AUTHORS | PATIENTS’ AGE AT SYMPTOM ONSET | CLINICAL PRESENTATION | GENETIC TESTING RESULTS | TREATMENT STRATEGY |
---|---|---|---|---|
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. |