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Br J Dermatol. 2019 Jan;180(1):172-180. doi: 10.1111/bjd.17077. Epub 2018 Sep 30.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Author information

1
Department of Dermatology, Saint-Eloi Hospital, University of Montpellier, Montpellier, France.
2
INSERM U1058, Montpellier, France.
3
Department of Pediatric Dermatology, Pellegrin University Hospital of Bordeaux, Bordeaux, AP-HP, France.
4
Department of Pediatric Dermatology, Robert-Debré Hospital, AP-HP, Paris, France.
5
Department of Clinical Genetics, Sud Hospital and University Hospital of Rennes, Rennes, France.
6
Department of Statistics, La Colombière Hospital and University of Montpellier, Montpellier, France.
7
Department of Clinical Genetics, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.
8
Department of Dermatology, Brabois Hospital, University of Nancy, Nancy, France.
9
Department of Dermatology, L'Archet 2 Hospital and University of Nice, Nice, France.
10
Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.
11
Department of Clinical Genetics, L'Archet 2 Hospital and University of Nice, Nice, France.
12
Department of Pediatric Dermatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
13
Department of Clinical Genetics, Femme-Mère-Enfant Hospital, University of South Reunion, Saint-Pierre, Réunion, France.
14
Department of Clinical Genetics, Pellegrin University Hospital of Bordeaux, Bordeaux, AP-HP, France.
15
Department of Clinical Genetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
16
Department of Dermatology, La Timone Hospital, AP-HM and University of Marseille, Marseille, France.
17
Department of Dermatology, Larrey Hospital, Reference Center for Rare Skin Diseases, University of Toulouse, Toulouse, France.
18
Department of Pediatric Dermatology, Femme-Mère-Enfant Hospital, University of South Reunion, Saint-Pierre, Réunion, France.
19
Department of Dermatology, University of Rennes, Rennes, France.
20
Department of Molecular Genetics and Biology, Cochin Hospital, AP-HP, University Paris V, Paris, France.
21
Department of Clinical Genetics, La Timone Hospital, AP-HM and University of Marseille, Marseille, France.
22
Department of Genetic Biochemistry, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.
23
INSERM U1183, Montpellier, France.

Abstract

BACKGROUND:

Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification.

OBJECTIVES:

To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations.

METHODS:

We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study.

RESULTS:

Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype-genotype correlation was determined.

CONCLUSIONS:

A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.

PMID:
30141192
DOI:
10.1111/bjd.17077

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