Epidermolysis bullosa simplex with mottled pigmentation
- 1 June 1993
- journal article
- case report
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 128 (6) , 679-685
- https://doi.org/10.1111/j.1365-2133.1993.tb00265.x
Abstract
A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non‐scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. Histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.Keywords
This publication has 13 references indexed in Scilit:
- A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blisteringNature, 1992
- Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14Journal of Investigative Dermatology, 1991
- Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 1991
- Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical studyArchives of Dermatology, 1991
- Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin diseaseCell, 1991
- Epidermolysis bullosa simplex with mottled pigmentationJournal of the American Academy of Dermatology, 1989
- The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acidBiochimica et Biophysica Acta (BBA) - Biomembranes, 1988
- Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering: a clinical triad, with variable associations.British Journal of Dermatology, 1981
- Hereditary diffuse hyperpigmentationClinical and Experimental Dermatology, 1980
- Epidermolysis bullosa simplex and mottled pigmentation: A new dominant syndromeClinical Genetics, 1979