Epidermolysis bullosa dystrophica recessive (hallopeau-siemens) Q81.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Dermolytic bullous dermatosis (recessive); Epidermolysis bullosa dystrophica generalisata Hallopeau-Siemens; Epidermolysis bullosa dystrophica recessiva seu polydysplastica; Epidermolysis bullosa hereditaria dystrophica; epidermolysis bullosa hereditaria polydysplastica; Hallopeau-Siemens Syndrome

History
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Hallopeau, 1896; Siemens, 1921

Definition
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Congenital, autosomal recessive inherited, generalized, severe blistering dermatosis with spontaneous and post-traumatic blistering and severe mutating scarring.

Etiopathogenesis
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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.

Localization
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Mechanically strained parts of the body, especially acra, mucous membranes, buttocks.

Clinical features
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  • Integument:
    • 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.

Histology
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Subepidermal bladder. Electron microscopic: dermolytic blister formation below the lamina densa. Missing anchoring fibrils.

Differential diagnosis
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Other forms of the Epidermolysis bullosa group.

Therapy
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  • 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 therapy
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  • 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/forecast
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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)
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Diagnostics: Clinical, histology, immunofluorescence, electron microscopy, molecular genetic examination, prenatal diagnostics if necessary.

Literature
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  1. Anton-Lamprecht I (1981) Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet 2: 1077-1079
  2. Csikos M (2003) Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. Clin Exp Dermatol 28: 163-166
  3. del-Rio E (1993) Prevention of blisters in dystrophic epidermolysis bullosa with Ciclosporine. J Am Acad Dermatol 29: 1038-1039
  4. 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
  5. Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
  6. 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
  7. Herlitz O (1935) Congenital non-syphilitic pemphigus: An overview and description of a new form of the disease. Acta Paediat 17: 315-371
  8. Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 235-236
  9. Horn HM et al (2002) The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 146: 267-274
  10. Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134
  11. Kon A et al (1998) Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 111: 534-537
  12. Siemens HW (1921) Introduction to the general and special hereditary pathology of humans. (Berlin) 2nd edition.
  13. 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

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Last updated on: 29.10.2020