Hallopeau-Siemens syndrome

Classification according to ICD-10
Q81.2	Epidermolysis bullosa dystrophica
ICD-10 online (WHO version 2019)

The Hallopeau-Siemens syndrome is a rare congenital , clinically severe form of dystrophic epidermolysis bullosa . The main characteristic is blistering , which leads to scarring and mutilation, spontaneously or after minimal trauma .

Synonyms are: Epidermolysis bullosa dystrophica generalisata Hallopeau-Siemens; Epidermolysis bullosa hereditaria polydysplastica; Epidermolysis bullosa hereditaria dystrophica; Epidermolysis bullosa dystrophica recessiva seu polydysplastica

The name refers to the authors of descriptions from 1890 by the French dermatologist François Henri Hallopeau (1842–1919) and in 1921 by Hermann Werner Siemens

The disease should not be confused with Hallopeau's disease , a form of psoriasis .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

Of the disease are mutations in the COL7A1 - gene on chromosome 3 locus p21.31 based coding for collagen encoding type VII (main component of the anchoring fibrils that anchor the basement membrane in the dermis.)

Clinical manifestations

Clinical criteria are:

Blisters arising from the slightest trauma, often at birth
Main localization on hands, elbows, knee joints and feet, but also everywhere, on the mucous membranes
Scarring with adhesions, pseudosyndactyly , joint contractures , pseudomutilation
Nail dystrophy to nail loss
circumscribed hair loss
Tooth anomalies, enamel defects
Corneal opacity , symblepharon , blepharitis , loss of eyelashes, ectropion
Closure of the tear ducts
Microstomy , dysphagia , narrowing of the esophagus
Growth retardation , delayed puberty , osteopenia and osteoporosis

diagnosis

The diagnosis results from the clinical examination and is confirmed by immunofluorescence antigen mapping and / or transmission electron microscopy . Prenatal evidence can be provided by human genetic testing .

Differential diagnosis

The following are to be distinguished:

Other forms of the epidermolysis bullosa group
Herpes simplex infection
congenital erosive and vesicular dermatosis
Epidermolytic Ichthyosis
Bullous pemphigoid
Pemphigus acutus neonatorum
Pemphigoides gestationis

Prospect of healing

The prognosis is reduced due to the frequent development of aggressive squamous cell carcinomas (between the ages of 30 and 50) and possible chronic kidney failure as a complication .

literature

S. Koshida, A. Tsukamura, T. Yanagi, S. Nakahara, Y. Takeuchi, T. Kato, T. Tanaka, H. Nakano, H. Shimizu: Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene. In: Pediatrics international: official journal of the Japan Pediatric Society , Volume 55, No. 2, April 2013, pp. 234-237, doi: 10.1111 / j.1442-200X.2012.03638.x , PMID 23679163 .
H. Iida, T. Hasegawa, K. Okuma, H. Io, Y. Tomino, S. Ikeda: Successfully maintained hemodialysis for the treatment of chronic renal failure in a patient with Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa. In: The Journal of dermatology , Volume 39, No. 12, December 2012, pp. 1088-1089, doi: 10.1111 / j.1346-8138.2012.01617.x , PMID 22725264 .
A. Süss, M. Sticherling, A. Volz, R. Frank, KD Rudolph, JC Simon: Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. In: Journal of the European Academy of Dermatology and Venereology: (JEADV) Volume 21, No. 4, April 2007, pp. 539-541, doi: 10.1111 / j.1468-3083.2006.01938.x , PMID 17373986 .

Individual evidence

↑ ^a ^b ^c ^d ^e Epidermolysis bullosa, dystrophic, autosomal recessive, type Hallopeau-Siemens. In: Orphanet (Rare Disease Database).
↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
^ Who named it Hallopeau
↑ FH Hallopeau: Sur une dermatose bulleuse infantile avec cicatrices indélébiles, kystes epidermiques et manifesstations buccales. In: Annales de dermatologie et de syphilographie, Paris, 1890, Volume 1, p. 414.
^ HW Siemens: Introduction to the general and special hereditary pathology of humans. 2nd Edition. Berlin 1921
↑ Who named it
↑ Epidermolysis bullosa dystrophica, AR. In: Online Mendelian Inheritance in Man . (English)

Web links

[Orpha-1] Epidermolysis bullosa, dystrophic, autosomal recessive, type Hallopeau-Siemens. In: Orphanet (Rare Disease Database).

[Leiber-2] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[3] Who named it Hallopeau

[4] FH Hallopeau: Sur une dermatose bulleuse infantile avec cicatrices indélébiles, kystes epidermiques et manifesstations buccales. In: Annales de dermatologie et de syphilographie, Paris, 1890, Volume 1, p. 414.

[5] HW Siemens: Introduction to the general and special hereditary pathology of humans. 2nd Edition. Berlin 1921

[6] Who named it

[7] Epidermolysis bullosa dystrophica, AR. In: Online Mendelian Inheritance in Man . (English)