EBJ Herlitz

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Classification according to ICD-10
Q81.1 Epidermolysis bullosa atrophicans gravis - Herlitz syndrome
ICD-10 online (WHO version 2019)

The EBJ Herlitz , the type of junctional Herlitz epidermolysis bullosa (JEB-H) is a rare congenital severe form of junctional epidermolysis bullosa with blistering and extensive changes in the skin and mucous membranes , with the exception of the esophagus .

Synonyms are: Epidermolysis bullosa junctionalis, Herlitz-Pearson type; JEB-H, more severe form; Epidermolysis bullosa atrophicans generalisata gravis; Epidermolysis bullosa letalis; JEB, generalized severe; JEB-H; EBJ gravis Herlitz; Epidermolysis bullosa gravis; Epidermolysis bullosa hereditaria letalis; Herlitz syndrome; congenital nonsyphilitic pemphigus; Pemphigus congenital non-syphilitic

The name refers to the first authors of the first description from 1935 by Gillis Herlitz (* 1944).

distribution

The frequency is given as 1 to 9 in 1,000,000, inheritance is autosomal - recessive . About 20% of patients with junctional epidermolysis bullosa have the more severe Herlitz type.

The disease can also occur with pyloric atresia .

root cause

The disease are mutations in LAMA3 - gene on chromosome 18 locus q11.2, in LAMB3 gene on chromosome 1 locus q32.2 or LAMC2 gene on chromosome 1 locus q25.3 basis which for -5 laminin encode.

The absence of this laminin 5 in the skin leads to pronounced fragility of the skin with the formation of gaps along the basement membrane .

Clinical manifestations

Clinical criteria are:

diagnosis

Typical findings are:

  • Gap formation within the lamina lucida of the cutaneous basement membrane
  • Lack of staining of laminin-332 in immunofluorescence

By detecting the mutation, the diagnosis can be confirmed and, in the case of high-risk pregnancies, recorded prenatally.

Differential diagnosis

There are other forms of epidermolysis bullosa , in particular epidermolysis bullosa junctionalis and impetigo .

therapy

Treatment has so far only been possible symptomatically. Certain forms of stem cell therapy can be helpful.

Prospect of healing

The prognosis is unfavorable; most of those affected die in the first few years of life from failure to thrive, respiratory failure, sepsis and pneumonia. Squamous cell carcinoma can also rarely occur.

In animals

The disease can also occur in animals.

literature

  • M. Laimer, CM Lanschuetzer, A. Diem, JW Bauer: Herlitz junctional epidermolysis bullosa. In: Dermatologic clinics. Volume 28, number 1, January 2010, pp. 55-60, doi : 10.1016 / j.det.2009.10.006 , PMID 19945616 (review).
  • K. Parsapour, MD Reep, L. Mohammed, A. Church, T. Shwayder: Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB. In: Pediatric dermatology. Volume 18, Number 3, 2001 May-Jun, pp. 217-222, PMID 11438002 .
  • P. Schmid, O. Tönz, A. Vogel, UW Schnyder: [Herlitz, severe generalized atrophic epidermolysis bullosa. Description and genealogic clarification of 4 new cases from Unterwalden canton]. In: Swiss medical weekly. Volume 111, Number 17, April 1981, pp. 603-612, PMID 7221521

Individual evidence

  1. ↑ a b c d e Epidermolysis bullosa, junctional, Herlitz type. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d e Encyclopedia Dermatology Herlitz Encyclopedia Dermatology
  3. ↑ G. Herlitz: Congenital non-syphilitic pemphigus: an overview and description of a new form of the disease (Epidermolysis bullosa hereditaria letalis). In: Acta Pediat. (Uppsala) 1935, Vol. 17, pp. 315-71.
  4. ↑ H. Müller, H. Bode, C. Krone, I. Anton-Lamprecht, M. Orlowska: Herlitz Syndrome and Pylorus Atresia. In: Helvetica paediatrica acta. Volume 43, Numbers 5-6, June 1989, pp. 457-466, PMID 2745141 .
  5. ^ Junctional epidermolysis bullosa, Herlitz type.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ T. Hirsch, T. Rothoeft, N. Teig, JW Bauer, G. Pellegrini, L. De Rosa, D. Scaglione, J. Reichelt, A. Klausegger, D. Kneisz, O. Romano, A. Secone Seconetti, R. Contin, E. Enzo, I. Jurman, S. Carulli, F. Jacobsen, T. Luecke, M. Lehnhardt, M. Fischer, M. Kueckelhaus, D. Quaglino, M. Morgante, S. Bicciato, S. Bondanza, M. De Luca: Regeneration of the entire human epidermis using transgenic stem cells. In: Nature . Volume 551, number 7680, 11 2017, pp. 327-332, doi : 10.1038 / nature24487 , PMID 29144448 , PMC 6283270 (free full text).
  7. ^ S. Mömke, A. Kerkmann, A. Wöhlke, M. Ostmeier, M. Hewicker-Trautwein, M. Ganter, J. Kijas ,. , O. D: A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. In: PLOS ONE . Volume 6, number 5, May 2011, p. E18943, doi : 10.1371 / journal.pone.0018943 , PMID 21573221 , PMC 3087721 (free full text).

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