Acrogeria

Classification according to ICD-10
E34.8	Other specified endocrine disorders - progeria
ICD-10 online (WHO version 2019)

The Acrogeria ( Gottron syndrome ) is a rare congenital disease with atrophy of the skin and subcutaneous fat mainly in the face and on the extremities , hyperpigmentation and thus a prematurely aged appearance ( progeria ).

The name refers to the first author of the first description from 1940 by the German dermatologist Heinrich Gottron .

Synonyms are: familial acrogerie Gottron; Gottron Syndrome I ; English Acrogeria, Gottron's syndrome, Metageria, Acrometageria

distribution

The incidence is unknown, heredity probably occurs autosomal - recessive . The female gender is affected much more often.

root cause

The disease may have mutations in COL3A1 - gene at locus 2q32.2 basis. In some cases a disturbance in the biosynthesis of type III collagen was suspected. Other reports suggest that the LMNA gene is involved.

Clinical manifestations

Clinical criteria are:

Onset of illness in infancy and early childhood
Acromicria , micrognathia
Severe atrophy of the cutis and subcutis with contouring of deeper lying structures, tendency to injuries and telangieectasias
Frequently facial erythema , atrophic, wilted appearing facial skin, scarlet -like rash
Nail dystrophy

A combination with scleroderma is possible.

diagnosis

The x-ray shows a rarefaction of the cancellous bone , and often a lack of closure of the epiphyseal plate .

Differential diagnosis

To be distinguished are: Brugsch syndrome , Hutchinson-Gilford syndrome (Progeria infantilis), Aplasia cutis congenita and Ehlers-Danlos syndrome .

literature

TL Diepgen, M. Simon: Acrogerie Gottron with bone involvement. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Volume 41, No. 10, October 1990, pp. 574-577, PMID 2258301 .

Web links

Acrogeria. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

↑ ^a ^b ^c Encyclopedia Dermatology
↑ ^a ^b acrogeria. In: Orphanet (Rare Disease Database).
^ H. Gottron: Family acrogerie. In: Archives for Dermatology and Syphilis , Volume 181, No. 5, 1940, pp. 571-583.
↑ ^a ^b ^c ^d 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 .
↑ T. Jansen, A. de Paepe, N. Luytinck, G. Plewig: COL3A1 mutation leading to acrogeria (Gottron Type) In: British Journal of Dermatology , Volume 142, No. 1, January 2000, pp. 178-180, PMID 10819545 .
Jump up ↑ S. Hadj-Rabia, J. Mashiah, P. Roll, A. Boyer, P. Bourgeois, P. Khau Van Kien, N. Lévy, A. De Sandre-Giovannoli, C. Bodemer, C. Navarro: A new lamin a mutation associated with acrogeria syndrome. In: Journal of Investigative Dermatology , Volume 134, No. 8, August 2014, pp. 2274-2277, doi: 10.1038 / jid.2014.158 , PMID 24687084 .

[Altmeyer-1] Encyclopedia Dermatology

[Orpha-2] acrogeria. In: Orphanet (Rare Disease Database).

[3] H. Gottron: Family acrogerie. In: Archives for Dermatology and Syphilis , Volume 181, No. 5, 1940, pp. 571-583.

[Leiber-4] 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 .

[5] T. Jansen, A. de Paepe, N. Luytinck, G. Plewig: COL3A1 mutation leading to acrogeria (Gottron Type) In: British Journal of Dermatology , Volume 142, No. 1, January 2000, pp. 178-180, PMID 10819545 .

[6] Jump up ↑ S. Hadj-Rabia, J. Mashiah, P. Roll, A. Boyer, P. Bourgeois, P. Khau Van Kien, N. Lévy, A. De Sandre-Giovannoli, C. Bodemer, C. Navarro: A new lamin a mutation associated with acrogeria syndrome. In: Journal of Investigative Dermatology , Volume 134, No. 8, August 2014, pp. 2274-2277, doi: 10.1038 / jid.2014.158 , PMID 24687084 .