Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) ITO type

Eight case reports

Vito Pavone, Salvatore Santo Signorelli, Andrea Domenico Pratico, Giovanni Corsello, Salvatore Savasta, Raffaele Falsaperla, Piero Pavone, Giuseppe Sessa, Martino Ruggieri

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 4.0cm (upper limbs) and 1.0 to 9.0cm (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.

Original languageEnglish
Article numbere2705
JournalMedicine (United States)
Volume95
Issue number10
DOIs
Publication statusPublished - Mar 4 2016

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Hypopigmentation
Mosaicism
Skin
Phenotype
Musculoskeletal System
Upper Extremity
Nervous System
Lower Extremity
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Pavone, V., Signorelli, S. S., Pratico, A. D., Corsello, G., Savasta, S., Falsaperla, R., ... Ruggieri, M. (2016). Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) ITO type: Eight case reports. Medicine (United States), 95(10), [e2705]. https://doi.org/10.1097/MD.0000000000002705

Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) ITO type : Eight case reports. / Pavone, Vito; Signorelli, Salvatore Santo; Pratico, Andrea Domenico; Corsello, Giovanni; Savasta, Salvatore; Falsaperla, Raffaele; Pavone, Piero; Sessa, Giuseppe; Ruggieri, Martino.

In: Medicine (United States), Vol. 95, No. 10, e2705, 04.03.2016.

Research output: Contribution to journalArticle

Pavone, V, Signorelli, SS, Pratico, AD, Corsello, G, Savasta, S, Falsaperla, R, Pavone, P, Sessa, G & Ruggieri, M 2016, 'Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) ITO type: Eight case reports', Medicine (United States), vol. 95, no. 10, e2705. https://doi.org/10.1097/MD.0000000000002705
Pavone, Vito ; Signorelli, Salvatore Santo ; Pratico, Andrea Domenico ; Corsello, Giovanni ; Savasta, Salvatore ; Falsaperla, Raffaele ; Pavone, Piero ; Sessa, Giuseppe ; Ruggieri, Martino. / Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) ITO type : Eight case reports. In: Medicine (United States). 2016 ; Vol. 95, No. 10.
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