Congenital Ichthiosis, Symptoms And Possible Treatments.

Congenital ichthiosis, symptoms and possible treatments.

Introduction:

Trying to define congenital ichthiosis (IC) is trying to define a really broad and complex topic, because it not only represents a broad group of diseases, but also results in the various hereditary genetic mutations or disorders, which will lead to develop phenotypic problems Dermatologically, "defines a group of generalized cornification disorders, which are characterized by hyperkeratosis and/or peeling".

There are about 36 types of IC, the most serious type is Arlequín Syndrome (SA), first described by scientist Lance et al, which referred the name of this condition to the remembered harlequin costume. Next, we will focus on explaining in detail the symptoms and treatments caused by this syndrome.

Developing:

Symptoms will be specified for each type of patient. In the first instance we find newborns, they are born with a skin covered with supergruesas scales, which will extend to their entire body level which will cause the skin to become a thick shell; In the birth the deformities of the newborn become evident, presenting also polydactyly, spontaneous amputations of the members, Eclabium, ectropion, hypotropy, plaques with hyperkeratosis; The functional limitations of the newborn will be presented, preventing or making it difficult to. 

In the second instance we find the children of 1-14 years of age, they present in the skin high gravity infections that eventually generate the formation of relatively infected shells; At the ocular level the presence of infections will become evident, which could cause the loss of one of organs; The functional limitations will be caused by the deformations of joints and bones due to the low activity of the immune system, which will cause it to lose the movement of the joints.

 Finally, in adults, the dermatological presence will become evident by the reddish appearance, abnormal peeling and thickening in all the skin and the presence of keratoderma; Functional and / or motor limitations will originate due to the alteration of nerve systems that can generate the loss of functional mobility in the joints and could cause mental retardation; The visual loss will begin with burning and infections in the eye organs that will worsen over time, if not treated.

In order to counteract this syndrome, a specific treatment will be used taking into account each type of patient. In the first place, in newborns the use of retinoids will be fundamental because this drug has high levels of vitamin A what they help the damaged dermal cells because of this syndrome can be recovered, after the application the most recommended thing is to bring the patient to corrective surgery, then the newborn must undergo endotracheal incubation to treat it. 

Second, children must enter dermatological surgery to treat damaged skin, after surgery it is recommended to use antiseptics and dermatological creams to avoid the future formation of more shells in the skin and avoid dryness; Ocular ointments will also be necessary to avoid the greatest loss of vision or reduce it. Finally, in adults it will be necessary to apply solar protector or filter to treat skin sensitivity, decrease reddish color and avoid the formation of shell; In addition, antiseptics should be used to treat dermatological infections; and the application of topical and optical solutions to treat the eye zone and avoid losing sight by 100%.

Conclusion:

Congenital ichthiosis encompasses thousands of hereditary and rare diseases that mainly affects the skin of the one that possesses these conditions, the most serious of all these diseases, which shows more sudden symptoms and treatments, is harlequin syndrome, this disease is easy to identify due that the symptoms are phenotypically evidence lead a life as normal as possible.

Bibliographic references:

• Pérez, A and Pino, G. (2010). Serious newborn ichthiosis: an uncommon pathology. Medigraphic.
• Sinclair, j. (s.F.). Harlequin syndrome: symptoms, causes and treatments. Seville: Lifer.
• Vega, N and Aranibar, L. (2015). Hereditary ichthiosis: diagnostic and therapeutic challenge. Chile: Chilean Pediatrics Magazine.
• Escorial, M and Fawwaz, G. (2015). Harlequin syndrome in childhood. Spain: FAPAP.
• Carvalajino, F and Peña, L. (2018). Harlequin ichthiosis, a devastating genodermatosis. Colombia: Medicine and Surgery Repertoire (FUCS).