ABSTRACT
BACKGROUND: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI. OBJECTIVES: We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity. MATERIALS AND METHODS: We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations. RESULTS: The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > C in KRT1 was detected in all nine patients. CONCLUSION: This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.
Subject(s)
Hyperkeratosis, Epidermolytic/diagnostic imaging , Hyperkeratosis, Epidermolytic/genetics , Keratin-1/genetics , Keratoderma, Palmoplantar, Epidermolytic/genetics , Phenotype , Adult , Biopsy , Child, Preschool , DNA Mutational Analysis , Dermoscopy , Female , Humans , Hyperkeratosis, Epidermolytic/complications , Hyperkeratosis, Epidermolytic/pathology , Keratin-1/metabolism , Keratoderma, Palmoplantar, Epidermolytic/complications , Male , Microscopy, Confocal , Mutation, Missense , Pedigree , Skin/pathology , Exome SequencingABSTRACT
Este es un artículo en el que nos referimos a las verrugas plantares, qué son y cuales son los posibles tratamientos para eliminarlas. Para ello planteamos un caso clínico con un tratamiento alternativo y efectivo mediante oligoelementos, sustancias químicas presentes en pequeñas cantidades en el organismo, pero muy importantes para el mismo (AU)
This is an article about soles verrucas, what they are and how to eliminate them. For that, we share this clinic case regarding an alternative & effective treatment through trace element, chemical substances found in very small amounts in a given organism, but really important for life (AU)
Subject(s)
Humans , Female , Adult , Warts/diagnosis , Warts/therapy , Manganese/therapeutic use , Copper/therapeutic use , Warts/drug therapy , Warts/physiopathology , Keratoderma, Palmoplantar, Epidermolytic/complications , Keratoderma, Palmoplantar, Epidermolytic/therapy , Podiatry/methods , Podiatry/standardsABSTRACT
El arrugamiento acuagénico es una afección cutánea descrita en la última década. Se considera poco frecuente, característico de mujeres jóvenes eidiopático; aunque en al menos tres enfermos se ha relacionado con la toma de antiinflamatorios inhibidores selectivos de la ciclooxigenasa-2. Recientementese ha recuperado su vinculación, realizada hace más de 30 años, con la fibrosis quística, y se ha referido en tres pacientes con dicha enfermedad.Describimos un nuevo caso en un niño de 5 años con fibrosis quística, documentada con estudio genético. Discutimos su eventual consideracióncomo marcador cutáneo de la fibrosis quística (AU)
Aquagenic wrinkling is a cutaneous condition described in the last decade. It is considered to be uncommon, typical in young females and idiopathic;although it has been related with selective inhibitor of cyclooxygenasa-2 anti-inflammatory medication intake in at least three patients. Recently itsrelationship with cystic fibrosis, recognised more than 30 years earlier, has been recovered and three patients have been reported in with that disease.A new genetically documented cystic fibrosis case in a 5 year old boy is described. The eventual consideration of this condition as a cystic fibrosis cutaneousmarker is discussed (AU)
