Raynaud's Disease
Abstract A case of flap necrosis after rhytidectomy in two patients with Raynaud's symptomatology are presented. The pathology and complications are explained and reasons postulated for the necrosis and wound-healing problems. Clinical descriptions of the fingertips and skin may help give a cautious warning for[…][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]
Cutis Laxa
In GeneReviews Medscape entry on Cutis Laxa[en.wikipedia.org]
To date no effective treatment is available for cutis laxa.[ncbi.nlm.nih.gov]
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]
Cutis Laxa, Autosomal Recessive
Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families.[ncbi.nlm.nih.gov]
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]
As well, the PYCR1 gene also was shown to be mutated in a similar disease, designated cutis laxa, autosomal recessive, type IIB (ARCL2B) or cutis laxa with progeroid features[ncbi.nlm.nih.gov]
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 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]
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]
Rectal Prolapse
Tuberculosis of the gastrointestinal tract (GIT) occurs as a primary lesion or secondary to a focus of tuberculosis elsewhere in the body, most commonly in the lungs. Tuberculosis can affect any part of the GIT from the oesophagus to the anal canal. Two main types are - the tuberculous ulcer and the rarer[…][ncbi.nlm.nih.gov]
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]
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]
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]