Literature DB >> 15096145

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.

G Weiss1, Y Confino, A Shemer, H Trau.   

Abstract

We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.

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Year:  2004        PMID: 15096145     DOI: 10.1111/j.1468-3083.2004.00365.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN: 0926-9959            Impact factor:   6.166


  6 in total

Review 1.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

Review 2.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

3.  Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling.

Authors:  Anandaroop Mukhopadhyay; Suguna R Krishnaswami; Benjamin D-Y Yu
Journal:  J Invest Dermatol       Date:  2010-10-14       Impact factor: 8.551

4.  Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

Authors:  Yutaka Shimomura; Muhammad Wajid; Abraham Zlotogorski; Young-Jin Lee; Robert H Rice; Angela M Christiano
Journal:  J Invest Dermatol       Date:  2009-03-05       Impact factor: 8.551

Review 5.  Modelling inherited cardiac disease using human induced pluripotent stem cell-derived cardiomyocytes: progress, pitfalls, and potential.

Authors:  Alain van Mil; Geerthe Margriet Balk; Klaus Neef; Jan Willem Buikema; Folkert W Asselbergs; Sean M Wu; Pieter A Doevendans; Joost P G Sluijter
Journal:  Cardiovasc Res       Date:  2018-12-01       Impact factor: 10.787

6.  Cardiofaciocutaneous syndrome: a rare entity.

Authors:  S Pavithra; H Mallya; G S Pai
Journal:  Indian J Dermatol       Date:  2012-07       Impact factor: 1.494

  6 in total

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