Cutis Tricolor-Like Pigmentary Mosaicism in Mowat-Wilson Syndrome: Phenotypic Overlap With Ruggieri-Happle Syndrome.

Didier Bessis, Pierre Meyer, Marjolaine Willems

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Article in Pediatric dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 authors.

Didier BessisDepartment of Dermatology, University of Montpellier, Reference Centre for Rare Skin Diseases (MAGEC-Sud), Saint-Eloi Hospital, CHU Montpellier, Montpellier, France.ORCID https://orcid.org/0000-0002-3815-5417

Pierre MeyerDepartment of Paediatric Neurology, University of Montpellier, CHU Montpellier, Montpellier, France.

Marjolaine WillemsDepartment of Medical Genetics, University of Montpellier, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, CHU Montpellier, Montpellier, France.ORCID https://orcid.org/0000-0002-2959-0935

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6 · The paper itself

Abstract

Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri-Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects. We report a 16-year-old girl with molecularly confirmed Mowat-Wilson syndrome caused by a de novo pathogenic ZEB2 frameshift variant, who presented with extensive CT-like pigmentary mosaicism and marked phenotypic overlap with RHS. Brain MRI disclosed bilateral microphthalmia, optic nerve hypoplasia, coloboma, a shortened corpus callosum, a brainstem segmentation defect, and inferior vermian hypoplasia. This observation expands the cutaneous phenotype of ZEB2-related disease and suggests possible shared developmental pathways between Mowat-Wilson syndrome and RHS.

Indexed as

Abnormalities, MultipleEctodermal DysplasiaHirschsprung DiseaseIntellectual DisabilityMicrocephalyMosaicismZinc Finger E-box Binding Homeobox 2AdolescentCraniofacial AbnormalitiesFaciesFemaleHumansMagnetic Resonance ImagingMicrophthalmosMuscular AtrophyPhenotypeZEB2 protein, humanZinc Finger E-box Binding Homeobox 2cutis tricolorMowat–Wilson syndromeRuggieri–Happle syndromeZEB2

Identifiers

PMID42289242

DOI10.1111/pde.70294

PMCPMC13617161

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