G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis

MacKenzie, AI; Dopping-Hepenstal, P J C; Ozoemena, Linda; Liu, L; Stone, Kristina; Simpson, M.; McGrath, John; Martinez, AE; Mellerio, J.

doi:10.1136/archdischild-2013-304107.041

Cited by 1 publication

(2 citation statements)

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“…Skin fragility decreases with age, but patients develop severe hyperkeratosis with palmoplantar keratodermas over time. This variant has been previously reported with a mild phenotype: skin peeling at birth and mild hyperkeratosis developing later in life [ 7 ]. The mother reports skin findings consistent with mild KRT1/epidermolytic ichthyosis, a VUS by the American College of Medical Genetics (ACMG) classification; however, inheritance from a symptomatic family member and a previously published case report increase suspicion that this is a disease-causing variant [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

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Infant with a hereditary blistering disorder: an interesting case in the NICU

Tchignaha,

Restivo,

Szialta

et al. 2024

Oxford Medical Case Reports

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This is a case of hereditary skin disorder in a full-term female newborn, with family history of epidermolysis bullosa (EB), who developed skin vesicles on the first day of life (DOL) without mucosal or ocular involvement. A multidisciplinary approach involving dermatology, wound care, and occupational therapy led to full recovery in our patient within six days of life. Special precautions were taken to prevent complications. Upon genetic testing, the patient was found to have a genetic variant of unknown significance (VUS). The goal of this case report is to give a detailed account of the patient’s course, provide management recommendations which could be applied to similar cases and settings in the newborn period.

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Section: Discussionmentioning

confidence: 99%

“…The patient’s GeneDx Epidermolysis Bullosa Panel, which tests for 27 EB-associated genes revealed heterozygous VUS: KRT1 c.1012T>C p.(S338P) and PLEC c. 1012 T > C p.(S338P). The patient’s mother was later identified to have the KRT1 gene variant, associated with epidermolysis ichthyosis [ 7 ].…”

Section: Case Reportmentioning

confidence: 99%