ARCL2 Classic shape

Classification according to ICD-10
Q82.8	Other specified congenital malformations of the skin - cutis laxa (hyperelastica)
ICD-10 online (WHO version 2019)

The ARCL2 classic form is a very rare congenital disease belonging to the cutis laxa syndrome with the main characteristics of sagging skin, joint instability and developmental delay .

Synonyms are: ARCL2 type Debré; ARCL2, classic type; Cutis laxa, autosomal recessive, type 2, Debré

The name refers to a description from 1937 by Robert Debré and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, about 40 patients have been described so far. Inheritance is autosomal - recessive .

root cause

The disease are partly (ARCL2A) mutations in ATP6V0A2 - gene on chromosome 12 locus q24.31 basis, leading to a disorder of glycosylation leads. Mutations in this gene can also be found in wrinkly skin syndrome . Mutations (ARCL2B) in the PYCR1 gene in chromosome 17 locus q25.3 have also been described, which lead to the autosomal recessive inheritance of PYCR1-associated cutis laxa .

Apparently there is no conceptual separation between “classical form” and the genetically based names ARCL2A and ARCL2B

history

H. Fittke: About an unusual form of 'multiple genetic abnormalities' (chaloderma and dysostosis). In: Zeitschrift für Kinderheilkunde Vol. 63, pp. 510-523, 1942.

Individual evidence

↑ ^a ^b Cutis laxa, autosomal recessive, type 2, classic. In: Orphanet (Rare Disease Database).
^ R. Debre, J. Marie, P. Seringe: 'Cutis laxa' avec dystrophies osseuses. In: Bulletins et Mémoires de la Societé Medicales des Hôpiteaux de Paris , vol. 53, p. 1038-1039, 1937.
↑ Cutis laxa, autosomal recessive, type IIA; ARCL2A. In: Online Mendelian Inheritance in Man . (English)
^ Cutis laxa, autosomal recessive, type IIB. In: Online Mendelian Inheritance in Man . (English)
↑ Davor Lessel, Christian Kubisch: Genetically determined syndromes with signs of premature aging. In: Deutsches Ärzteblatt. Volume 116, Issue 29 f., July 22, 2019, pp. 489–496, here: p. 490 f.

[Orpha-1] Cutis laxa, autosomal recessive, type 2, classic. In: Orphanet (Rare Disease Database).

[2] R. Debre, J. Marie, P. Seringe: 'Cutis laxa' avec dystrophies osseuses. In: Bulletins et Mémoires de la Societé Medicales des Hôpiteaux de Paris , vol. 53, p. 1038-1039, 1937.

[3] Cutis laxa, autosomal recessive, type IIA; ARCL2A. In: Online Mendelian Inheritance in Man . (English)

[4] Cutis laxa, autosomal recessive, type IIB. In: Online Mendelian Inheritance in Man . (English)

[5] Davor Lessel, Christian Kubisch: Genetically determined syndromes with signs of premature aging. In: Deutsches Ärzteblatt. Volume 116, Issue 29 f., July 22, 2019, pp. 489–496, here: p. 490 f.