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

Acitretin / administration & dosage Administration, Cutaneous Administration, Oral Adolescent Child Child, Preschool Costello Syndrome / diagnosis Diagnosis, Differential Ectodermal Dysplasia / diagnosis Facies Failure to Thrive / diagnosis Female France Genetic Association Studies Heart Defects, Congenital / diagnosis Humans MAP Kinase Kinase 1 / genetics MAP Kinase Kinase 2 / genetics Male Mutation Noonan Syndrome / diagnosis Prospective Studies Proto-Oncogene Proteins B-raf / genetics Sirolimus / administration & dosage Treatment Outcome Young Adult

Journal

The British journal of dermatology

ISSN: 1365-2133

Titre abrégé: Br J Dermatol

Pays: England

ID NLM: 0004041

Informations de publication

Date de publication:
01 2019

Historique:

accepted: 22 07 2018

pubmed: 25 8 2018

medline: 18 12 2019

entrez: 25 8 2018

Statut: ppublish

Résumé

Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. 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. We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. 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. A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.

Sections du résumé

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.

Identifiants

DOI: 10.1111/bjd.17077 PMID: 30141192

pubmed: 30141192

doi: 10.1111/bjd.17077

doi:

Substances chimiques

MAP2K2 protein, human EC 2.7.1.-

BRAF protein, human EC 2.7.11.1

Proto-Oncogene Proteins B-raf EC 2.7.11.1

MAP Kinase Kinase 1 EC 2.7.12.2

MAP Kinase Kinase 2 EC 2.7.12.2

MAP2K1 protein, human EC 2.7.12.2

Acitretin LCH760E9T7

Sirolimus W36ZG6FT64

Types de publication

Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

Pagination

172-180

Commentaires et corrections

Type : CommentIn