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Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri-Happle syndrome)

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Abstract:

Abstract Background: 

The term cutis tricolor describes the combination of congenital hyper- and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (iii) as a distinct type [cutis tricolor parvimaculata]; (iv) in association with other (e.g. vascular) skin disturbances. Objectives: 

To delineate the spectrum of skeletal defects in cutis tricolor. Methods: 

Retrospective and prospective analysis of skeletal surveys in 14 subjects (eight men; six women; aged 2–28 years) with cutis tricolor [4 purely cutaneous trait; 10 syndromic (RHS)]. Results: 

Bone abnormalities were recorded in 71.4% (10/14) of patients [100% (10/10) of cases with (other-than-skeletal) extra-cutaneous manifestations vs. null (0/4) in cases with purely cutaneous traits] and included overall small skull (n = 6); prognathism (n = 6); ‘J’-shaped pituitary fossa (n = 1); absence of atlas posterior arch (n = 3); frontal bossing (n = 6); scoliosis (n = 9) with kyphosis (n = 6) and/or lordosis (n = 6); vertebral (n = 9) and ribs (n = 4) defects. Negative ZFHX1B gene analyses excluded overlaps with Mowat–Wilson syndrome. Conclusions: 

Cutis tricolor may be a marker of underlying skeletal involvement particularly in subjects with a complex syndromic (RHS) phenotype.

Keywords: Cutis tricolor; Ruggieri-Happle syndrome; Skeletal dysplasia

Document Type: Research Article

DOI: http://dx.doi.org/10.1111/j.1651-2227.2010.01970.x

Affiliations: 1: .Chair of Pediatrics, Department of Formative Processes and Unit of Clinical Neurosurgery, University of Catania, Italy 2: .Radiology Unit, Institute of Paediatrics, University ‘La Sapienza’, Rome, Italy 3: .Institute of Human Genetics, Westfaelische Wilhelms-University of Munster, Germany 4: .National Centre for Rare Diseases, Superior Institute of Health, Rome, Italy 5: .Institute of Neurological Science (ISN), National Research Council (CNR), Catania, Italy 6: .Institute of Orthopaedics, University Hospital ‘Vittorio Emanuele’, University of Catania, Italy

Publication date: January 1, 2011

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