Bozán FI, Díaz MM, Díaz BB, Hernández MJ

Language: Spanish
References: 10
Page:
PDF size: 192.93 Kb.

ABSTRACT

Background: Congenital lamellar ichthyosis is a keratinization disorder of the skin, which takes the appearance of fish scales. It has a low prevalence (1 / 300 000 births), with a variable clinical expression, an unfavorable course and poor prognosis, which varies according to the extent, location and complications that patients can have, and especially the care taken with them. Case report: The case evolution is described and the importance of early diagnosis and timely and adequate treatment is shown. To fulfill its objectives a clinical study was performed based on clinical history with emphasis on dermatological examination, the patient had somatic growth retardation, frequent bacterial respiratory and skin infections, generalized hyperkeratosis, ectropion, complete alopecia of the scalp, eyelashes and eyebrows, nails and skin detachment, behavioral disorders and lack of language. Conclusions: It was found that the disease had evolved, but early diagnosis, monitoring, treatment and special care of his mother allowed to extend and better the life quality of this patient. His family tree showed a possible autosomal recessive inheritance pattern. Genetic counseling and psychological support were given to the family.

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