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After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve. Improvement in the eclabium and ectropion can also be seen in weeks. Children who survive the neonatal period usually develop a less severe phenotype, resembling a severe congenital ichthyosiform erythroderma .
The cause of the syndrome is unclear. [3] The underlying mechanism is believed to involve excessive excitability of neurons in the right lingual gyrus and left anterior lobe of the cerebellum. Another hypothesis proposes that visual snow syndrome could be a type of thalamocortical dysrhythmia and may involve the thalamic reticular nucleus (TRN ...
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [1] [2] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly. [3]
Fryns-Aftimos syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism, congenital nonmyopathic ptosis, iris or retinal coloboma, deafness, epilepsy, and pachygyria. [5]
Netherton syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor . [2] These mutations result in a dysfunctional protein that has a reduced capacity to inhibit serine proteases expressed in the skin.
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A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms
Snow mold is a type of fungus and a turf disease that damages or kills grass after snow melts, typically in late winter. [1] Its damage is usually concentrated in circles three to twelve inches in diameter, although yards may have many of these circles, sometimes to the point at which it becomes hard to differentiate between different circles.