We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.
[Show abstract][Hide abstract] ABSTRACT: Background Basal epidermolysis bullosa simplex (EBS) is a hereditary skin blistering disorder resulting in most cases from missense mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes.
Objectives To identify the underlying mutations in different EBS subtypes and correlate genotype and phenotype.
Methods Mutation analysis was performed in 53 patients with EBS and their families by direct sequencing of the KRT5 and KRT14 genes.
Results We identified 39 different mutations, of which 15 have not been published previously. Three novel deletion/insertion mutations, among them one in-frame duplication, were associated with the rare phenotype of EBS with mottled pigmentation. We identified for the first time a patient with compound heterozygosity for KRT5 mutations causing Dowling–Degos disease and EBS.
Conclusions Identification of novel mutations and genotype–phenotype correlations in EBS allow improved understanding of disease pathogenesis as well as better patient management.
British Journal of Dermatology 05/2010; 162(6):1365 - 1369. DOI:10.1111/j.1365-2133.2010.09657.x · 4.28 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A group of pigment disorders is included under the denomination of "dyschromatosis". Dyschromatosis symmetrica hereditaria is a dominant autosomal genodermatosis mostly reported in Eastern countries. It has been rarely reported in nonoriental races and spontaneous cases are scarce. We report a spontaneous case in the West, a boy 6 years of age, with a typical presentation and who was confused initially with vitiligo.
International journal of dermatology 08/2010; 49(8):918-20. DOI:10.1111/j.1365-4632.2010.04472.x · 1.31 Impact Factor
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