Hypomelanosis of Ito

Andrea D. Praticò; Federica Sullo; Agata Polizzi; Chiara Maria Battaglini; Carmelo Schepis; Concetta Pirrone; Francesco Lacarrubba; Giuseppe Micali; Franco Dinotta; Salvatore Savasta; Elena Commodari; Stefania Salafia; Antonio Zanghì; Ignacio Pascual-Castroviejo; Martino Ruggieri

doi:10.1055/s-0038-1667206

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 265-275
DOI: 10.1055/s-0038-1667206

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Hypomelanosis of Ito

Authors

Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy

²Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
Federica Sullo

¹Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
Agata Polizzi

³Institute of Neurological Sciences, National Research Council, Catania, Italy
Chiara Maria Battaglini

¹Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
Carmelo Schepis

⁴Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
Concetta Pirrone

⁵Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
Francesco Lacarrubba

⁶Dermatology Clinic, University of Catania, Catania, Italy
Giuseppe Micali

⁶Dermatology Clinic, University of Catania, Catania, Italy
Franco Dinotta

⁶Dermatology Clinic, University of Catania, Catania, Italy
Salvatore Savasta

⁷Department of Pediatrics, Fondazione Policlinico San Matteo IRCCS, University of Pavia, Pavia, Italy.
Elena Commodari

⁵Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
Stefania Salafia

⁸Unit of Pediatrics, Lentini Hospital, Lentini, Italy
Antonio Zanghì

⁹Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
Ignacio Pascual-Castroviejo

¹⁰Servicio de Neurología, Hospital Universitario La Paz, Madrid, España
Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy

Abstract

Hypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

Keywords

hypomelanosis - Ito - lines of Blaschko - neurologic complication - seizures - orthopaedic - mosaic neurocutaneous disorders

Full Text

References

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