HistoryThis section has been translated automatically.
Hallopeau, 1896; Siemens, 1921
DefinitionThis section has been translated automatically.
Congenital, autosomal recessive inherited, generalized, severe blistering dermatosis with spontaneous and post-traumatic blistering and severe mutating scarring.
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EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance. A homozygous or compound heterozygous mutation of the COL7A1 gene mapped on chromosome 3p21.3. The mutation leads to reduced or absent synthesis of collagen type VII.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
- Large-area blisters (100%) with serous or hemorrhagic content and irregularly configured large-area erosions (100%), which heal by scarring, reepithelialize hesitantly and may lead to severe disabilities due to mutilation and synechia.
- Clinically significant is the tendency to spontaneous or post-traumatic blistering (the trauma involved defines the location of the lesions) with positive Nikolski Phenomenon I, hyperpigmentation and depigmentation. Onychodystrophy (100%)
- Milia in healed lesions (100%)
- Extracutaneous manifestations:
- Pronounced involvement of conjunctiva, oral, pharyngeal, oesophageal and genital mucosa
- Shortening of the frenulum linguae (almost always detectable).
- Enamel defects and caries (10-25%), skeletal hypoplasia, brain damage, speech disorders, severe contractures.
- Growth retardation (100%): height and weight are often less than that of peers.
HistologyThis section has been translated automatically.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
- Symptomatic. Antiseptic and wound-healing externals (see Epidermolysis bullosa group below). Prevention and treatment of secondary infections.
- Experimental vitamin E therapy (e.g. Evit Kps.) Infants: 25 mg/kg bw/day, adults: 600-1200 mg/kg bw/day, or collagenase inhibitors such as phenytoin (e.g. Zentropil, Epanutin) initially 2-3 mg/kg bw/day in 2 doses over 10-14 days, followed by a gradual dose increase up to a blood level of at least 8 μg/ml. Effectiveness can only be assessed after 6 months.
- Limited success has been described for DADPS, retinoids, chloroquine or Ciclosporin A.
General therapyThis section has been translated automatically.
- Avoidance of mechanical irritation and pressure points on the skin. Diet rich in vitamins and minerals.
- Mucous membrane defects (20% of patients) can lead to restricted food intake! Continuous and early dental care (malformation, caries).
- Lifelong control for spinocellular carcinomas.
- Surgical measures in case of synechia and contractures.
- Early physiotherapy to avoid contractures.
Progression/forecastThis section has been translated automatically.
Unfavourable: danger of sepsis, esophageal stenosis, possible development of carcinomas (already at the age of 20-30 years) in the area of tight scarring.
Note(s)This section has been translated automatically.
Diagnostics: Clinical, histology, immunofluorescence, electron microscopy, molecular genetic examination, prenatal diagnostics if necessary.
LiteratureThis section has been translated automatically.
- Anton-Lamprecht I (1981) Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet 2: 1077-1079
- Csikos M (2003) Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. Clin Exp Dermatol 28: 163-166
- del-Rio E (1993) Prevention of blisters in dystrophic epidermolysis bullosa with Ciclosporine. J Am Acad Dermatol 29: 1038-1039
- Fine JD et al (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-950
- Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
- Hallopeau FH (1890) Sur une dermatose bulleuse infantile avec cicatrices indélébiles, kystes epidermiques et manifesstations buccales. Annales de dermatologie et de syphilographie, (Paris) 1: 414
- Herlitz O (1935) Congenital non-syphilitic pemphigus: An overview and description of a new form of the disease. Acta Paediat 17: 315-371
- Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 235-236
- Horn HM et al (2002) The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 146: 267-274
- Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134
- Kon A et al (1998) Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 111: 534-537
- Siemens HW (1921) Introduction to the general and special hereditary pathology of humans. (Berlin) 2nd edition.
- Wollina U (2001) Recessive epidermolysis bullosa dystrophicans (Hallopeau-Siemens)--improvement of wound healing by autologous epidermal grafts on an esterified hyaluronic acid membrane. J Dermatol 28: 217-220
Incoming links (7)Aa-type amyloidosis; Anonychie acquired; Dermolytic bullous dermatosis (recessive); Epidermolysis bullosa dystrophica recessive non-hallopeau-siemens; Hallopeau-siemens syndrome; Sepsis skin changes; Siemens, hermann werner;
Outgoing links (11)Chloroquine; Ciclosporin a; Dadps; Depigmentation; Epidermolysis bullosa hereditaria (overview); Hyperpigmentation; Milia (overview); Nikolsky phenomenon i; Onychodystrophy (overview); Phenytoin; ... Show all
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