Associated Papers
Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?
Valinotto LE et al.
Acta Dermato-venereologica, 2025
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema.
Yalici-Armagan B et al.
Pediatric Dermatology, 2020
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
Updated review of genetic reticulate pigmentary disorders.
Zhang J et al.
The British Journal of Dermatology, 2017
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.
Kumagai Y et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.
Castiglia D et al.
Acta Dermato-venereologica, 2014
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.
Guo L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2012
Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.
Arnold AW et al.
Dermatology (basel, Switzerland), 2012
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC et al.
The British Journal of Dermatology, 2011
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.
Trufant JW et al.
Journal of Cutaneous Pathology, 2010
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.
Tang HY et al.
Clinical and Experimental Dermatology, 2009
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
Coulombe PA et al.
The Journal of Clinical Investigation, 2009
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
Horiguchi Y et al.
The Journal of Investigative Dermatology, 2005
Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation.
Gu LH et al.
Molecular Biology of the Cell, 2005
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.
Nagao-Watanabe M et al.
Clinical Genetics, 2004
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
Gu LH et al.
The Journal of Investigative Dermatology, 2003
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
Pascucci M et al.
European Journal of Dermatology : Ejd, 0
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
Echeverría-García B et al.
Pediatric Dermatology, 0
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.
Geller L et al.
Pediatric Dermatology, 0
Multiple hair whorls in a child with normal cranial and neurologic development.
Malathi M et al.
Pediatric Dermatology, 0