Collodion Baby with TGM1 gene mutation

Abstract

Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). The infant was lost to follow-up.

Collodion Baby

“…Due to the impairment of skin barrier function, these neonates risk many complications, including hypernatremic dehydration, thermal instability like hypothermia, percutaneous toxicity, infection, fissures, conjunctivitis, sepsis, dehydration, and constriction bands of the extremities resulting in vascular compromise and edema. [15][16][17] There is a high risk of dehydration and electrolyte imbalances and high insensible water loss from the skin defect, requiring placement in a highhumidity incubator, close monitoring of body temperature, and good nutritional support in enteral and parenteral forms. [14][15][16] Placing collodion baby in the humidified incubator is essential, with the incubator humidity set at 40-70%.…”

Collodion baby treated at a tertiary hospital in Tanzania: a case report

“…The patient presented here developed a constricted band, which impaired blood flow to her distal extremities, which caused swelling of her limbs, necessitating urgent surgical release. A delay in the release the band could have caused acute compartment syndrome and gangrene to the distal limbs [7, 11, 16], which could result in loss of the limb.…”

Newborn with Harlequin Ichthyosis and the Nursing Care

“…Prenatal diagnosis of genetically inherited fatal diseases is of great importance. 12 Today, genetic mutations leading to this disease can be detected by molecular methods, and it is possible to provide families with pre-conception counseling. 16 The parents of the present case had been informed about the necessity of termination of pregnancy, however, they preferred giving birth.…”

“…10 The major problem encountered in the first days in Baby Y was impaired tissue integrity. Given that such patients generally die in the first days of life due to sepsis, dehydration and impaired thermoregulation, [11][12][13][14] Baby Y was kept in a humidified incubator. Every day, he was bathed with warm water using pH 5.5 shower gel containing linoleic acid.…”