Synonym(s)
Epidermolysis bullosa simplex with mottled pigmentation
HistoryThis section has been translated automatically.
Fischer and Gedde-Dahl, 1979
DefinitionThis section has been translated automatically.
Extremely rare, generalized familial form from the epidermolysis bullosa simplex group with generalized blistering, nail dystrophies and patchy hyper- and depigmentation.
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EtiopathogenesisThis section has been translated automatically.
Autosomal dominant inheritance of mutations in KRT5 (keratin 5 gene) and KRT14 (keratin 14 gene) mapped to gene locus 12q13 (see below Keratins). This results in disturbances in the keratin filament network ( cytoskeleton) of the basal keratinocytes.
ManifestationThis section has been translated automatically.
Start shortly after birth.
LocalizationThis section has been translated automatically.
On hands, feet, trunk and head.
Clinical featuresThis section has been translated automatically.
- Integument: Serous or haemorrhagic, often herpetiform grouped blisters of various sizes, which are triggered by solid mechanical stimuli, and 0.2-0.5 cm hyper- or hypopigmented spots on the entire integument. The "mottled" pigmentation on the neck, abdomen, upper arms and thighs is particularly clear.
- Tendency to pressure points on the lower legs. The mucous membranes are free of appearance with the exception of the oral mucosa traumatized by food intake.
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Other side effects
- Diffuse palmoplantar keratoses or punctiform palmar keratoses
- Hyperhidrosis and
- Nail dystrophies are frequent accompanying phenomena.
- Extracutaneous manifestations: enamel anomalies, caries.
HistologyThis section has been translated automatically.
- Epidermolytic blistering.
- Electron microscopic: Intracellular cytolysis above the hemidesmosomes in the basal keratinocytes.
TherapyThis section has been translated automatically.
No specific therapy known. External symptomatic therapy depending on the clinic, see below Epidermolysis bullosa group.
Progression/forecastThis section has been translated automatically.
With age the blistering decreases; hyperpigmentation and hypopigmentation remain.
LiteratureThis section has been translated automatically.
- Fischer T, Gedde-Dahl T Jr (1979) Epidermolysis bullosa simplex with mottled pigmentation: a new dominant syndrome. I. Clinical and histological features. Clin Genet 15: 228-238
- Irvine AD et al (2001) Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 144: 40-45
- Höger P (2005) Pediatric dermatology. Schattauer publishing house, Stuttgart p. 225-226
- Moog U et al (1999) Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 86: 376-379
- Uttam J et al (1996) The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci U S A 93: 9079-9084
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Incoming links (4)
Epidermolysis bullosa simplex with mottled pigmentation; Keratin; KRT14 Gene; Reticular hyperpigmentations;Outgoing links (6)
Cytoskeleton; Epidermolysis bullosa hereditaria (overview); Epidermolysis bullosa simplex generalized intermediaries (köbner); Keratin; KRT14 Gene; KRT5 Gene;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer