Subject(s)
Acrodermatitis/diagnosis , Diarrhea/etiology , Acrodermatitis/complications , Acrodermatitis/congenital , Alopecia/complications , Alopecia/congenital , Alopecia/diagnosis , Diagnosis, Differential , Diarrhea/blood , Diarrhea/diagnosis , Humans , Infant , Male , Zinc/blood , Zinc/deficiencyABSTRACT
Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presented with eczematous changes on the inguinal area and knees and was diagnosed with AE. Blood tests revealed a markedly decreased level of plasma zinc, and his symptoms improved on oral zinc replacement. To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). Family study showed that his parents were heterozygous carriers of the mutations. To the best of our knowledge, this is the first report of genetically confirmed AE in Korea.
Subject(s)
Cation Transport Proteins/genetics , Zinc/deficiency , Acrodermatitis/congenital , Acrodermatitis/diagnosis , Acrodermatitis/genetics , Alternative Splicing , Chromosomes, Human, Pair 8 , Heterozygote , Humans , Infant , Male , Mutation, Missense , Sequence Analysis, DNA , Zinc/bloodABSTRACT
Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presented with eczematous changes on the inguinal area and knees and was diagnosed with AE. Blood tests revealed a markedly decreased level of plasma zinc, and his symptoms improved on oral zinc replacement. To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). Family study showed that his parents were heterozygous carriers of the mutations. To the best of our knowledge, this is the first report of genetically confirmed AE in Korea.
Subject(s)
Humans , Infant , Male , Acrodermatitis/congenital , Alternative Splicing , Cation Transport Proteins/genetics , Chromosomes, Human, Pair 8 , Heterozygote , Mutation, Missense , Sequence Analysis, DNA , Zinc/bloodABSTRACT
El edema hemorrágico agudo del lactante (EHAL) es una rara vasculitis leucocitoclástica que afecta a lactantes y niños hasta los 3 años de edad. Cursa con un cuadro clínico caracterizado por la rápida aparición de una extensa púrpura palpable, pero su pronóstico generalmente es muy bueno. Presentamos el caso de un lactante con EHAL y comentamos las similitudes y las diferencias que guarda este cuadro con la púrpura de Schonlein-Henoch (AU)
The acute hemorrhagic edema of infancy (AHEI) is an unusual variant of leukocitoclastic vasculitis affecting infants and children up to three years of age. Clinically it is characterised by a large palpable purpura with a dramatic appearance but an usually benign course. We present an infant with AHEI and compare this disorder with the Schonlein-Henoch purpura (AU)
Subject(s)
Child , Humans , Infant, Newborn , Edema/metabolism , Edema/pathology , Shock, Hemorrhagic/pathology , Vasculitis/complications , Vasculitis/genetics , Acrodermatitis/congenital , Acrodermatitis/complications , Edema/complications , Edema/diagnosis , Shock, Hemorrhagic/genetics , Shock, Hemorrhagic/metabolism , Vasculitis/metabolism , Vasculitis/psychology , Acrodermatitis/metabolismABSTRACT
La acrodermatitis enteropática es una enfermedad autosómica recesiva debida a una malabsorción de zn. Es de poca frecuencia y sus manifestaciones se observan en general desde los primeros meses de vida a las pocas semanas de suspender la lactancia materna. Presentamos una paciente de sexo femenino de 16 meses dwe edad que comenzó con lesiones eritematoescamosas perioficiales, en dorso de dedos de pies, en talones y hueco poplíteo. En dorso de dedos de manos lesiones redondeadas eritematosas, papulosas y algunas de aspecto ampollar. Hiperqueratosis periungueal tanto en mmanos como pies. Cabello escaso y rojizo. Presentaba deposiciones desligadas. Con sospecha de acrodermatitis enteropática se realizaron estudios de laboratorio y biopsia cutánea que confirmaron el diágnostica. Se comenzó con tyerapia de reemplazo con sulfato de zn con evidente mejoría clínica.(AU)
Subject(s)
Humans , Female , Infant , Acrodermatitis/congenital , Acrodermatitis/diagnosis , Acrodermatitis/therapy , Zinc/administration & dosage , Zinc/therapeutic useABSTRACT
The importance of the presence of zinc in human physiology and pathology has been analysed. The disturbances in the prostaglandin synthesis in the impaired intestinal zinc absorbtion have been of special interest. It is known that the deficiency of zinc results in the inborn clinical syndrome oh he disease and both its past and present treatment methods.
