Table 2 The several literatures of instances with various subtypes of epidermolysis bullosa

Randhir Sagar Yadav¹

2018

Diagnosed at 26y (SONS)

A variety of vesicles and bullae with hemorrhagic crusts and erosions

Dominant Dystrophic EB COL7A1

Symptomatic treatment with mupirocin ointment and paraffin gauze.

Andrea Diociaiuti ²

2016

2 days old.

The presence of hemorrhagic blisters.

COL7A1

NM

Jing Liu³

2021

At birth.

Absence of skin on the lips, face, and both lower limbs.

COL7A1

Antibiotics administered, aseptic dressing changes.

Kotaro Komatsu⁴

2020

At birth throughout infancy.

Generalized recurrent. Severe pruritis with blisters. And mild hypoplasia of the toenail. Currently Presented with atrophic scarring.

DDEB,

p. G2043R is the heterozygous single nucleotide alteration c.6127G > A in exon 73 of COL7A1, arginine residue.

NM

Christine Cramer ⁵

2018

At birth.

Blistering and skin erosions

ACC with Recessive dystrophic EB

Antibiotic treatment, analgesics, non-adherent silver nitrate dressings, and cotton gloves to prevent adhesions.

Valeria Venti ⁶

2020

During childhood (SONS).

Skin erosions and scarring since childhood with blisters evolving into painful ulcers.

COL7A1 gene revealed a homozygous single-base missense variant c.6797G > T.

Intravenous fluid, antibiotic therapy, oral iron supplementation, topical agents, and non-adhesive dressings.

Jia Zhang ⁷.

2016

Since birth.

Generalized blisters, worsened by friction absent nails, and hyperkeratosis.

KRT5- EBS-gen-sev

Minimizing trauma, good nutrition, and infection control

Sunitha Tella ⁸.

2022

Presented at 2y (SONS)

Blisters, scars, hypopigmented areas, and dystrophic nails.

Autosomal Recessive- EBS with nail and muscular dystrophy. PLEC gene (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and (chr8:145001693_145001694delCT; c.4054_4055del; p.Ser1352CysfsTer68)

NM

Mohammed Al Towijry ⁹

2023

3 months old.

Recurrent vesicles and bullae on non-pressure sites of hands and feet. Teeth abnormality and caries.

Homozygous for Dystonin (EBS gene mutation) c.3370 C > T, p. (Gln1124)

Supportive, TA, nutritional support, and preventive measures of blister formation.

Jana Kyrova¹⁰

2016

8 years old.

Skin and oral mucosa erosions, hemorrhagic blisters, onychodystrophy, and later severe scoliosis.

EBS- with Muscular Dystrophy. PLEC gene mutation.

NM

Aleksandra Bergant Suhodolčan ¹¹

2014

Soon after birth.

Blisters, crusts, erosions around the navel, and blisters on fingers and toes.

EBS with mottled pigmentation KRT5:c.74 C > T variant (missense KRT5:p.Pro25Leu mutation)

TA, prevention of secondary infection and trauma.