OMIM®:
57
Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).
The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by Morava et al., 2009).
Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see 123700. (219100) (Updated 08-Dec-2022)
MalaCards based summary:
Cutis Laxa, Autosomal Recessive, Type Ia, also known as cutis laxa, autosomal recessive, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ia is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include skin, lung and bone, and related phenotypes are recurrent respiratory infections and emphysema
UniProtKB/Swiss-Prot:
73
A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon.
Disease Ontology:
11
An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.