Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling

Mir-Bonafé, Juan Francisco; Baselga-Torres, E.; Roé-Crespo, Esther; Puig-Sanz, L.

doi:10.1016/j.adengl.2015.09.013

Cited by 1 publication

(2 citation statements)

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“…To our knowledge, the homozygous variant has not been previously reported in BSI, although it is unambiguously pathogenic. In addition, a literature review of 54 BSI cases revealed multiple TGM1 variants that have been reported in both BSI and other subtypes of ARCI . These findings suggest that clear genotype‐phenotype correlations are difficult to establish due to the influence of genetic modifiers or epigenetics that alter gene expression.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, a literature review of 54 BSI cases revealed multiple TGM1 variants that have been reported in both BSI and other subtypes of ARCI. [4][5][6][7][8][9][10][11][12] These findings suggest that clear genotype-phenotype correlations are difficult to establish due to the influence of genetic modifiers or epigenetics that alter gene expression.…”

Section: Discussionmentioning

confidence: 99%

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Bathing suit ichthyosis: Two Burmese siblings and a review of the literature

Oberlin

Wilson

et al. 2019

Pediatric Dermatology

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Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders caused by a defect in skin barrier function. ARCI encompasses a spectrum of non-syndromic phenotypes.Subtypes of ARCI include harlequin ichthyosis (HI), lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), bathing suit ichthyosis (BSI), self-healing collodion baby (SHCB), and acral self-healing collodion baby (ASHCB). According to the Online Mendelian Inheritance in Man (OMIM) database, at least 15 different causative genes have been implicated in the pathogenesis of ARCI thus far, with transglutaminase 1 (TGM1) located on 14q11.2 being the most common. 1 BSI is classically characterized by scaling mainly limited to the trunk with sparing of the central face and extremities. It is caused by temperature sensitive variants in TGM1, an enzyme that crosslinks the cornified envelope of mature keratinocytes. 2 Defects in the scaffold of the cornified envelope impair the formation of normal lamellar bilayers, resulting in increased transepidermal water loss. 1 Previous studies have offered compelling evidence for temperature-induced dysfunction of TGM1. For example, in situ TGM1 testing in patients with BSI revealed a marked decrease in enzyme activity when the temperature was increased from 25°C to 37°C. 3 Furthermore, the use of digital thermography has demonstrated a significant correlation between warmer body areas and presence of scaling in patients with BSI. 3We describe a rare case of intrafamilial variation in phenotypic expressivity in two Burmese siblings with BSI. These siblings demonstrate that high phenotypic variability in BSI can occur within the same family and even in the same individual. We also present a concise review of the genotypic spectrum of BSI from 54 cases reported in the literature as evidence that both environmental and additional genetic factors can significantly alter the BSI phenotype. | C A S E PRE S ENTATI ONPatient A and Patient B are Burmese siblings born from non-consanguineous parents with no family history of ARCI. Patient A is a LI et aL. 10-month-old boy who presented at birth with a collodion membrane and bilateral eyelid ectropion. Following desquamation of the collodion membrane, the patient developed generalized scaling that was evident at 1 month. Genetics evaluation revealed a homozygous variant c.652 G > A, (Gly218Ser) in exon 4 of TGM1 consistent with LI. At 7 months, he began to exhibit clearing of his bilateral cheeks and forearms. By 9 months, his skin displayed sharply demarcated plaques composed of large, dark brown platelike scales on the vertex of the scalp, forehead, ears, neck, abdomen, and back, while there was strikingly normal skin on the central face, buttocks, and extremities (Figure 1). Patient B is the 9-year-old old sibling of Patient A. She was born in Thailand, without available birth records. Per her mother's history, Patient B presented similarly to her sibling at birth, developed similar generalized scaling during infancy, and required eyelid sur...

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Section: Discussionmentioning

confidence: 99%