MUTATIONS RESPONSIBLE FOR CLINICAL PHENOTYPES OF COLLODION BABIES: AN OVERVIEW
Mohammad Farhan Qureshi, Mohammed Khalaf AlMutairi, Viquar Fatima Qureshi and Shoeb Qureshi*
ABSTRACT
Collodion baby is a descriptive term for infants who are born in a tight shiny membrane (like a plastic wrap) caused by developmental dysfunction in the epidermis. In almost all such cases, different forms of ichthyosiform diseases and the changing phenotypes of icthyosis (bullous and non-bullous ichthyosis, lamellar and arthrogryposis, self-healing and improving ichthyosis, bathing suit ichthyosis, loricrin keratoderma, trichothiodystrophy, harlequin ichthyosis, icthyosis vulgaris, ichthyosiform erythroderma) are implicated under the influence of different genes (TGM1, ABCA 12, KRT10, CYP4F22, ARCI, loricrin gene) and their mutations (984+1G>A, c.1857delA, c.5653-5655deITAT, 467G.A, ALOXE3, ALOX12, ALOX12B, c.1922_1926+2 delGGCCTGT, p.Val359Met, G278R, D490G, G278R, c.420A>G, c.832G>A, c.141G>T, P.W47C, p.Arg396His, P.N171Tfs(*)45). To accomplish the target, peer-reviewed English language articles published up to 2016 were selected from Pub Med, Pub Med Central, Science Direct, Up-to-date, Med Line, comprehensive databases, Cochrane library, Google and yahoo. Literature reports confirm that when membrane cracks the CBs are exposed to a higher risk of complications including loss of fluid, dehydration, instability in body temperature, electrolyte imbalance, morbidity and mortality. Thus they are placed within a chamber of high humidity for gradual sloughing off of the membrane. Besides, regular and symptomatic treatment, identification of genes and their mutations is crucial for gene therapy.
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