ранее не описанным при этом заболевании. В клинической картине присутствуют типичные проявления синдрома и иммунологические нарушения, нехарактерные для пациентов с ПКФ. Проведен анализ возможных генотип-фенотипических корреляций по данным еще 16 ранее опубликованных наблюдений генетически верифицированного ПКФ. Заключение. Редкость синдрома, вариабельность его течения и особенности генетического тестирования пациентов определяют сложности диагностики ПКФ. Заболевание необходимо рассматривать не только в контексте дерматологических проявлений, но и учитывать сопутствующие нарушения. В план динамического наблюдения необходимо включать консультации детского онколога, невролога, офтальмолога, эндокринолога, ортопеда, кардиолога и иммунолога.

Background. Phacomatosis pigmentokeratotica (PPK) is an orphan genodermatosis from the epidermal nevus syndrome group. This disease is caused by somatic mosaicism predominantly in the HRAS gene. Pathognomonic PPK sign is combination of congenital linear nevus sebaceus of Jadassohn and speckled lentiginous nevus. Second one may debut much later. In some cases, there are signs of nervous system damages, skeletal disorders, visual impairments. Case description. Description of a patient with PPK and novel for this disease mosaic variant G469A in the BRAF gene is presented. Clinical picture included typical signs of the syndrome and immunological disorders unusual for patients with PPK. Possible genotype-phenotype correlations were analyzed based on 16 previously published observations of genetically verified PPK. Conclusion. The syndrome rarity, its course variability, and patients genetic testing features determine the difficulties in PPK diagnosis. The disease should be considered not only in terms of dermatological signs, but also regarding comorbid disorders. The dynamic follow-up should include consultations of pediatric oncologist, neurologist, ophthalmologist, endocrinologist, orthopedist, cardiologist, and immunologist.

пигментно-кератотический факоматозген BRAFсоматический мозаицизмгенодерматоздетиорфанныйневус сальных желез Ядассонакрапчатый лентигинозный невусневус spilusphacomatosis pigmentokeratoticaBRAF genesomatic mosaicismgenodermatosischildrenorphannevus sebaceus of Jadassohnspeckled lentiginous nevusnevus spilusОтсутствует.Not specified.ReferencesHill VA, Felix RH, Mortimer PS, Harper JI. Phacomatosis pigmentokeratotica. J R Soc Med. 2003;96(1):30–31. doi: https://doi.org/10.1177/014107680309600109Hill VA, Felix RH, Mortimer PS, Harper JI. Phacomatosis pigmentokeratotica. J R Soc Med. 2003;96(1):30–31. doi: https://doi.org/10.1177/014107680309600109Torchia D, Happle R. Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis. J Am Acad Dermatol. 2023;89(4):764–773. doi: https://doi.org/10.1016/j.jaad.2020.12.082Torchia D, Happle R. Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis. J Am Acad Dermatol. 2023;89(4):764–773. doi: https://doi.org/10.1016/j.jaad.2020.12.082Gamayunov BN, Korotkiy NG, Baranova EE. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? Clin Case Rep. 2016;4(6):564–567. doi: https://doi.org/10.1002/ccr3.570Gamayunov BN, Korotkiy NG, Baranova EE. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? Clin Case Rep. 2016;4(6):564–567. doi: https://doi.org/10.1002/ccr3.570Happle R, Hoffmann R, Restano L, et al. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet. 1996;65(4):363–365. doi: https://doi.org/10.1002/(SICI)1096-8628(19961111)65:43.0.CO;2-RHapple R, Hoffmann R, Restano L, et al. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet. 1996;65(4):363–365. doi: https://doi.org/10.1002/(SICI)1096-8628(19961111)65:43.0.CO;2-RWauschkuhn J, Rohde B. Systematized sebaceous, pigmented and epithelial nevi with eurologic symptoms. Neuroectodermal Feuerstein Mims syndrome. Hautarzt. 1971;22(1):10–13.Wauschkuhn J, Rohde B. Systematized sebaceous, pigmented and epithelial nevi with eurologic symptoms. Neuroectodermal Feuerstein Mims syndrome. Hautarzt. 1971;22(1):10–13.Goldberg LH, Collins SAB, Siege1 DM. The epidermal nevus syndrome: Case report and review. Pediatr Dermatol. 1987;4(1): 27–33. doi: https://doi.org/10.1111/j.1525-1470.1987.tb00749.xGoldberg LH, Collins SAB, Siege1 DM. The epidermal nevus syndrome: Case report and review. Pediatr Dermatol. 1987;4(1): 27–33. doi: https://doi.org/10.1111/j.1525-1470.1987.tb00749.xStein KM, Shmunes E, Thew M. Neurofibromatosis presenting as the epidermal nevus syndrome. Arch Dermatol. 1972;105(2):229–232.Stein KM, Shmunes E, Thew M. Neurofibromatosis presenting as the epidermal nevus syndrome. Arch Dermatol. 1972;105(2):229–232.Brufau C, Moran M, Armijo M. Naevus sur naevus: A propos de 7 observations, trois associees a d‘autres dysplasies, et une a un melanome malin invasif. Ann Dermatol Venereal. 1986;113(5):409–418.Brufau C, Moran M, Armijo M. Naevus sur naevus: A propos de 7 observations, trois associees a d‘autres dysplasies, et une a un melanome malin invasif. Ann Dermatol Venereal. 1986;113(5):409–418.Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neural. 1969;21(3):242–247. doi: https://doi.org/10.1001/archneur.1969.00480150032003Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neural. 1969;21(3):242–247. doi: https://doi.org/10.1001/archneur.1969.00480150032003Aschinberg LC, Solomon LM, Zeis PM, et al. Vitamin D-resistant rickets associated with epidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions. J Pediatr. 1977;91(1):56–60. doi: https://doi.org/10.1016/s0022-3476(77)80444-7Aschinberg LC, Solomon LM, Zeis PM, et al. Vitamin D-resistant rickets associated with epidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions. J Pediatr. 1977;91(1):56–60. doi: https://doi.org/10.1016/s0022- 3476(77)80444-7Goldblum JR, Headington JT. Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. J Am Acad Dermatol. 1993;29(1):109–111. doi: https://doi.org/10.1016/s0190-9622(08)81813-0Goldblum JR, Headington JT. Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. J Am Acad Dermatol. 1993;29(1):109–111. doi: https://doi.org/10.1016/s0190-9622(08)81813-0Gruson LM, Orlow SJ, Schaffer JV. Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. J Am Acad Dermatol. 2006;55(2 Suppl):S16–S20. doi: https://doi.org/10.1016/j.jaad.2005.08.045Gruson LM, Orlow SJ, Schaffer JV. Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. J Am Acad Dermatol. 2006;55(2 Suppl):S16–S20. doi: https://doi.org/10.1016/j.jaad.2005.08.045Prieto-Barrios M, Llamas-Martin R, Velasco-Tamariz V, et al. Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. Br J Dermatol. 2018;179(5): 1163–1167. doi: https://doi.org/10.1111/bjd.16435Prieto-Barrios M, Llamas-Martin R, Velasco-Tamariz V, et al. Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. Br J Dermatol. 2018;179(5): 1163–1167. doi: https://doi.org/10.1111/bjd.16435Jacobelli S, Leclerc-Mercier S, Salomon R, et al. Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. Acta Derm Venereol. 2010;90(3):279–282. doi: https://doi.org/10.2340/00015555-0824Jacobelli S, Leclerc-Mercier S, Salomon R, et al. Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. Acta Derm Venereol. 2010;90(3):279–282. doi: https://doi.org/10.2340/00015555-0824Bouthors J, Vantyghem MC, Manouvrier-Hanu S, et al. Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol. 2006;155(1):225–226. doi: https://doi.org/10.1111/j.1365-2133.2006.07313.xBouthors J, Vantyghem MC, Manouvrier-Hanu S, et al. Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol. 2006;155(1):225–226. doi: https://doi.org/10.1111/j.1365-2133.2006.07313.xVidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, et al. Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol. 2004;21(4):432–439. doi: https://doi.org/10.1111/j.0736-8046.2004.21402.xVidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, et al. Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol. 2004;21(4):432–439. doi: https://doi.org/10.1111/j.0736-8046.2004.21402.xGarcıa de Jalon A, Azua-Romeo J, Trivez MA, et al. Epidermal naevus syndrome (Solomon’s syndrome) associated with bladder cancer in a 20-year-old female. Scand J Urol Nephrol. 2004;38(1): 85–87. doi: https://doi.org/10.1080/00365590310017316Garcıa de Jalon A, Azua-Romeo J, Trivez MA, et al. Epidermal naevus syndrome (Solomon’s syndrome) associated with bladder cancer in a 20-year-old female. Scand J Urol Nephrol. 2004;38(1): 85–87. doi: https://doi.org/10.1080/00365590310017316Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, et al. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol. 2005;22(1):44–47. doi: https://doi.org/10.1111/j.1525-1470.2005.22110.xMartínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, et al. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol. 2005;22(1):44–47. doi: https://doi.org/10.1111/j.1525-1470.2005.22110.xGroesser L, Herschberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a pluri potent progenitor cell. J Invest Dermatol. 2013;133(8): 1998–2003. doi: https://doi.org/10.1038/jid.2013.24Groesser L, Herschberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a pluri potent progenitor cell. J Invest Dermatol. 2013;133(8): 1998–2003. doi: https://doi.org/10.1038/jid.2013.24Ayala D, Ramón MD, Martín JM, Jordá E. Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF Glu586Lys Mutation. Actas Dermosifiliogr. 2016;107(4): 344–346. doi: https://doi.org/10.1016/j.ad.2015.07.017Ayala D, Ramón MD, Martín JM, Jordá E. Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF Glu586Lys Mutation. Actas Dermosifiliogr. 2016;107(4): 344–346. doi: https://doi.org/10.1016/j.ad.2015.07.017Kuentz P, Mignot C, St-Onge J, et al. Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. J Invest Dermatol. 2016;136(5):1060–1062. doi: https://doi.org/10.1016/j.jid.2016.01.015Kuentz P, Mignot C, St-Onge J, et al. Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. J Invest Dermatol. 2016;136(5):1060–1062. doi: https://doi.org/10.1016/j.jid.2016.01.015Om A, Cathey SS, Gathings RM, et al. Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. Pediatr Dermatol. 2017;34(3):352–355. doi: https://doi.org/10.1111/pde.13119Om A, Cathey SS, Gathings RM, et al. Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. Pediatr Dermatol. 2017;34(3):352–355. doi: https://doi.org/10.1111/pde.13119Li JY, Berger MF, Marghoob A, et al. Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. J Cutan Pathol. 2014;41(8):663–671. doi: https://doi.org/10.1111/cup.12339Li JY, Berger MF, Marghoob A, et al. Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. J Cutan Pathol. 2014;41(8):663–671. doi: https://doi.org/10.1111/cup.12339Martin RJ, Arefi M, Splitt M, et al. Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. Br J Dermatol. 2018;178(1):289–291. doi: https://doi.org/10.1111/bjd.15643Martin RJ, Arefi M, Splitt M, et al. Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. Br J Dermatol. 2018;178(1):289–291. doi: https://doi.org/10.1111/bjd.15643Huang L, Zhang J, Chen F, et al. The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense HRAS mosaicism. J Dermatol. 2022;49(9):921–924. doi: https://doi.org/10.1111/1346-8138.16434Huang L, Zhang J, Chen F, et al. The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense HRAS mosaicism. J Dermatol. 2022;49(9):921–924. doi: https://doi.org/10.1111/1346-8138.16434Wiedemeyer K, Hartschuh W. Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome — histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges. 2009;7(7): 612–615. doi: https://doi.org/10.1111/j.1610-0387.2009.07036.xWiedemeyer K, Hartschuh W. Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome — histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges. 2009;7(7): 612–615. doi: https://doi.org/10.1111/j.1610-0387.2009.07036.xTorrelo A, Zambrano A. What syndrome is this. Phakomatosis pigmen tokeratotica (Happle). Pediatr Dermatol. 1998;15(4):321–323. doi: https://doi.org/10.1046/j.1525-1470.1998.1998015321.xTorrelo A, Zambrano A. What syndrome is this. Phakomatosis pigmen tokeratotica (Happle). Pediatr Dermatol. 1998;15(4):321–323. doi: https://doi.org/10.1046/j.1525-1470.1998.1998015321.xChantorn R, Shwayder T. Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. Pediatr Dermatol. 2011;28(6):715–719. doi: https://doi.org/10.1111/j.1525-1470.2011.01655.xChantorn R, Shwayder T. Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. Pediatr Dermatol. 2011;28(6):715–719. doi: https://doi.org/10.1111/j.1525-1470.2011.01655.xWollenberg A, Butnaru C, Oppel T. Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. Acta Derm Venereol. 2002;82(1):55–57. doi: https://doi.org/10.1080/000155502753600911Wollenberg A, Butnaru C, Oppel T. Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. Acta Derm Venereol. 2002;82(1):55–57. doi: https://doi.org/10.1080/000155502753600911Kubo A, Yamada D. Phakomatosis Pigmentokeratotica. N Engl J Med. 2019;381(15):1458. doi: https://doi.org/10.1056/NEJMicm1817155Kubo A, Yamada D. Phakomatosis Pigmentokeratotica. N Engl J Med. 2019;381(15):1458. doi: https://doi.org/10.1056/NEJMicm1817155Cranwell WC, Walsh M, Winship I. Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. Australas J Dermatol. 2019;60(3):e245–e246. doi: https://doi.org/10.1111/ajd.13007Cranwell WC, Walsh M, Winship I. Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. Australas J Dermatol. 2019;60(3):e245–e246. doi: https://doi.org/10.1111/ajd.13007Jennings L, Cummins R, Murphy GM, et al. HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. Clin Exp Dermatol. 2017;42(7):791–792. doi: https://doi.org/10.1111/ced.12961Jennings L, Cummins R, Murphy GM, et al. HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. Clin Exp Dermatol. 2017;42(7):791–792. doi: https://doi.org/10.1111/ced.12961Hayani K, Giehl K, Kumbrink J, et al. Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. Acta Derm Venereol. 2020;100(15):adv00241. doi: https://doi.org/10.2340/00015555-3599Hayani K, Giehl K, Kumbrink J, et al. Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. Acta Derm Venereol. 2020;100(15):adv00241. doi: https://doi.org/10.2340/00015555-3599Amayiri N, Al-Hussaini M, Maraqa B, et al. Next-generation sequencing for pediatric CNS tumors: does it add value in a middle-income country setup? Front Oncol. 2024;14:1329024. doi: https://doi.org/10.3389/fonc.2024.1329024Amayiri N, Al-Hussaini M, Maraqa B, et al. Next-generation sequencing for pediatric CNS tumors: does it add value in a middle-income country setup? Front Oncol. 2024;14:1329024. doi: https://doi.org/10.3389/fonc.2024.1329024Julius K, Kromer C, Schnabel V, et al. Response of metastatic acral melanoma with exon 11 BRAF G469A mutation to BRAF/MEK inhibition. J Dtsch Dermatol Ges. 2022;20(4):528–530. doi: https://doi.org/10.1111/ddg.14737Julius K, Kromer C, Schnabel V, et al. Response of metastatic acral melanoma with exon 11 BRAF G469A mutation to BRAF/MEK inhibition. J Dtsch Dermatol Ges. 2022;20(4):528–530. doi: https://doi.org/10.1111/ddg.14737Dagogo-Jack I. Durable Response to Dabrafenib Combined With Trametinib in a Patient With NSCLC Harboring a BRAF G469A Mutation. J Thorac Oncol. 2020;15(10):e174–e176. doi: https://doi.org/10.1016/j.jtho.2020.07.007Dagogo-Jack I. Durable Response to Dabrafenib Combined With Trametinib in a Patient With NSCLC Harboring a BRAF G469A Mutation. J Thorac Oncol. 2020;15(10):e174–e176. doi: https://doi.org/10.1016/j.jtho.2020.07.007Di Majo BE, Leoni C, Cartisano E, et al. Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort. Front Immunol. 2025;16:1598896. doi: https://doi.org/10.3389/fimmu.2025.1598896Di Majo BE, Leoni C, Cartisano E, et al. Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort. Front Immunol. 2025;16:1598896. doi: https://doi.org/10.3389/fimmu.2025.1598896Белышева Т.С., Зеленова Е.Е., Семенова Н.А. и др. Синдром Протея: описание двух клинических случаев // Вопросы современной педиатрии. — 2024. — Т. 23. — № 5. — С. 343–349. — doi: https://doi.org/10.15690/vsp.v23i5.2797Belysheva TS, Zelenova EE, Semenova NA, et al. Proteus Syndrome: Description of Two Clinical Cases. Voprosy sovremennoi pediatrii — Current Pediatrics. 2024;23(5):343–349. (In Russ). doi: https://doi.org/10.15690/vsp.v23i5.2797Lena CP, Kondo RN, Nicolacópulos T. Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome. An Bras Dermatol. 2019;94(2):227–229. doi: https://doi.org/10.1590/abd1806-4841.20197661Lena CP, Kondo RN, Nicolacópulos T. Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome. An Bras Dermatol. 2019;94(2):227–229. doi: https://doi.org/10.1590/abd1806-4841.20197661Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J. Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB. Acta Derm Venereol. 2022;102:adv00806. doi: https://doi.org/10.2340/actadv.v102.1141.Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J. Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB. Acta Derm Venereol. 2022;102:adv00806. doi: https://doi.org/10.2340/actadv.v102.1141.

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