Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations.
Br J Dermatol
; 182(2): 405-409, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31120137
ABSTRACT
BACKGROUND:
Erdheim-Chester disease (ECD) is a rare condition and there is limited information available regarding its cutaneous manifestations.OBJECTIVES:
To describe the clinical and histopathological features of cutaneous involvement in ECD.METHODS:
This study is a single-centre retrospective analysis of patients 18 years old and older with biopsy-proven diagnosis of ECD between 1 January 1990 and 1 April 2017. Patients from this cohort were screened for cutaneous manifestations, and BRAF c.1799T>A (p.V600E) mutational analysis was conducted in novel skin manifestations. Primary outcomes included cutaneous manifestations (morphology and topography of lesions) and BRAF mutation status in novel cutaneous findings.RESULTS:
Of 71 patients with ECD, 15 patients (21%; median age 52 years) presented with cutaneous manifestations. The most common finding was the presence of xanthelasma-like lesions (n = 8). Two patients had nonfacial cutaneous xanthomas. Seven patients presented with nonxanthomatous cutaneous involvement, with the most common finding being subcutaneous nodules (n = 5). A single patient presented with granuloma annulare-like lesions. Another patient with mixed ECD and Langerhans cell histiocytosis presented with lightly scaling, pink-red macules. In three patients, the appearance of skin lesions was the first manifestation of the disease. Most patients presented with bone/extremity pain, weight loss and other constitutional symptoms at the time of diagnosis. The BRAF V600E mutation was not found in patients with panniculitis-like and granuloma annulare-like lesions.CONCLUSIONS:
The most common presentation in ECD is the presence of periorbital xanthelasma-like lesions. Other presentations include nonfacial cutaneous xanthomas, panniculitis-like lesions and granuloma annulare-like lesions. Associated symptoms at presentation include bone/extremity pain and weight loss. What's already known about this topic? Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis characterized by lipid-laden macrophage infiltration of tissue and subsequent fibrosis. Cutaneous involvement is found in approximately 25% of patients, with the majority presenting with periorbital xanthelasma-like lesions. What does this study add? We report two novel cutaneousfindings:
panniculitis-like lesions and granuloma annulare-like lesions. Associated bone/extremity pain and weight loss should raise suspicion for Erdheim-Chester disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Histiocitose de Células de Langerhans
/
Doença de Erdheim-Chester
Tipo de estudo:
Observational_studies
Limite:
Adolescent
/
Humans
/
Middle aged
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Estados Unidos