RESUMO
BACKGROUND: The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epidemiological trends of skin manifestations and PIDs in Latin America (LA). We aimed to describe the characteristics of patients with skin manifestations and the diagnosis of a PID treated at a tertiary hospital in Colombia. METHODS: This was a retrospective observational study. Data were taken from the institutional database of pediatric PIDs, which includes 306 patients under 18 years of age who attended a tertiary care center in Cali, Colombia for inpatient or outpatient services between December 2013 and December 2018. A trained third-year dermatology resident reviewed the electronic clinical records of all the patients in the database and double-checked patients who presented with cutaneous signs and symptoms. RESULTS: A total of 83 patients out of the original 306 patients (27.1%) presented with some type of cutaneous manifestation. Of these patients, 56.6% had atopic dermatitis, 56.6% reported at least one episode of skin infection, and some of the patients had both of these manifestations. Infections were more frequent in the PID group of combined immunodeficiency associated with well-defined syndromes and atopic dermatitis in the group of antibody deficiencies. CONCLUSIONS: It is important to recognize dermatological clinical characteristics in patients with PIDs. More studies are necessary to establish recommendations regarding the approach of diagnosis and management of these patients.
RESUMO
INTRODUCTION: Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. CASE REPORT: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in ABCC9. In addition, the genotype and phenotype of the patient were compared with those of the patients reported in the literature and with other related conditions that include AFA, hypertrichosis and AFA, and CS. CONCLUSION: This is the first report of a South-American patient with mutation in ABCC9. We propose that her phenotype is a part of a spectrum of features associated with congenital hypertrichosis and mutations in ABCC9, which differs from CS and related disorders. Whole exome sequencing enabled the identification of the causality of this disease characterized by high clinical and genetic heterogeneity.