title: Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
abstract: Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended.
authors.affiliation: From the Department of Orthopaedics, AOU "Policlinico-Vittorio Emanuele," (VP, GS); Department of Clinical and Experimental Medicine, University of Catania, (SSS); Department of Biomedical and Biotechnological Sciences (ADP); Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania (ADP, MR); Department of Sciences for Health Promotion and Mother and Child Health Care, Pediatric Unit, University of Palermo, Palermo, (GC); Department of Pediatrics, IRCCS Hospital San Matteo, University of Pavia, Pavia (SS); and Unit of Paediatrics and Emergency Paediatrics, AOU "Policlinico-Vittorio Emanuele," (RF, PP) Catania, Italy.
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
authors.forename: Salvatore Santo
authors.initials: SS
authors.lastname: Signorelli
authors.forename: Andrea Domenico
authors.initials: AD
authors.lastname: Praticò
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Sessa
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis*; D007558:Italy / Q000453:epidemiology; D007621:Karyotyping; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009030:Mosaicism; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics