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Collodion Baby with TGM1 gene mutation.

Sharma D, Gupta B, Shastri S, Pandita A, Pawar S - Int Med Case Rep J (2015)

Bottom Line: 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.We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation.The infant was lost to follow-up.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.

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.

No MeSH data available.


Related in: MedlinePlus

Parchment-like membrane covering the whole body with predominance over the chest, abdomen, and upper limbs.Note: There is excess of scales around the mouth giving appearance of fish-like mouth.
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f1-imcrj-8-205: Parchment-like membrane covering the whole body with predominance over the chest, abdomen, and upper limbs.Note: There is excess of scales around the mouth giving appearance of fish-like mouth.

Mentions: A term, male neonate was delivered by spontaneous vaginal delivery to a primigravida mother with the parents being non-consanguineous. The infant had a birth weight of 3.5 kg (appropriate for gestational age), with length and head circumference being 52 and 34 cm, respectively. The Apgar score was normal: 8/9/9 at 1, 5, and 10 minutes, respectively. Within hours of birth, the newborn was referred to our emergency department in view of a parchment-like membrane covering the whole body. A detailed physical examination showed broad, thick scales all over the body with predominance over the chest, abdomen, and upper arms. There was associated ectropion and eclabion too. An excess of scales around the mouth gave the typical fish-like mouth appearance. The infant also had generalized erythema and edema over the body (Figure 1). There were no other associated obvious anomalies. Detailed systemic examination was carried out which revealed no abnormalities. Family history was taken and a pedigree analysis was done. There was no history of consanguinity or dermatological-related disorders in the family. There was no history of maternal complications during pregnancy or maternal drug exposure. Dermatological opinion was sought and the infant was managed with adequate humidification in a high-humidity incubator (relative humidity 80%). Close monitoring of body temperature and adequate fluid and electrolyte replacement was done. Oral feeds by tube were started at age of 1 day and gradually increased to full feeds by age of 2 days. Tube feeds were continued for 1 week followed by expressed breast milk by spoon. Nutritionist opinion was also taken for adequate calorie supplementation and fortification of the expressed breast milk was done accordingly. Breast-feeding was tried on several occasions but was difficult due to the collodion membrane around the mouth. Thus, spoon-feeding was continued until the age of 3 weeks, and once the membranes resolved the infant was put on breast-feeding. Topical emollients were regularly applied as advised by the dermatologist. Ophthalmological opinion was taken for eye care and artificial tears were applied to prevent drying of eyes. The infant was closely monitored for signs and symptoms of sepsis in the form of off color, shock, and delayed perfusion. The scales resolved over the next 3 weeks and the infant was discharged in well condition at the age of 4 weeks. A skin-punch biopsy was done at the age of 3 weeks from the abdominal skin. The hematoxylin–eosin stain revealed markedly thickened stratum corneum with cholesterol clefts and a normal granular layer. Geneticist consultation was taken and, in view of financial constraints, gene analysis for only TGM1 gene mutation was sent, it being the commonest cause of CB. Targeted gene sequencing was performed on the infant’s blood and the DNA isolated was used to perform exome capture using custom capture kit. The genetic analysis revealed a homozygous mutation in transglutaminase-1 (TGM1 gene p.Val330MetfsX12 [c.984+1G>A]) located on chromosome 14q12. Genetic analysis of the parents was not performed, again due to financial constraints. Consent was obtained from the parents for case reporting and image publication. However, the infant was later lost to follow-up and, thus, we were unable to do long-term follow-up and it could not be ascertained whether the infant had LI or NBCIE. Both these conditions have the same mutation and only long-term skin manifestations can help to differentiation between the two. Written informed consent was obtained from parents for the publication of images and the case report. All principles outlined in the Declaration of Helsinki were followed.


Collodion Baby with TGM1 gene mutation.

Sharma D, Gupta B, Shastri S, Pandita A, Pawar S - Int Med Case Rep J (2015)

Parchment-like membrane covering the whole body with predominance over the chest, abdomen, and upper limbs.Note: There is excess of scales around the mouth giving appearance of fish-like mouth.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4590349&req=5

f1-imcrj-8-205: Parchment-like membrane covering the whole body with predominance over the chest, abdomen, and upper limbs.Note: There is excess of scales around the mouth giving appearance of fish-like mouth.
Mentions: A term, male neonate was delivered by spontaneous vaginal delivery to a primigravida mother with the parents being non-consanguineous. The infant had a birth weight of 3.5 kg (appropriate for gestational age), with length and head circumference being 52 and 34 cm, respectively. The Apgar score was normal: 8/9/9 at 1, 5, and 10 minutes, respectively. Within hours of birth, the newborn was referred to our emergency department in view of a parchment-like membrane covering the whole body. A detailed physical examination showed broad, thick scales all over the body with predominance over the chest, abdomen, and upper arms. There was associated ectropion and eclabion too. An excess of scales around the mouth gave the typical fish-like mouth appearance. The infant also had generalized erythema and edema over the body (Figure 1). There were no other associated obvious anomalies. Detailed systemic examination was carried out which revealed no abnormalities. Family history was taken and a pedigree analysis was done. There was no history of consanguinity or dermatological-related disorders in the family. There was no history of maternal complications during pregnancy or maternal drug exposure. Dermatological opinion was sought and the infant was managed with adequate humidification in a high-humidity incubator (relative humidity 80%). Close monitoring of body temperature and adequate fluid and electrolyte replacement was done. Oral feeds by tube were started at age of 1 day and gradually increased to full feeds by age of 2 days. Tube feeds were continued for 1 week followed by expressed breast milk by spoon. Nutritionist opinion was also taken for adequate calorie supplementation and fortification of the expressed breast milk was done accordingly. Breast-feeding was tried on several occasions but was difficult due to the collodion membrane around the mouth. Thus, spoon-feeding was continued until the age of 3 weeks, and once the membranes resolved the infant was put on breast-feeding. Topical emollients were regularly applied as advised by the dermatologist. Ophthalmological opinion was taken for eye care and artificial tears were applied to prevent drying of eyes. The infant was closely monitored for signs and symptoms of sepsis in the form of off color, shock, and delayed perfusion. The scales resolved over the next 3 weeks and the infant was discharged in well condition at the age of 4 weeks. A skin-punch biopsy was done at the age of 3 weeks from the abdominal skin. The hematoxylin–eosin stain revealed markedly thickened stratum corneum with cholesterol clefts and a normal granular layer. Geneticist consultation was taken and, in view of financial constraints, gene analysis for only TGM1 gene mutation was sent, it being the commonest cause of CB. Targeted gene sequencing was performed on the infant’s blood and the DNA isolated was used to perform exome capture using custom capture kit. The genetic analysis revealed a homozygous mutation in transglutaminase-1 (TGM1 gene p.Val330MetfsX12 [c.984+1G>A]) located on chromosome 14q12. Genetic analysis of the parents was not performed, again due to financial constraints. Consent was obtained from the parents for case reporting and image publication. However, the infant was later lost to follow-up and, thus, we were unable to do long-term follow-up and it could not be ascertained whether the infant had LI or NBCIE. Both these conditions have the same mutation and only long-term skin manifestations can help to differentiation between the two. Written informed consent was obtained from parents for the publication of images and the case report. All principles outlined in the Declaration of Helsinki were followed.

Bottom Line: 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.We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation.The infant was lost to follow-up.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.

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.

No MeSH data available.


Related in: MedlinePlus