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Darier's disease (DD) is a rare, genetic skin disorder. It is an autosomal dominant disorder, that is, if one parent has DD, there is a 50% chance than a child will inherit DD. It was first reported by French dermatologist Ferdinand-Jean Darier in 1889.
Darier's sign is a change observed after stroking lesions on the skin of a person with systemic mastocytosis or urticaria pigmentosa. [1] In general, the skin becomes swollen, itchy and red. This is a result of compression of mast cells, which are hyperactive in these diseases. These mast cells release inflammatory granules which contain ...
Polydactylous longitudinal erythronychia has been most commonly associated with Darier's disease [10] and lichen planus [11] but has also occasionally been associated with acantholytic epidermolysis bullosa, [12] no association, [13] graft-versus-host disease, [14] [15] hemiplegia, [16] and systemic amyloidosis. [11]
Although classically associated with psoriasis, subsequent research has found Auspitz's sign to be of very little diagnostic value for the disease. This is because several other diseases display the sign (including Darier's disease and actinic keratosis). Additionally, only a minority of psoriasis scales show it when removed (<18%). [7]
Signs and symptoms are also applied to physiological states outside the context of disease, as for example when referring to the signs and symptoms of pregnancy, or the symptoms of dehydration. Sometimes a disease may be present without showing any signs or symptoms when it is known as being asymptomatic . [ 13 ]
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 ]
The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; [7] the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1.A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes.
Diagnosis of DPR begins with review of a patient's medical history, laboratory results, and clinical examination of symptoms. Biopsy and histopathological examination can be used to test for the presence of hyperkeratosis, parakeratosis, follicular plugging, and basal cell melanization, all indicators of DPR.