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A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A

Jing Liu orcid id orcid.org/0000-0002-1311-6235 ; Huaibei People’s Hospital (The Huaibei Clinical College of Xuzhou Medical University), Huaibei City, China
Lin Wang orcid id orcid.org/0000-0002-1311-6235 ; Huaibei People’s Hospital (The Huaibei Clinical College of Xuzhou Medical University), Huaibei City, China


Puni tekst: engleski pdf 397 Kb

preuzimanja: 224

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Sažetak

A male infant was born by spontaneous delivery
on February 7, 2020, with a gestational age of 40
weeks and a birth weight of 4.1 kg. After birth, the
infant presented with appearance of skin loss on
the bilateral lower limbs, feet, left wrist, face, and
lips. Large areas of skin defects, erosion, and exudation
were noted on the extensor side of the bilateral
lower limbs and feet, and some skin loss with a small
amount of exudation was observed on the left wrist,
face, and lips, which was accompanied by dorsal hyperextension
of the right foot and oral mucosal ulceration
(Figure 1).

Ključne riječi

164

Hrčak ID:

274603

URI

https://hrcak.srce.hr/274603

Datum izdavanja:

15.9.2021.

Posjeta: 494 *