Pachyonychia congenita
There is no radical therapeutic method for pachyonychia congenita, but some care can ease the symptoms. Patients can polish and trim thickened nails, some of them can use retinoids to relieve symptoms but it may increase pain. Neurofibromatosis type I
Selumetinib and trametinib have been shown to reduce and control tumor growth in people with neurofibromatosis type I, reducing the likelihood of malignant lesions. Therapeutic methods
There are some new and developing genetic therapies available in genodermatosis.In the case of X-linked hypohidrotic ectodermal dysplasia, unborn babies diagnosed with this disease can be treated in their mothers womb. Providing regulatory proteins in the womb during a critical period of infant growth may help correct the development of babies sweat glands.Ustekinumab is a biologic therapy that can be used in a variety of genodermatosis such as congenital ichthyosis, psoriasis, deficiency of interleukin-36 receptor antagonist (DITRA) and so on.A new topical method could treat skin abnormalities in rare inherited lipid metabolic diseases. This method obstructs abnormal mevalonate by topical application of lovastatin so that the production and cumulation of poisonous metabolic intermediates can be inhibited as much as possible and takes the place of the lacking lipid in the skin by topical application of cholesterol.
Pachyonychia congenita
Pachyonychia congenita is a rare type of genodermatosis, its clinical manifestations are abnormal enlargement of fingernails or toenails, excessive or poor palmoplantar keratinization, excessive sweating in the palmar or the plantar. Between 5000 and 10000 people in the world have pachyonychia congenita. Epidermolytic palmoplantar keratoderma
Epidermolytic palmoplantar keratoderma often appears at birth and it is almost impossible to be cured completely. The clinical manifestations of this disease include excessive palmoplantar keratinization, the palmar or plantar become yellow divergently with around the edges or abnormally excessive sweating and clinical manifestation appear in a symmetrical form on the body. Hereditary benign intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis is a rare type of genodermatosis that may occur in infancy and early childhood, its symptoms often appear in the patients eyes and mouths. The patients eyes appear red due to the dilatation of superficial vessels and appearance of conjunctival plaques in their eyes, patients may have variable-size, thick, soft and white plaques in their mouth. Spring is an acute episode of symptoms, such as itching, erythema, photophobia and so on. Epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis is a rare genodermatosis which is also referred to as disorder of cornification type 3 and bullous congenital ichthyosiform erthroderma, affecting almost 1 per 200,000 - 300,000 people. They also stated that its clinical manifestations often begin at birth with large rashes all over the body, and the patients skin will be so sensitive that even mild wounds can cause blisters and peeling. Potential complications of this disease include electrolyte disturbances, sepsis and so on.