TY - JOUR
T1 - Hypomelanosis of Ito
AU - Praticò, Andrea D.
AU - Sullo, Federica
AU - Polizzi, Agata
AU - Battaglini, Chiara Maria
AU - Schepis, Carmelo
AU - Pirrone, Concetta
AU - Lacarrubba, Francesco
AU - Micali, Giuseppe
AU - Dinotta, Franco
AU - Savasta, Salvatore
AU - Commodari, Elena
AU - Salafia, Stefania
AU - Zanghì, Antonio
AU - Pascual-Castroviejo, Ignacio
AU - Ruggieri, Martino
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - hypomelanosis
KW - Ito
KW - lines of Blaschko
KW - mosaic neurocutaneous disorders
KW - neurologic complication
KW - orthopaedic
KW - seizures
UR - http://www.scopus.com/inward/record.url?scp=85054520177&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85054520177&partnerID=8YFLogxK
U2 - 10.1055/s-0038-1667206
DO - 10.1055/s-0038-1667206
M3 - Review article
AN - SCOPUS:85054520177
VL - 16
SP - 265
EP - 275
JO - Journal of Pediatric Neuroradiology
JF - Journal of Pediatric Neuroradiology
SN - 1304-2580
IS - 5
ER -