Cutis Tricolor

Martino Ruggieri; Agata Polizzi; Andrea D. Praticò; Selene Mantegna; Chiara Maria Battaglini; Concetta Pirrone; Mario Roggini; Francesco Lacarrubba; Giuseppe Micali; Elena Commodari; Antonio Zanghì; Ingo Kennerknecht; Carmelo Schepis

doi:10.1055/s-0038-1667013

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

¹Unit 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

²Institute of Neurological Sciences, National Research Council, Catania, Italy

,

Andrea D. Praticò

¹Unit 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

³Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

,

Selene Mantegna

¹⁰Post-graduate School of Pediatrics, Anna Meyer Children's University Hospital, Department of Health Science University of Florence, Florence, Italy

,

Chiara Maria Battaglini

¹Unit 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

⁴Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy

,

Mario Roggini

⁵Department of Pediatrics and Child Neuropsychiatry, Section of Pediatric Radiology, La Sapienza University, Rome, Italy

,

Francesco Lacarrubba

⁶Dermatology Clinic, University of Catania, Catania, Italy

,

Giuseppe Micali

⁶Dermatology Clinic, University of Catania, Catania, Italy

,

Elena Commodari

⁴Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy

,

Antonio Zanghì

⁷Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania Italy

,

Ingo Kennerknecht

⁸Institute of Human Genetics, University of Munster, Munster, Germany

,

Carmelo Schepis

⁹Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy

› Institutsangaben

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

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Referenzen

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