Neonatal Endocrinologic Problems in Collodion Babies

Özdemır, Ahmet; Korkut, Sabriye; Kurtoğlu, Selim; Hatipoğlu, Nihal; Güneş, Tamer; Öztürk, Mehmet

doi:10.1111/pde.13120

Cited by 2 publications

(3 citation statements)

References 19 publications

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“…Congenital hypothyroidism is known to be a common complication in patients with HI. In a previous study on 42 collodion babies, the prevalence of congenital hypothyroidism was higher in the patient group than in the control group previously matched in terms of gestational age and birth weight (23% vs. 4%, P=0.01) [19]. The reason for the prevalence of elevated congenital hypothyroidism in HI has not been elucidated yet.…”

Section: Discussionmentioning

confidence: 81%

“…The reason for the prevalence of elevated congenital hypothyroidism in HI has not been elucidated yet. However, monitoring thyroid function is needed for the early detection and proper management of thyroid dysfunction in HI [19]. In this case, thyroid stimulating hormone (TSH) was determined to be high (19.03 μIU/mL) at 3 weeks after birth, with normal thyroxine levels.…”

Section: Discussionmentioning

confidence: 90%

“…The rate of premature birth was reported to be as high as 29%, and the rate of "small for gestational age" was also high (at 40%). This suggests that fetal growth within the uterus is limited [19]. Furthermore, 2 of 10 patients with HI had malabsorption or nutritional problems in a previous study [20].…”

Section: Discussionmentioning

confidence: 94%

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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim

Shin

et al. 2019

J Genet Med

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Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 90%

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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim

Shin

et al. 2019

J Genet Med

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Congenital Fibroepithelial Polyp Presenting as a Cutaneous Horn on the Nasal Tip: A Case Report

권¹,

전²,

이³

et al. 2020

Korean J Head Neck Oncol

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Cutaneous horn is the clinical entity, which is circumscribed, conical, markedly hyperkeratotic lesion in which the height of the keratotic mass amounts to at least half of its largest diameter. It may be associated with many different pathological lesions. It is a relatively rare and a kind of epidermal tumor that generally appears as a conical projection. Here, we report rare case of congenital cutaneous horn. A 39-month-old female Korean patient presented at our clinic with a mass at the tip of her nose present since birth. Under general anesthesia, cutaneous horn of nasal tip was completely excised without any complications. The operation site was small enough to perform a primary closure, without any nasal deformity. Histopathologically, it was reported as a fibroepithelial polyps. After operation, there is no evidence of recurrence at 16 months of follow-up.

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Neonatal Endocrinologic Problems in Collodion Babies

Abstract: Premature birth and SGA are common in CBs. GH levels are high and IGF-1 and IGFBP-3 levels low at birth as a sign of GH resistance in these patients. The greater prevalence of hypothyroidism in these children is also significant.

Cited by 2 publications

References 19 publications

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Congenital Fibroepithelial Polyp Presenting as a Cutaneous Horn on the Nasal Tip: A Case Report

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