Cutis Laxa: Causes & Reasons

Possible Causes for Cutis Laxa

KEYWORDS: ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A) [ncbi.nlm.nih.gov]

Laxa Orphanet: 209 Medscape entry on Cutis Laxa [en.wikipedia.org]

Pseudoxanthoma elasticum with generalized cutaneous laxity. Arch Dermatol. May 1997;133(5):664-6. [Medline]. 38.Uitto J, Ryhänen L, Abraham PA, Perejda AJ. [hoanmysaigon.com]

Turner Syndrome

laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy See Clinical [emedicine.medscape.com]

[…] aorta, bicuspid aortic valve, and aortic dissection in adulthood Thyroid: Hypothyroidism develops in 10-30% of patients [6] and is often associated with thyroid enlargement Cutis [emedicine.medscape.com]

Arterial Tortuosity Syndrome

We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. [ncbi.nlm.nih.gov]

A hyperextensible skin or mild cutis laxa can exist. Fingers are long and thin. [doi.org]

Article CAS Google Scholar Sawyer SL, Dicke F, Kirton A et al: Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. [nature.com]

Cutis Laxa

Typical findings for Cutis Laxa: 1. [cancertherapyadvisor.com]

Cutis laxa Other names Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis Cutis laxa in a neonate Specialty Medical [en.wikipedia.org]

“EFEMP2-Related Cutis Laxa”. [cancertherapyadvisor.com]

Granulomatous Slack Skin

laxa Elastic tissue topic Atrophy Cutis laxa Elastic tissue description Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded [oasisbr.ibict.br]

Marked cutis laxa skin laxity in the axillary region and cervical adenopathy. Cutis laxa skin laxity in the occipital region. [ncbi.nlm.nih.gov]

laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. [oasisbr.ibict.br]

Mounier-Kühn Syndrome

Secondary tracheobronchomegaly was also described in association with Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa in children, Kenney-Caffe syndrome, and connective [eurorad.org]

If the latter definition is used, associations include connective tissue disorders such as 2,6: Ehlers-Danlos syndrome cutis laxa The underlying abnormality is an absence [radiopaedia.org]

Tracheobronchomegaly

Krajnc I, Rems D, Vizjak A, Hödl S (1996) Acquired generalized cutis laxa with paraproteinemia (IgG lambda). [link.springer.com]

If the latter definition is used, associations include connective tissue disorders such as 2,6: Ehlers-Danlos syndrome cutis laxa The underlying abnormality is an absence [radiopaedia.org]

If the latter definition is used, associations include connective tissue disorders such as 2,6 : Ehlers-Danlos syndrome cutis laxa The underlying abnormality is an absence [radiopaedia.org]

Autosomal Recessive Cutis Laxa Type 1A

laxa The first metabolic disorder associated with cutis laxa was Menkes disease. [ncbi.nlm.nih.gov]

laxa Download Figure: 5 Cutis laxa Download Figure: 6 Inherited cutis laxa Management There is no specific treatment for cutis laxa or for preventing progression Treatment [pcds.org.uk]

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int. J. Mol. Sci. 2017, 18, 635. [mdpi.com]

Ehlers-Danlos Syndrome Type 4

laxa AR 14 16 ELN Cutis laxa, Supravalvular aortic stenosis AD 78 113 FBLN5 Cutis laxa, Macular degeneration, age-related AD/AR 13 22 FBN1 MASS syndrome, Marfan syndrome, [blueprintgenetics.com]

Cutis laxa. [forgottendiseases.org]

Cutis laxa, neigung zu haemorrhagien in der haut, lockerung mehrerer artikulationen. Dermatol Ztschr. 1901;8:173-174. Danlos M. [vasculardiseasemanagement.com]

Menkes Disease

laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 Del Dup NGS Cutis laxa, autosomal dominant 1 ELN Del Dup NGS Cutis laxa, autosomal [ctgt.net]

The relationship between Menkes' syndrome and the other copper-related syndromes (X-linked cutis laxa, occipital horn syndrome, and Ehlers-Danlos syndrome type 1X) is also [journals.lww.com]

It is also called as the X-linked cutis laxa syndrome. Patients of this syndrome show some residual ATP7A activity. [steadyhealth.com]

Muscular Dystrophy-Dystroglycanopathy Type C7

laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive distal osteolysis [se-atlas.de]

Mental retardation, autosomal recessive 55 617051 616283 Autosomal recessive PYCR1 17q25.3 Cutis laxa, autosomal recessive, type IIIB 614438 179035 PYCR1 17q25.3 Cutis laxa [mnglabs.com]

[…] ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cutis [se-atlas.de]

Muscular Dystrophy-Dystroglycanopathy Type C4

laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 Del Dup NGS Cutis laxa, autosomal dominant 1 ELN Del Dup NGS Cutis laxa, autosomal [ctgt.net]

laxa, autosomal recessive, 1B (ARCL1B) [MIM: 614437 ] EFNB1 P98172 non-pleiotropic Craniofrontonasal syndrome (CFNS) [MIM: 304110 ] EFTUD2 Q15029 non-pleiotropic Mandibulofacial [sbg.bio.ic.ac.uk]

laxa, autosomal dominant Cutis laxa, x-linked Cystic fibrosis Cystinosis Cystinosis, ocular nonnephropathic Czech dysplasia metatarsal type Danon disease Deafness, autosomal [pentacorelab.hu]

Pseudoxanthoma Elasticum

A patient is presented with severe cutis laxa of the abdomen. [ncbi.nlm.nih.gov]

Data on six patients with a Pseudoxanthoma Elasticum (PXE)-like phenotype, characterized by excessive skin folding (resembling cutis laxa) and a deficiency of the vitamin [ncbi.nlm.nih.gov]

laxa, and anetoderma. [journals.lww.com]

Adult Krabbe Disease

laxa, dwarfism, skeletal dysplasia, Ehlers Danlos syndrome, hyperextensible joints, Beals syndrome, congenital contractural arachnodactyly, other) Cooley anemia (thalassemia [kumc.edu]

[…] xeroderma pigmentosum) Coffin-Lowry syndrome Coffin-Siris syndrome Congenital heart defects Connective tissue conditions (Marfan syndrome, pseudoxanthoma elasticum (PXE),cutis [kumc.edu]

laxa) Endocrine Conditions (adrenal, androgen, diabetes, thyroid, ovaries, other) Epidermolysis bullosa Facial anomalies, disfigurement (craniofacial, cleft) Factor V Leiden [kumc.edu]

Lenz-Majewski Syndrome

EFEMP2-RELATED CUTIS LAXA This disorder is also known as FBLN4-related cutis laxa or autosomal recessive cutis laxa type 1B (ARCL1B). [rarediseases.org]

In addition, it was uniquely associated with cutis laxa, enamel dysplasia, and mental retardation. [nature.com]

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. [pubmed.ncbi.nlm.nih.gov]

Costello Syndrome

laxa that is extra skin loosening of the neck, palms and soles of the feet and developmental delays. [radiopaedia.org]

Costello syndrome is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and mental retardation. [ncbi.nlm.nih.gov]

In some patients a mild cutis laxa was found. Furthermore frontotemporal alopecia, trichomegaly,curly hair and nail dystrophies. [altmeyers.org]

Zosteriform Lentiginosis

[…] of connective tissue Cutis laxa with osteodystrophy Cutis laxa, autosomal dominant Cutis laxa, autosomal recessive Cutis laxa, recessive, type I Cutis laxa, recessive, type [icdlist.com]

Abnormal palmar creases Accessory skin tags Benign familial pemphigus [Hailey-Hailey] Congenital poikiloderma Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited [icd.codes]

laxa senilis Long Description: Cutis laxa senilis This is the 2019 version of the ICD-10-CM diagnosis code L57.4 Valid for Submission The code L57.4 is valid for submission [sej-ramme.pw]

Dyschondrosteosis-Nephritis Syndrome

laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 Del Dup NGS Cutis laxa, autosomal dominant 1 ELN Del Dup NGS Cutis laxa, autosomal [ctgt.net]

2 1 Cutis Laxa, Autosomal Recessive, Type IA 2 Cutis Laxa, Autosomal Recessive, Type IB 2 Cutis Laxa, Autosomal Recessive, Type IIB 1 Cutis Laxa, Autosomal Recessive, Type [preventiongenetics.com]

Laxa, Autosomal Recessive, Type IIA ARCL2A 219200 Genetic Test Registry Cutis Laxa, Autosomal Recessive, Type IIB Cutis Laxa With Progeroid Features ARCL2B 612940 Genetic [ukgtn.nhs.uk]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Tests Available Supravalvular Aortic Stenosis / Autosomal Dominat Cutis Laxa (ELN) Cutis Laxa Panel Forms and Documents Test Details Clinical Utility: Confirmation of a clinical [genedx.com]

Cutis laxa autosomal recessive Type II Cutis laxa autosomal recessive Type II (ARCLII) often includes a characteristic facies with down-slanting palpebral fissures, a short [nature.com]

LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and [mendelian.co]

Patterson Pseudoleprechaunism Syndrome

Symptoms Are there any other disease that can resemble or look like cutis laxa? [thinkgenetic.com]

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. [pubmed.ncbi.nlm.nih.gov]

Dermatosparaxis

The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. [ehlers-danlos.com]

Redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa. [chronic-illnesses-awareness.weebly.com]

Ehlers-Danlos Syndrom Classic Type 2

laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 Del Dup NGS Cutis laxa, autosomal dominant 1 ELN Del Dup NGS Cutis laxa, autosomal [ctgt.net]

laxa Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A [se-atlas.de]

Ehlers-Danlos-Syndrome Type 10

Van meereken De dilatabilitate extraordinaria cutis Observationes. Amsterdam medico-Chirurgicae, (1682), pp. 32 [4.] A. Tschernogowbow Cutis laxa mhft Prackt. [archbronconeumol.org]

Cutis laxa syndromes Hyperextensible skin should also be distinguished from that observed in the cutis laxa syndromes and in De Barsy syndrome, in which the redundant skin [nature.com]

Ehlers-Danlos Syndrome Hypermobility Type

Cutis laxa. [forgottendiseases.org]

Van meereken De dilatabilitate extraordinaria cutis Observationes. Amsterdam medico-Chirurgicae, (1682), pp. 32 [4.] A. Tschernogowbow Cutis laxa mhft Prackt. [archbronconeumol.org]

Congenital Disorder of Glycosylation Type 1I

Autosomal recessive cutis laxa Type II: Report of novel mutation in a child. [idoj.in]

Figure 3: Patients A, B and C share the same features: down-slanting palpebral fissures, cutis laxa, progeroid aspect, and scoliosis. [omicsonline.org]

Here, we present unique congenital disorders of glycosylation type 2-associated anomalies, including both ATPase-related and unrelated cutis laxa and sensorineural hearing [ncbi.nlm.nih.gov]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

FBLN5 Cutis laxa type 2A, autosomal recessive ATP6V0A2 Cutis laxa type 2B, autosomal recessive PYCR1 Cutis laxa type 3A, autosomal recessive ALDH18A1 Cutis laxa type 3B, [centogene.com]

laxa type 1A autosomal recessive (FBLN5) Cost: 30000.00 Test Offer Cutis laxa type 1B autosomal recessive (EFEMP2) Cost: 30000.00 Test Offer Cutis laxa type 1C autosomal [dnalabsindia.com]

laxa type IIIB Autosomal recessive cutis laxa type IIB RAB27A gene Melanosis with immunologic abnormalities with or without neurologic impairment Griscelli syndrome type [julesberman.blogspot.com]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

[…] disease, Neuropathy EIF2AK3 SED, Wolcott-Rallison type EIF2B5 Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy ELN Cutis laxa, Supravalvular aortic stenosis [genda.com.ar]

laxa, Wrinkly skin syndrome ATR Cutaneous telangiectasia and cancer syndrome, Seckel syndrome B3GALNT2 Muscular dystrophy-dystroglycanopathy B3GALT6 Ehlers-Danlos syndrome [genda.com.ar]

Coxoauricular Syndrome

[…] gyrata-acanthosis nigricans-craniosynostosis syndrome 6 Cases 209 Cutis laxa 0.1 BP * 221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 21 Cases [azkurs.org]

Laxa, Autosomal Dominant 1; ADCL1 OMIM:614434 Cutis Laxa, Autosomal Dominant 2; ADCL2 OMIM:616603 Cutis Laxa, Autosomal Dominant 3; ADCL3 OMIM:219100 Cutis Laxa, Autosomal [informatics.jax.org]

Thoracomelic Dysplasia

Laxa, Autosomal Recessive Type 1 Donnai-Barrow Syndrome Eisenmenger Syndrome Elastin Mutations Ellis-Van Creveld Syndrome Emanuel Syndrome Familial Cryoglobulinemia Familial [docmh.com]

Autosomal Recessive Primary Microcephaly Type 10

Mental retardation, autosomal recessive 55 617051 616283 Autosomal recessive PYCR1 17q25.3 Cutis laxa, autosomal recessive, type IIIB 614438 179035 PYCR1 17q25.3 Cutis laxa [mnglabs.com]

laxa AD,123700 LTBP4 Cutis laxa autosomal recessive type IC,613177 ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 PYCR1 Cutis laxa, autosomal recessive, type [gsdseq.ir]