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One possible cause of Harlequin syndrome is a lesion to the preganglionic or postganglionic cervical sympathetic fibers and parasympathetic neurons of the ciliary ganglion. [7] It is also believed that torsion (twisting) of the thoracic spine can cause blockage of the anterior radicular artery leading to Harlequin syndrome. [8]
Harlequin-type ichthyosis is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in regulating protein synthesis for the development of the skin layer. Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development.
Harlequin color change is a cutaneous condition seen in newborn babies characterized by momentary red color changes of half the child, sharply demarcated at the body's midline. This transient change occurs in approximately 10% of healthy newborns. [ 1 ]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
Peeling skin syndrome (acral peeling skin syndrome, continual peeling skin syndrome, familial continual skin peeling, idiopathic deciduous skin, keratolysis exfoliativa congenita) Pfeiffer syndrome; Photosensitivity–ichthyosis–brittle sulfur-deficient hair–impaired intelligence–decreased fertility–short stature syndrome
It does not cause death but it can become very painful and decrease the quality of life if left untreated. It can affect anyone who does not follow good oral hygiene. It currently affects 20-50% of the global population [8] but only a small portion of cases become severe enough to cause eclabium. Eclabium caused by harlequin ichthyosis is more ...
A teenager is going viral after sharing a video of her self-described “weird, undiagnosed” condition.
Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. [3] Less well documented causes include Sjögren-Larsson syndrome , Netherton syndrome , Gaucher disease type 2, congenital hypothyroidism , Conradi syndrome , Dorfman-Chanarin syndrome , ketoadipiaciduria , koraxitrachitic syndrome , ichthyosis variegata and ...