Search

Collodion baby "CB" is an extremely rare dermatological condition. Approximately 1 in 100,000 births are identified as infants with CB syndrome, including stillbirths (Dyer et al., 2013). A cornified substance replaces the newborn's skin, giving the body a varnished or parchment-like appearance. Patient aged 30 years, third gesture, third pare, admitted for premature delivery of 8 months. After labor management, she gave birth 2 h after admission to the maternity ward of a living newborn female weighing 2400 g. The initial physical examination revealed large, thick scales all over the body. Examination of the head and neck revealed an abnormal parchment-like membrane covering the head and sparse hairs. Excessive scaling around the mouth gives a typical fish-like appearance. No other obvious abnormalities were observed. CB is an extremely rare dermatological condition. This is a disorder secondary to cornification. These children are generally born prematurely, and are not diagnosed until after birth. Due to the presence of a tight membrane, these babies develop numerous complications such as eclabium, ectropion, limited movement of the extremities and fingers. Treatment consists mainly of support, such as the use of intravenous fluids, incubators, tube feeding and emollients. The collodion baby is a newborn characterized by an altered skin barrier, exposing him or her to numerous complications. Fortunately, the mortality rate has fallen thanks to improved neonatal care. • Collodion baby is a rare congenital disorder with life-threatening complications. • A cornified substance replaces the newborn's skin, giving the body a varnished or parchment-like appearance • Early diagnosis is important to minimize the physiological and psychological impact of such anomalies on the mother and family. [ABSTRACT FROM AUTHOR]

Background: Collodion membrane in the neonate may be the initial presentation of a number of different conditions. There is a lack of data correlating the extent of clinical involvement to the underlying disease and prognosis. Objective: We sought to identify features predictive of the final outcome and complications in a cohort of patients with collodion membrane, using a disease severity score. Methods: This was a retrospective cohort study of newborns with collodion membrane at a tertiary care institution over a period of 31 years. We designed and applied a 0- to 15-point severity score and correlated the results with the final diagnoses and complications. Data on demographics, membrane shedding, and treatment were collected. Results: We identified 29 cases. Congenital ichthyosiform erythroderma and lamellar ichthyosis were the most common final diagnoses with 7 of 29 cases (24%) each; 3 patients were given the diagnosis of a syndromic ichthyosis. The classic nonsyndromic ichthyoses had higher average score results (7.33) than the syndromic ichthyoses (2.0) and other presentations (4.0), (P = .0097). Patients with major complications had higher, but nonsignificant, average severity scores (P = .64). Limitations: The retrospective design and small number of patients with a syndromic ichthyosis are limitations. Conclusions: Prospective studies are required to validate the proposed disease severity score. [Copyright &y& Elsevier]

Collodion baby is an uncommon clinical presentation of several genetic conditions, primarily disorders of cornification. The severely compromised epidermal barrier presents the greatest challenge during the newborn period and advances in neonatal care have significantly improved the prognosis. This review summarizes the clinical characteristics, complications, outcomes, and differential diagnosis of the collodion baby. A practical approach to management based on the literature and clinical experience is presented. [ABSTRACT FROM AUTHOR]

Spontaneous healing with no or only very mild ichthyosis distinguishes the “self-healing collodion baby” from other congenital ichthyoses. In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. Molecular modeling and biochemical assays of mutant proteins under elevated hydrostatic pressure suggest significantly reduced activity in G278R and a chelation of water molecules in D490G that locks the mutated enzyme in an inactive trans conformation in utero . After birth these water molecules are removed and the enzyme is predicted to isomerize back to a partially active cis form, explaining the dramatic improvement of this skin condition. [ABSTRACT FROM AUTHOR]

Trichothiodystrophy (TTD) is a group of predominantly autosomal recessive disorders characterized by sulfur-deficient brittle hair. Clinical features of TTD consist of variable neuroectodermal symptoms including ichthyosis, nail abnormalities, mental retardation, short stature, decreased fertility and proneness to infections. Approximately half of the reported patients with TTD have clinical and cellular photosensitivity associated with mutations in three subunits (ERCC3, ERCC2, GTF2H5) of the basal transcription factor TFHII, which is involved in transcription and nucleotide excision repair. We report on a case of a male neonate with a novel GTF2H5 gene mutation, detected by whole exome sequencing. The GTF2H5 gene's role is to provide stability to the entire TFHII complex. The reported patient was born at 33 weeks' gestation from a pregnancy complicated by intrauterine growth restriction and premature rupture of membranes. His main clinical problems included severe congenital ichthyosis and proneness to infections with episodes of multiorgan failure. The infant's history displays the most severe clinical manifestations among patients with GTF2H5 gene mutations that have so far been reported. [ABSTRACT FROM AUTHOR]