Cutis Laxa: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for Cutis Laxa

Ehlers-Danlos Syndrome

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

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]

Chernogubow: Über einen Fall von Cutis laxa. (Presentation at the first meeting of Moscow Dermatologic and Venerologic Society, Nov 13, 1891.) [whonamedit.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]

Other anomalies are skin hyperextensibility and cutis laxa, joint laxity or contractures of the joints, and inguinal herniae. [ncbi.nlm.nih.gov]

Cutis Laxa

In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes. [ncbi.nlm.nih.gov]

To date no effective treatment is available for cutis laxa. [ncbi.nlm.nih.gov]

In GeneReviews Medscape entry on Cutis Laxa [en.wikipedia.org]

Granulomatous Slack Skin

A 39-year-old man had a two-year history of three indurated plaques that progressively underwent a cutis laxa-like transformation. [ncbi.nlm.nih.gov]

Granulomatous slack skin is a rare variant of indolent cutaneous lymphoma, characterized by a cutis laxa-like clinical appearance and widespread granulomatous infiltration [ncbi.nlm.nih.gov]

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

Mounier-Kühn Syndrome

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]

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]

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]

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]

Ehlers-Danlos Syndrome Type 4

Cutis laxa. [forgottendiseases.org]

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

Autosomal Recessive Cutis Laxa Type 1A

Autosomal recessive cutis laxa type IA (ARCL1A), lab preferred: Cutis laxa, autosomal recessive 1A (ARCL1A) Molecular Genetics D Deletion/duplication analysis Comparative [ncbi.nlm.nih.gov]

[…] recessive cutis laxa II (ARCL2); Autosomal recessive cutis laxa III (ARCL3); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome [kegg:H00557] [bio2rdf.org]

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

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: loss of elastic tissue in the papillary and reticular dermis; fibers are shortened, tapered and degenerate ( Arch Dermatol 1965;92:373 ) Late-onset focal dermal elastosis [pathologyoutlines.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]

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]

Sweet Syndrome

A 2-year-old black girl was diagnosed with Sweet syndrome and cutis laxa, and she was given corticosteroid therapy. [ncbi.nlm.nih.gov]

Extracutaneous involvement was unusual, whereas postinflammatory scarring and cutis laxa occurred in a minority of patients. [ncbi.nlm.nih.gov]

laxa undergo complete cardiac evaluation, including 2-dimensional Doppler echocardiography, by a pediatric cardiologist. [ncbi.nlm.nih.gov]

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]

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]

Autosomal Dominant Spastic Paraplegia Type 9A

[…] info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3 SOURCES: OMIM UMLS DOID MONDO CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Alternate names CUTIS LAXA, AUTOSOMAL [mendelian.co]

laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia [centogene.com]

LAXA Alternate names AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl Description Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by [mendelian.co]

Hirschsprung Disease Type D-Brachydactyly Syndrome

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, and scoliosis RIN2 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome POLD1 Mandibuloacral dysplasia LMNA Mandibulofacial dysostosis with [centogene.com]

Laxa Cystathioninuria Cystic Fibrosis Cystic Fibrosis, Non-classic Cystinuria Cystinuria, Non-type I Cytochrome c Oxidase Deficiency Cytochrome P450 Deficiency Danon Disease [sequencing.com]

Acrootoocular Syndrome

laxa, Debré type [↗] Autosomal recessive cutis laxa, pulmonary emphysema type [↗] Autosomal recessive cutis laxa type 1 [↗] Autosomal recessive cutis laxa type 2 [↗] Autosomal [wikicure.wikia.com]

Cryptophthalmos Cutis Laxa Cytochrome-c Oxidase Deficiency Dandy Walker syndrome DeBarsy syndrome DeBuquois syndrome Dejerine-Sottas syndrome DeLange syndrome DeSanctis-Cacchione [de.slideshare.net]

laxa Contracture with ectodermal dysplasia and orofacial cleft syndrome Crane Heise syndrome Craniofacial dyssynostosis syndrome Craniofacial microsomia Craniofrontonasal [icdlist.com]

Autosomal Recessive Spastic Paraplegia Type 63

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD® exclusive variant numbers (++) ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia [centogene.com]

Cowden Syndrom PTEN, CPT II Deficienz CPT2 Craniosynostose FGFR1, FGFR2, FGFR3, TWIST1 Crigler-Najjar Syndrom UGT1A1 Crouzon Syndrom FGFR2,, POR Currarino Syndrom HLXB9 Cutis [meduniwien.ac.at]

LAXA RNG130 CHERATODERMIE PALMOPLANTARI EREDITARIE RN0520 XERODERMA PIGMENTOSO RN0530 CHERATOSI FOLLICOLARE ACUMINATA RN0540 CUTE MARMORATA TELEANGECTASICA CONGENITA RN0550 [retemalattierare.it]

Lenz-Majewski Syndrome

We report on a sclerosing bone dysplasia, associated with cutis laxa, enamel dysplasia, and mental retardation. [ncbi.nlm.nih.gov]

From Wikidata Jump to navigation Jump to search Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis [wikidata.org]

Abstract We report on a sclerosing bone dysplasia, associated with cutis laxa, enamel dysplasia, and mental retardation. [nature.com]

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]

Supravalvular Aortic Stenosis

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]

Uncovering the nature of connections between elastin and TGFβ may help developing treatments for cutis laxa. [d-scholarship.pitt.edu]

SVAS and Cutis Laxa Syndromes SVAS has also occasionally been found in patients affected by Autosomal Dominant Cutis Laxa (ADCL; OMIM 123700), Autosomal Recessive Cutis Laxa [circgenetics.ahajournals.org]

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]

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]

Neurocutaneous Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS, vol.119A, pp.375-380, 2003 Tüysüz B., Arapoglu M., Ilikkan B., Demirkesen C., Perk Y., "Congetial cutis laxa syndrome: type II autosomal [aves.istanbul.edu.tr]

Girisha, KM (2013) Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Molecular Genetics and Metabolism, xxx. pp. 1-10. [eprints.manipal.edu]

laxa with progeroid features PYCR1+del Cutis laxa, autosomal dominant, 1 (ADCL1) ELN+del Cutis laxa, autosomal recessive (ARCL) ATP6V0A2+del, PYCR1+del Cutis laxa, X-linked [uniklinik-freiburg.de]

Costello Syndrome

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]

The differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes is discussed [ncbi.nlm.nih.gov]

The cutis laxa is caused by impaired assembly of elastin fibres, owing to a functional deficiency of the 67 kDa elastin binding protein. [jmg.bmj.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]

Patterson Pseudoleprechaunism Syndrome

laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. [orpha.net]

The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental [doi.org]

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