Same Skin, Different Story: Exploring the Clinical Spectrum
of Hypomelanosis of Ito in Two Paediatric Patients

Martyna Duda; Hubert Arasiewicz; Michał Dec

doi:10.5114/dr.2025.160175

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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6/2025
vol. 112

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Opis przypadku

Same Skin, Different Story: Exploring the Clinical Spectrum of Hypomelanosis of Ito in Two Paediatric Patients

Martyna K. Duda

¹

,

Hubert Arasiewicz

¹

,

Michał Dec

¹

Clinical Department of Pediatric Dermatology and Vascular Anomalies, Faculty of Medical Sciences in Katowice, Medical University of Silesia, John Paul II Children’s and Family Health Center, Sosnowiec, Poland

Dermatol Rev/Przegl Dermatol 2025, 112, 368-372

DOI: https://doi.org/10.5114/dr.2025.160175

Data publikacji online: 2026/02/28

Plik artykułu:

- Same Skin - Duda.pdf [1.16 MB]

Pobierz cytowanie

Metryki PlumX:

1. Saida K., Chong P.F., Yamaguchi A., Saito N., Ikehara H., Koshimizu E., et al.: Monogenic causes of pigmentary mosaicism. Hum Genet 2022, 141, 1771-1784.

2. Happle R.: Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 1993, 129, 1460-1470.

3. Bolognia J.L., Schaffer J.V., Cerroni L.: Dermatologia. Elsevier, Wrocław 2017.

4. Happle R., Assim A.: The lines of Blaschko on the head and neck. J Am Acad Dermatol 2001, 44, 612-615.

5. Pavone P., Praticò A.D., Ruggieri M., Falsaperla R.: Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 2015, 36, 1173-1180.

6. Glover M.T., Brett E.M., Atherton D.J.: Hypomelanosis of Ito: spectrum of the disease. J Pediatr 1989, 115, 75-80.

7. Ruiz-Maldonado R., Toussaint S., Tamayo L., Laterza A., Del Castillo V.: Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992, 9, 1-10.

8. Pavone P., Pappalardo X.G., Greco F., Parano C., Falsaperla R., Polizzi A., et al.: Congenital localized hypopigmentation disorders as a clue of severe neurologic involvement: an update review. J Child Neurol 2025, 40, 708-721.

9. Ardinger H.H., Bell W.E.: Hypomelanosis of Ito. Wood’s light and magnetic resonance imaging as diagnostic measures. Arch Neurol 1986, 43, 848-850.

10. Pascual-Castroviejo I., López-Rodriguez L., de la Cruz Medina M., Salamanca-Maesso C., Roche Herrero C.: Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988, 15, 124-129.

11. Kinsler V.A.: An introduction to mosaicism. In: Harper’s Textbook of Pediatric Dermatology. P. Hoeger, V. Kinsler, A. Yan, J. Harper, A. Oranje, C. Bodemer, et al. (eds.). John Wiley & Sons, Ltd, 2019, 1229-1236.

12. Carmignac V., Mignot C., Blanchard E., Kuentz P., Aubriot-Lorton M.H., Parker V.E.R., et al.: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Genet Med 2021, 23, 1484-1491.

13. El Masri R., Iannuzzo A., Kuentz P., Tacine R., Vincent M., Barbarot S., et al.: A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome. Nat Commun 2025, 16, 1751.

14. Failla P., Romano C., Schepis C.: Hypomelanosis of Ito: a syndrome requiring a multisystem approach. Australas J Dermatol 1997, 38, 65-70.

15. Ream M.: Hypomelanosis of Ito. In: Handbook of Clinical Neurology. Elsevier, 2015, 281-289.

16. Mesa-Melgarejo L., Carreño Moreno S., Chaparro-Diaz L., Quintero González L.A., Garcia-Quintero D., Carrillo-Algarra A.J., et al.: Effectiveness of a case management model for people with multimorbidity: mixed methods study. J Adv Nurs 2022, 78, 3830-3846.

Copyright: © 2026 Polish Dermatological Association. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.

Indeks osobowy

Same Skin, Different Story: Exploring the Clinical Spectrum of Hypomelanosis of Ito in Two Paediatric Patients

Martyna K. Duda 1 , Hubert Arasiewicz 1 , Michał Dec 1

Martyna K. Duda

¹

,

Hubert Arasiewicz

¹

,

Michał Dec

¹