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]

Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns. [symptoma.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

Cutis laxa. [radiopaedia.org]

What is cutis laxa? [dermnetnz.org]

Pathology Cutis laxa may be inherited (autosomal dominant, autosomal recessive, or X-linked recessive) or may occur sporadically. [radiopaedia.org]

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]

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]

Mounier-Kühn Syndrome

Although the association of this condition with Ehlers-Danlos syndrome More Details reported in adults and with acquired cutis laxa in children may suggest a congenital defect [lungindia.com]

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

Secondary tracheobronchomegaly may also occur as a result of Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa in children, Kenney-Caffe syndrome, connective diseases, severe [eurorad.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]

The disease is sometimes associated with connective tissue diseases such as Ehlers-Danlos syndrome, Marfan syndrome, and cutis laxa (see these terms) and might have a genetic [orpha.net]

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]

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, x-linked Disorder of copper metabolism Distal arthrogryposis syndrome Ehlers-Danlos and osteogenesis imperfecta syndrome Ehlers-Danlos syndrome Ehlers-Danlos [icdlist.com]

Autosomal Recessive Cutis Laxa Type 1A

Symptoms include cutis laxa (loose... more... [malacards.org]

Causes [ edit ] In most cases, cutis laxa is inherited. [en.wikipedia.org]

Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. [ncbi.nlm.nih.gov]

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]

International journal of cardiology. (2005) [ Pubmed ] Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis. [wikigenes.org]

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]

There are three distinct clinical phenotypes, the severe classical MD, mild MD and occipital horn syndrome (OHS, also known as X-linked cutis laxa or Ehlers-Danlos type IX [link.springer.com]

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]

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]

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]

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]

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]

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]

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]

Costello Syndrome

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]

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]

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

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

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

GARD: 19 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and [malacards.org]

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]

Dermatosparaxis

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

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]

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

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]

Chudley-Rozdilsky Syndrome

2B Cutis laxa X-linked - See Occipital horn syndrome Cutis laxa, autosomal dominant Cutis laxa, autosomal recessive - See Cutis laxa, autosomal recessive type 1 Cutis laxa [elbiruniblogspotcom.blogspot.com]

Gyrata syndrome of Beare and Stevenson Cutis gyratum acanthosis nigricans craniosynostosis Cutis laxa Cutis laxa osteoporosis Cutis laxa autosomal dominant Cutis laxa autosomal [personalizedcause.com]

laxa with bone dystrophy - See Cutis laxa, autosomal recessive type 2A Cutis laxa with growth and developmental delay - See Cutis laxa, autosomal recessive type 2A Cutis [elbiruniblogspotcom.blogspot.com]

Congenital Disorder of Glycosylation Type 1I

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

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]

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

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]