RESUMO
Langerhans cell histiocytosis (LCH) is an uncommon histiocytic disorder in adults. Clinically, this rare entity can mimic other dermatologic conditions, including hidradenitis suppurativa. A case of LCH is reported with clinical and histologic features of hidradenitis suppurativa, along with a review of these unusual findings. Clinical dermatologists and dermatopathologists benefit from awareness of this unique presentation, which may prompt earlier identification and diagnosis of adult patients with LCH.
Assuntos
Hidradenite Supurativa/etiologia , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/patologia , Adulto , Humanos , MasculinoRESUMO
The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.
Assuntos
Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/metabolismo , Cardiopatias Congênitas/genética , Defeitos dos Septos Cardíacos/genética , Síndrome do Coração Esquerdo Hipoplásico/genética , Mioblastos Cardíacos/metabolismo , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Animais , Sequência de Bases , Cromossomos Humanos Par 3 , Frequência do Gene , Estudos de Associação Genética , Variação Genética , Haploinsuficiência , Cardiopatias Congênitas/metabolismo , Proteína Homeobox Nkx-2.5 , Proteínas de Homeodomínio/metabolismo , Humanos , Recém-Nascido , Camundongos , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Deleção de Sequência , Fatores de Transcrição/metabolismoRESUMO
BACKGROUND: Consumption of nickel in the diet leads to spongiotic dermatitis in a dose-related fashion in individuals who are allergic to nickel. Dietary modification to reduce nickel intake leads to resolution of this dermatitis. OBJECTIVE: This study aims to create an evidence-based, user-friendly diet to assist patients in reducing dietary nickel intake. METHODS: Food and Drug Administration data on the nickel content of foods were combined with serving size information to calculate the upper limit of nickel per serving for a variety of foods. Based on these calculations, a point system was created that allows patients to reduce their nickel intake below the typical threshold for elicitation of the spongiotic dermatitis. CONCLUSIONS: A simplified point-based diet can help patients with dermatitis due to dietary nickel consumption.