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Journal of Pediatric Neurology 2018; 16(05): 276-281
DOI: 10.1055/s-0038-1667013
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Cutis Tricolor

Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy
,
Agata Polizzi
2   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy
3   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Selene Mantegna
10   Post-graduate School of Pediatrics, Anna Meyer Children's University Hospital, Department of Health Science University of Florence, Florence, Italy
,
Chiara Maria Battaglini
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy
,
Concetta Pirrone
4   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Mario Roggini
5   Department of Pediatrics and Child Neuropsychiatry, Section of Pediatric Radiology, La Sapienza University, Rome, Italy
,
Francesco Lacarrubba
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Elena Commodari
4   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Antonio Zanghì
7   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania Italy
,
Ingo Kennerknecht
8   Institute of Human Genetics, University of Munster, Munster, Germany
,
Carmelo Schepis
9   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
› Author Affiliations
Further Information

Publication History

03 January 2018

11 May 2018

Publication Date:
20 August 2018 (online)

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Abstract

Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches, or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon. This phenomenon has been reported so far as a purely cutaneous trait, as a part of a complex malformation phenotype (Ruggieri–Happle syndrome), which includes distinct facial features, cataract, skull and vertebral defects, long bones dysplasia, corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly, and other systemic abnormalities. Cutis tricolor has been also reported as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) or in association with other skin disturbances (e.g., phacomatosis achromico-melano-marmorata) or in the context of other neurocutaneous phenotypes (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis) or as a sign of complex malformation phenotypes (e.g., microcephaly and dwarfism). More than 20 studies reporting 40 cases are present in the literature with pure cutaneous or syndromic cutis tricolor phenomena and are analyzed in the present study, confirming and expanding the overall phenotype of cutis tricolor. In particular, (1) the skin abnormalities of the cutis tricolor do not evolve over time; (2) there is a typical facial phenotype with long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose, and anteverted nostrils; (3) the skeletal defects are mild-to-moderate and do not progress or cause relevant orthopedic complications; (4) the neurological/behavioral phenotype does not progress and the paroxysmal events (if present) tend to decrease over time; (5) only three patients developed early onset (treatable) cataracts. Different pathologic hypotheses have been postulated, including, early or late postzygotic mutations involving the same gene loci (in the context of the so-called dydymotic theory): such mechanisms can explain the overall skin, bone, lens, and nervous system phenomena of migration of different streaks of clones in the different tissues.

Keywords

cutis tricolor - review - hyperpigmented macules - hypopigmented macules - skeletal anomalies