Netherton Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q80.8 | Other congenital ichthyosis |
| ICD-10 online (WHO version 2019) | |
The Netherton syndrome , more correctly Comèl-Netherton syndrome , is a rare congenital skin disease ( genodermatosis ) with the main features of erythroderma , hypersensitivity reaction and bamboo hair (Trichorrhexis invaginata).
Synonyms are: bamboo hair syndrome ; Latin Erythroderma ichthyosiforme congenitum; Ichthyosis linearis circumfexa Rille-Comèl .
The name refers to the first author of the first description from 1949 by the Italian dermatologist Marcell Comèl and in 1958 by the US dermatologist Earl Weldon Netherton (* 1893, † 1967).
distribution
The frequency is given as 1 - 9 in 1,000,000, so far fewer than 200 patients have been described. Inheritance is autosomal - recessive .
root cause
The disease are mutations in SPINK5- gene at locus 5q32 basis which for LEKTI, a serine protease - inhibitor coded. It comes u. a. to disturbed T-cell formation and a greatly increased immunoglobulin E level.
Clinical manifestations
Clinical criteria are: onset at or shortly after birth
- Generalized erythroderma of the trunk and extremities with curved borders and scaling accentuated to the edges
- Brittle scalp hair, eyebrows and eyelashes , bamboo hair, trichorrhexis nodosa, pili torti
- Alopecia , rhagades in the corner of the mouth and papillomas on the genitals
- Atopy with asthma , atopic dermatitis , food allergy , urticaria , angioedema
- In the course of the disease, ichthyosis linearis circumflexa develops
- Failure to thrive with stunted growth
- often lichenification in the flexor joints
- facultative disorders in the amino acid metabolism with increased excretion in the urine
As complications hyponatriämische to dehydration , recurrent infections , diarrhea , a malabsorption syndrome and superinfection with septicemia occur.
diagnosis
An immunohistochemical proof of the LEKTI deficiency, better proof of the SPINK5 mutations, can be used to confirm the diagnosis.
Differential diagnosis
The peeling skin syndrome , other child forms of erythroderma such as the non-bullous congenital ichthyosiform erythroderma , erythroderma in psoriasis , atopic dermatitis, lamellar ichthyosis , immunodeficiency syndromes, seborrheic enteropathic dermatitis and acrodermic dermatitis are to be distinguished .
therapy
For symptomatic treatment, the external application of urea , lactic acid , ammonium lactate and tacrolimus is recommended.
course
The lifelong skin and hair changes weaken over time, the failure to thrive decreases.
literature
- M. Kogut, M. Salz, EN Hadaschik, J. Kohlhase, M. Hartmann: A new mutation leads to the entire spectrum of typical features of Netherton syndrome. In: Journal of the German Dermatological Society , Volume 13, No. 7, July 2015, pp. 691-693, doi: 10.1111 / ddg.12453 , PMID 26031502 .
- G. Beljan, H. Traupe, D. Metze, C. Sunderkötter: Comèl-Netherton syndrome with bacterial superinfection. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields , Volume 54, No. 12, December 2003, pp. 1198-1202, doi: 10.1007 / s00105-003-0572-8 , PMID 14634751 .
- H. Boskabadi, G. Maamouri, S. Mafinejad: Netherton syndrome, a case report and review of literature. In: Iranian journal of pediatrics , Volume 23, No. 5, October 2013, pp. 611-612, PMID 24800031 , PMC 4006520 (free full text).
- L. Guerra, P. Fortugno, C. Pedicelli, C. Mazzanti, V. Proto, G. Zambruno, D. Castiglia: Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. In: Acta Dermato-Venereologica , Volume 95, No. 6, June 2015, pp. 720-724, doi: 10.2340 / 00015555-2075 , PMID 25710899 .
Individual evidence
- ↑ 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 .
- ↑ a b c d Encyclopedia Dermatology
- ↑ encyclopaedic dermatology Comèl
- ↑ M. Comel: Ichthyosis linearis circumflexa. In: Dermatologica . Volume 98, No. 3, 1949, pp. 133-136, PMID 18152084 .
- ↑ encyclopedia-dermatology Netherton
- ^ EW Netherton: A unique case of trichorrhexis nodosa; bamboo hairs. In: Archives of Dermatology . Volume 78, No. 4, October 1958, pp. 483-487, PMID 13582191 .
- ↑ a b c Netherton syndrome. In: Orphanet (Rare Disease Database).
- ^ Netherton syndrome. In: Online Mendelian Inheritance in Man . (English)
