Erythrokeratodermia progressiva symmetrica

Classification according to ICD-10
Q82.8	Hereditary palmoplantar keratosis
ICD-10 online (WHO version 2019)

The Erythrokeratodermia progressiva symmetrica is a rare congenital disease from the group of Erythrokeratodermien . Synonyms are: Darier-Gottron disease , progressive symmetrical erythrokeratodermia type Gottron (PSEK; Latin Erythrokeratodermia congenitalis progressiva symmetrica ).

The name refers to the first author of the first description from 1911 by J. Darier and in 1922 by the Tübingen dermatologist Heinrich Adolf Gottron (1890–1974).

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease is based on mutations in the LOR gene on chromosome region 1q21, which codes for loricrin .

Clinical manifestations

Clinical criteria are:

First manifestation from school age
Significant increase within weeks and months
Localization on the extremities
Severe, symmetrical, even hyperkeratosis with reddened margins on the back of the hand, elbows, feet, knees, sometimes also on the face
The palmar region and chest area are left out
Flat, sharply demarcated keratoses partly with reddening, partly with pigmentation

Differential diagnosis

Must be distinguished, in addition to various non-bullous congenital ichthyosis the Erythrokeratodermia variabilis , the PRP and the Netherton syndrome .

therapy

The treatment is carried out with keratolytic ointments and salt or tar baths.

literature

B. d. Guaraldi, TJ Jaime, R. d. Guaraldi, DF Melo, OM Nogueira, N. Rodrigues: Progressive symmetrical erythrokeratodermia - case report. In: Anais Brasileiros de Dermatologia . Vol. 88, No. 1, 2013, pp. 109-112, PMID 23539014 , PMC 3699941 (free full text).
H. Ott, S. Lehmann, P. Poblete-Gutiérrez, J. Frank: Progressive symmetrical erythrokeratoderma Darier-Gottron. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 55, No. 10, 2004, pp. 994-996, doi: 10.1007 / s00105-004-0790-8 , PMID 15340705 .
S. Emmert, W. Küster, S. Schauder, C. Neumann, TM Rünger: Erythrokeratodermia progressiva symmetrica Darier-Gottron with generalized expression. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 49, No. 8, 1998, pp. 666-671, PMID 9759571 .

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 Erythrokeratodermia progressiva symmetrica. In: Orphanet (Rare Disease Database).
↑ J. Darier: Erythrokeratoderma verruqueuse en nappes, Symetrique et progressive. In: Bulletin de la Société française de dermatologie et de syphiligraphie , Vol. 22, 1911, pp. 252-264.
^ HA Gottron: Congenitally applied symmetrical progressive erythrokeratoderma. In: Zentralblatt für Haut- und Venereal Diseases, Vol. 4, 1922, pp. 493-494.
↑ ^a ^b ^c Altmeyer, Online Encyclopedia Dermatology

[Leiber-1] 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 .

[Orpha-2] Erythrokeratodermia progressiva symmetrica. In: Orphanet (Rare Disease Database).

[3] J. Darier: Erythrokeratoderma verruqueuse en nappes, Symetrique et progressive. In: Bulletin de la Société française de dermatologie et de syphiligraphie , Vol. 22, 1911, pp. 252-264.

[4] HA Gottron: Congenitally applied symmetrical progressive erythrokeratoderma. In: Zentralblatt für Haut- und Venereal Diseases, Vol. 4, 1922, pp. 493-494.

[Altmeyer-5] Altmeyer, Online Encyclopedia Dermatology