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- W1569056202 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." @default.
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- W1569056202 date "2010-12-08" @default.
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- W1569056202 title "Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri-Happle syndrome)" @default.
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- W1569056202 doi "https://doi.org/10.1111/j.1651-2227.2010.01970.x" @default.
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