#CUTIS LAXA TYPE 3 SKIN#

He was born as the first child of his consanguineous Iranian parents at 36 weeks of gestation via cesarean section. We reported a case on a 9-year-old boy ( Figure 1) referred to our genetic counseling center due to his intellectual disability, developmental delay, and dysmorphic appearance. Using whole exome sequencing, we identified a homozygous mutation, c.722C>A, in PYCR1 gene, and a subsequent diagnosis of ARCL2B was made. Affected individuals may also suffer from skeletal anomalies, hypotonia, and variable central nervous system involvement ( 6, 8, 9). Patients may also have distinctive dysmorphic facial features including triangular face, high forehead, large ears, prognathism, hypotelorisms, bulbous nose, epicanthal folds, and blue sclera. Typical features of ARCL2B are wrinkled loose skin, progeroid appearance, developmental delay, growth retardation, and joint laxity ( 7). Autosomal recessive cutis laxa type 2B (ARCL2B OMIM 612940) is caused by homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate reductase 1 ( PYCR1) gene, which is located on 17q25.3 ( 5, 6). CL is separated into subtypes based on the genetic basis of the disorder. The autosomal recessive form of CL has most commonly been reported ( 3, 4). Inherited CL has considerably heterogeneous etiology and may be presented as autosomal dominant, autosomal recessive and X-linked recessive ( 1, 2). It can be inherited or acquired, but inherited cases are more common.

#CUTIS LAXA TYPE 3 SKIN#

Cranial nerve dysfunction was present in 2 families: in family 2, 3 patients had optic nerve hypoplasia and visual impairment, and 3 had hearing loss, and in another Pakistani family (family 3), both affected sibs had ophthalmoplegia due to a third and fourth cranial nerve palsy.Cutis laxa (CL) is a rare heterogeneous disorder of connective tissue characterized by loose, hypoelastic, wrinkled, sagging and redundant skin resulting in a prematurely aged appearance. Neurodevelopment was normal in most individuals, but 2 sisters from a multiply consanguineous Pakistani pedigree (family 2) had impaired intellectual development, including severe autism and no speech in 1 of them. One patient showed 'beaten-copper' calvarium due to high intracranial pressure on CT imaging. Variable heart defects were present in 3 patients, including a moderate secundum atrial septum defect with mild right ventricular volume overload, mitral and tricuspid insufficiency, and mild concentric left ventricular hypertrophy in 1 patient each. Skeletal anomalies included joint hypermobility, brachydactyly, fifth-finger clinodactyly, variable toe syndactyly, and genua vara. Affected individuals had mild to moderate cutis laxa with deep palmar creases, and inguinal hernia was present in 5 patients. Dysmorphic facial features included facial asymmetry, coarse facies, arched eyebrows, proptosis, downslanting palpebral fissures, long eyelashes, prominent nose with convex nasal ridge, wide nasal bridge, and broad nasal tip, sagging cheeks with prominent nasolabial folds, long philtrum, thick lower lip vermillion, and high-arched palate.

Core clinical features included generalized cutis laxa, craniosynostosis involving variable cranial sutures, short stature, and craniofacial anomalies. (2021) reported 8 children from 4 unrelated consanguineous families with cutis laxa and mutations in the LTBP1 gene.

Optic nerve atrophy (in some patients) Ĭutis laxa, autosomal recessive, type IIEĬutis laxa, autosomal recessive, type IIDĬutis laxa, autosomal recessive, type IIIAĬutis laxa, autosomal recessive, type IIAĬutis laxa, autosomal recessive, type IIIBĬutis laxa, autosomal recessive, type IIBĬutis laxa, autosomal recessive, type IIC

Cutis laxa type 3