Cutis-laxa: Causes & Reasons

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Possible Causes for cutis laxa

Pulmonary Emphysema

Cutis laxa is a disorder of skin due to a defective elastin synthesis. [ncbi.nlm.nih.gov]

Evidence is given to suggest that cutis laxa, presenting several described structural patterns, should be considered as a syndrome. [ncbi.nlm.nih.gov]

We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid [ncbi.nlm.nih.gov]

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

laxa (disorder) loose skin Cutis laxa generalized elastorrhexis pachydermatocele Elastolysis Generalized elastolysis generalized elastolysis edit English cutis laxa skin [wikidata.org]

Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical [ncbi.nlm.nih.gov]

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

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]

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]

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]

Rocha MPD, Neugebauer S, Wolter M, Rocha NM (2007) Acquired cephalic cutis laxa. Dermatology Online J 13(3) Google Scholar 35. [link.springer.com]

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 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]

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

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]

We report on a 4‐year‐old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid [ingentaconnect.com]

The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable [ncbi.nlm.nih.gov]

Ehlers-Danlos Syndrome Type 4

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Cutis laxa. [forgottendiseases.org]

Dermatosparaxis

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. [edstoday.org]

Supravalvular Aortic Stenosis

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

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]

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]

Waters-West Syndrome

Deafness, And Oligodontia Coffin-Siris Syndrome 5 Cohen Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi Craniofrontonasal Dysplasia Cutis [familydiagnosis.com]

laxa, autosomal recessive, type IIA, 219200 PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 ALDH18A1 Cutis laxa, autosomal recessive, type IIIA, 219150 PYCR1 Cutis [gsdseq.ir]

Laxa, Autosomal Recessive, Type IIIA Cutis Laxa, Corneal Clouding, And Mental Retardation De Barsy Syndrome A Progeroid Syndrome Of De Barsy ARCL3A 219150 Genetic Test Registry [ukgtn.nhs.uk]

Ehlers-Danlos-Syndrome Type 10

laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Type 1 Excludes Ehlers-Danlos syndrome ( Q79.6 [icd10data.com]

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

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]

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]

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]

We provide an overview of metabolic cutis laxa syndromes, several of which are due to Golgi defects, novel case reports on COG defects, and a review on the genetic and clinical [link.springer.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]