Literature DB >> 7615885

Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.

D Bruch1, M Megahed, F Majewski, T Ruzicka.   

Abstract

X-linked dominant chondrodysplasia punctata is a rare genodermatosis characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We describe the case of a 32-year-old woman with ichthyotic skin lesions that developed during early childhood and persisted into adulthood. Psoriasiform skin changes became evident for the first time during adulthood. Both the ichthyotic and psoriasiform skin lesions followed Blaschko's lines. This case is unique because of the coexistence of ichthyotic and psoriasiform skin changes in an adult with X-linked dominant chondrodysplasia punctata.

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Year:  1995        PMID: 7615885     DOI: 10.1016/0190-9622(95)91433-1

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  3 in total

1.  New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Authors:  Mathilde Pacault; Marie Vincent; Thomas Besnard; Caroline Kannengiesser; Claire Bénéteau; Sébastien Barbarot; Xénia Latypova; Khaldia Belabbas; Antonin Lamazière; Norbert Winer; Madeleine Joubert; Stéphane Bézieau; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Stéphanie Leclerc-Mercier; Smail Hadj-Rabia; Fabienne Dufernez
Journal:  Eur J Hum Genet       Date:  2018-08-22       Impact factor: 4.246

2.  Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Authors:  Akito Hasegawa; Satoru Shinkuma; Ryota Hayashi; Yutaka Shimomura; Riichiro Abe
Journal:  Acta Derm Venereol       Date:  2021-09-15       Impact factor: 3.875

3.  Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.

Authors:  Kemal Ozyurt; Asli Subasioglu; Perihan Ozturk; Rahime Inci; Fuat Ozkan; Elena Bueno; Javier Cañueto; Rogelio González Sarmiento
Journal:  Indian J Dermatol       Date:  2015 Mar-Apr       Impact factor: 1.494

  3 in total

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