Strategies for Differential Diagnosis and Management of Ichthyosis in Newborns
https://doi.org/10.31146/2949-4664-apps-2-2-55-64
Abstract
About the Authors
Yu. M. ShokurovaRussian Federation
O. S. Orlova
Russian Federation
N. M. Marycheva
Russian Federation
A. A. Kuratova
Russian Federation
V. S. Polenova
Russian Federation
References
1. Lilly E., Bunick C. G. Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. Clin Cosmet Investig Dermatol. 2023 Sep 11;16:2473-2479. doi: 10.2147/CCID.S388608.
2. Melnichenko O. O., Zhukova O. V., Novozhilova O. L., Korsunskaya I. M. On epidemiology of congenital ichthyosis in Moscow. Medical alphabet. 2021;(18):59-62. (In Russ.) doi: 10.33667/2078-5631-2021-18-59-62.@@ Мельниченко О. О., Жукова О. В., Новожилова О. Л., Корсунская И. М. Квопросу об эпидемиологии врожденного ихтиоза вМоскве. Медицинский алфавит. 2021;(18):59-62. doi: 10.33667/2078-5631-2021-18-59-62.
3. Jaffar H., Shakir Z., Kumar G., AliI. F. Ichthyosis vulgaris: An updated review. Skin Health Dis. 2022 Nov 25;3(1): e187. doi: 10.1002/ski2.187.
4. Craiglow B. G. Ichthyosis in the newborn. Semin Perinatol. 2013 Feb;37(1):26-31. doi: 10.1053/j.semperi.2012.11.001.
5. Ivich J. M. Ichthyosis in the Neonatal Setting. Adv Neonatal Care. 2015;(15):253-60. doi: 10.1097/ANC.0000000000000106.
6. Murashkin N.N., Avetisyan KO., Ivanov R. A., Makarova S. G. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease. Current Pediatrics 2022;(5):362-377. (In Russ.) doi: 10.15690/vsp.v21i5.2459.@@ Мурашкин Н. Н., Аветисян К. О., Иванов Р. А., Макарова C. Г. Врожденный ихтиоз: клинико-генетические характеристики заболевания. Вопросы современной педиатрии. 2022;21(5):362-377. doi: 10.15690/vsp.v21i5.2459.
7. Dyer J.A., Spraker M., Williams M. Care of the newborn with ichthyosis. Dermatol Ther. 2013;(26):1-15. doi: 10.1111/j.1529-8019.2012.01555.x.
8. Harting M., Brunetti-Pierri N., Chan C. S., Kirby J., Dishop M. K., Richard G. et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008;(144):351-6. doi: 10.1001/archderm.144.3.351.
9. Zdraveska N., Kostovski A., Sofijanova A., Jancevska S., Damevska K. Collodion phenotype remains achallenge for neonatologists: Arare case of self-healing collodion baby. Clin Case Rep. 2022;10 (7): e6158. doi: 10.1002/ccr3.6158.
10. Tsivilika M., Kavvadas D., Karachrysafi S., Sioga A., Papamitsou T. Management of Harlequin Ichthyosis: ABrief Review of the Recent Literature. Children (Basel). 2022;(9):893. doi: 10.3390/children9060893.
11. Jilumudi U. B.Harlequin ichthyosis: Amedico legal case report & review of literature with peculiar findings in autopsy. J Forensic Leg Med. 2012;19(6):352-354. doi: 10.1016/j.jflm.2012.02.019.
12. Olmos Jiménez M. J., González Fernández A., Valverde-Molina J., Díez Lorenzo M. P. Harlequin ichthyosis. An Pediatr (Barc). 2014;(80):263. doi: 10.1016/j.anpedi.2013.06.019.
13. Oji V., Tadini G., Akiyama M., Blanchet Bardon C., Bodemer C., Bourrat E. et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;(63):607-641. doi: 10.1016/j.jaad.2009.11.020.
14. Avril M., Riley C. Management of Epidermolytic Ichthyosis in the Newborn. Neonatal Netw 2016;(35):19-28. doi: 10.1891/0730-0832.35.1.19.
15. Peter Rout D., Nair A., Gupta A., Kumar P. Epidermolytic hyperkeratosis: clinical update. Clin Cosmet Investig Dermatol. 2019;(12):333-344. doi: 10.2147/CCID.S166849.
16. Orlovskaya I.V., Ryumina I. I., Perepyolkina A. E. Congenital ichthiosis. Ros Vestn Perinatol iPediatr. 2009;54(6):22-5. (in Russ.)@@ Орловская И. В., Рюмина И. И., Перепелкина А. Е. Врожденный ихтиоз. Рос вестн перинатол ипедиат. 2009; 54(6): 22-25.
17. Barbati F., Giovannini M., Oranges T., Lodi L. Netherton Syndrome in Children: Management and Future Perspectives. Front Pediatr. 2021;(9):645259. doi: 10.3389/fped.2021.645259.
18. Van Smeden J., Al-Khakany H., Wang Y. Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities. J Lipid Res. 2020;61(6):859-869. doi: 10.1194/jlr.RA120000639.
19. Dias J.V., Cardoso K., Prado S. N., Cavaco H. Congenital ichthyosis: amultidisciplinary approach in aneonatal care unit. BMJ Case Rep. 2023;16(2): e250077. doi:10.1136/bcr-2022-250077.
20. Moraes E.L.L., Freire M. H.S., Rocha F., Secco I. L., Costa T., Afonso R. Q. Nursing care for anewborn with Lamellar Ichthyosis: acase study in aneonatal unit. Assistência de enfermagem ao recém-nascido com Ictiose Lamelar: um estudo de caso em unidade neonatal. Rev Esc Enferm USP. 2019;53: e03519. doi: 10.1590/S1980-220X2018031603519.
21. Heap J., Judge M., Padmakumar B. Harlequin ichthyosis from birth to 12 years. BMJ Case Rep. 2020 Aug 26;13(8): e235225. doi: 10.1136/bcr-2020-235225.
22. Fowler A.J., Moskowitz D. G., Wong A., Cohen S. P., Williams M. L., Heyman M. B. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J Pediatr Gastroenterol Nutr. 2004;38(2):164-169. doi: 10.1097/00005176-200402000-00012.
23. Rodríguez-Manchón S., Pedrón-Giner C., Cañedo-Villarroya E., Muñoz-Codoceo R.A., Hernández-Martín Á. Malnutrition in children with ichthyosis: Recommendations for monitoring from amultidisciplinary clinic experience. J Am Acad Dermatol. 2021;85(1):144-151. doi: 10.1016/j.jaad.2020.06.064.
24. Abeni D., Rotunno R., Diociaiuti A. et al. The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study. Acta Derm Venereol. 2021;101(6): adv00477. doi: 10.2340/00015555-3822.
25. Diaz L.Z., Browning J. C., Smidt A. C., Rizzo W. B., Levy M. L. Complications of ichthyosis beyond the skin. Dermatol Ther. 2013;26(1):39-45. doi: 10.1111/j.1529-8019.2012.01517.x.
26. Gunes T., Akcakus M., Kurtoğlu S., Cetin N., Karakükçü M. Harlequin baby with ecthyma gangrenosum. Pediatr Dermatol. 2003;20(6):529-530. doi: 10.1111/j.1525-1470.2003.20616.x.
27. Vahlquist A., Fischer J., Törmä H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. Am J Clin Dermatol. 2018;19(1):51-66. doi: 10.1007/s40257-017-0313-x.
28. Di Nora A., Consentino M. C., Messina G., Timpanaro T., Smilari P., Pavone P. Severe Hypernatremia as Presentation of Netherton Syndrome. Glob Med Genet. 2023 Nov 22;10(4):335-338. doi: 10.1055/s-0043-1776983.
29. Murgu A.M., Crişcov I. G., Fotea S. et al. Particularities of the management and the treatment in arare sepsis with Candida tropicalis of aCollodion baby: Case report. Medicine (Baltimore). 2017;96(51): e9387. doi: 10.1097/MD.0000000000009387.
30. Bellon N., Hadj-Rabia S., Moulin F. et al. The challenging management of aseries of 43 infants with Netherton syndrome: unexpected complications and novel mutations. Br J Dermatol. 2021;184(3):532-537. doi: 10.1111/bjd.19265.
31. Ripmeester P., Dunn S. Against all odds: breastfeeding ababy with harlequin ichthyosis. J Obstet Gynecol Neonatal Nurs. 2002;31(5):521-525. doi: 10.1111/j.1552-6909.2002.tb00076.x.
32. Nassif P.W., Nakandakari S., Fogagnolo L., Contin L. A., Alves C. J. Epidermolytic hyperkeratosis: afollow-up of 23 years of use of systemic retinoids. An Bras Dermatol. 2011;86(4 Suppl1): S72-S75. doi: 10.1590/s0365-05962011000700018.
33. Murashkin N.N., Epishev R. V., Materikin A. I., Ambarchian E. T., Opryatin L. A., Ivanov R. A. Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”. Current Pediatrics. 2020;19(6):420-431. (In Russ.) doi: 10.15690/vsp.v19i6.2143.@@ Мурашкин Н. Н., Епишев Р. В., Материкин А. И., Амбарчян Э. Т., Опрятин Л. А., Иванов Р. А. Современные перевязочные средства влечении заболеваний кожи. Вопросы современной педиатрии. 2020;19(6):420-431. doi: 10.15690/vsp.v19i6.2143.
34. Zaenglein A.L., Levy M. L., Stefanko N. S. et al. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatr Dermatol. 2021;38(1):164-180. doi: 10.1111/pde.14408.
35. Ogawa M., Akiyama M. Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis. J Am Acad Dermatol. 2014;71(3): e103-e105. doi: 10.1016/j.jaad.2014.04.010.
36. Singh M., Kaur M., Kaur R., Singh S. Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. Pediatr Dermatol. 2018;35(2): e117-e120. doi: 10.1111/pde.13410.
37. Haase R., Kreft B., Foell J., Kekulé A. S., Merkel N. Successful treatment of Candida albicans septicemia in apreterm infant with severe congenital ichthyosis (Harlequin baby). Pediatr Dermatol. 2009;26(5):575-578. doi: 10.1111/j.1525-1470.2009.00989.x.
38. Erol S., Zenciroğlu A., Dilli D. et al. Evaluation of nosocomial blood stream infections caused by Pseudomonas species in newborns. Clin Lab. 2014;60(4):615-620. doi: 10.7754/clin.lab.2013.130325.
39. Jefferies J.M.C., Cooper T., Yam T., Clarke S. C. Pseudomonas aeruginosa outbreaks in the neonatal intensive care unit-a systematic review of risk factors and environmental sources. J Med Microbiol. 2012;61(Pt8):1052-1061. doi: 10.1099/jmm.0.044818-0.
40. Andreev A.V., Kharlamova N. V., Mezhinskiy S. S., Shylova N. A., Karpova A. L., Mostovoy A. V., Pesenkina A. A. Clinical assessment of pain in newborns. Ros Vestn Perinatol iPediatr. 2020; 65:(4): 5-15. (In Russ.) doi: 10.21508/1027-4065-2020-65-4-5-15.@@ Андреев А. В., Харламова Н. В., Межинский С. С., Шилова Н. А., Карпова А. Л., Мостовой А. В., Песенкина А. А. Проблемы клинической оценки боли у новорожденных детей. Рос вестн перинатол ипедиатр. 2020; 65:(4): 5-15. doi: 10.21508/1027-40652020-65-4-5-15.
41. Troitskaya K. S., Golyaeva M. N., Orlova O. S. The problem of pain and its assessment in children with epidermolysis bullosa. Archives of Pediatrics and Pediatric Surgery. 2023;1(2):76-82. (In Russ.) doi: 10.31146/2949-4664-apps-2-2-76-82. @@ Троицкая К. С., Голяева М. Н., Орлова О. С. Проблема боли иее оценки удетей сбуллезным эпидермолизом. Архив педиатрии идетской хирургии. 2023;1(2):76-82. doi: 10.31146/2949-4664-apps-2-2-76-82.
42. Stoll C., Alembik Y., Tchomakov D. et al. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns. 2001;12(3):237-243.
43. Slominski A.T., Manna P. R., Tuckey R. C. Cutaneous glucocorticosteroidogenesis: securing local homeostasis and the skin integrity. Exp Dermatol. 2014;23(6):369-374. doi: 10.1111/exd.12376.
44. Stratakis C. A. Skin manifestations of Cushing’s syndrome. Rev Endocr Metab Disord. 2016;17(3):283-286. doi: 10.1007/s11154-016-9399-3.
45. Chedid M., Hoyle J. R., Csaky K. G., Rubin J. S. Glucocorticoids inhibit keratinocyte growth factor production in primary dermal fibroblasts. Endocrinology. 1996;137(6):2232-2237. doi: 10.1210/endo.137.6.8641170.
Review
For citations:
Shokurova Yu.M., Orlova O.S., Marycheva N.M., Kuratova A.A., Polenova V.S. Strategies for Differential Diagnosis and Management of Ichthyosis in Newborns. Archives of Pediatrics and Pediatric Surgery. 2024;2(2):55-64. (In Russ.) https://doi.org/10.31146/2949-4664-apps-2-2-55-64