Clinical manifestations, genetic characteristics and laboratory markers of patients with epidermolysis bullosa: a single tertiary referral center experience

Abstract

Background

Epidermolysis bullosa (EB) is a group of genetically and clinically heterogeneous diseases that presents as blisters, erosions, crusts, and scars.

Materials and Method

In this retrospective study, we report the clinical manifestations, genetic characteristics, and laboratory markers of patients with EB.

Results

Fifteen patients with EB were included in the study. The most common type was dystrophic EB (DEB) (n = 10), followed by EB simplex (EBS) (n = 3), junctional EB (JEB) (n = 1), and Kindler EB (n = 1). The disease onset was from birth in 13 patients. The most common cutaneous manifestations were erosions (n = 12), vesicles and bullae (n = 8), scars (n = 6), and milia (n = 6). Nail abnormalities were observed in 11 patients and mucosal involvement in seven patients. The most common genetic mutation was COL7A1 gene mutation (n = 10), followed by PLEC (n = 2), ITGB4 (n = 1), KRT5 (n = 1), and FERMT1 (n = 1). Laboratory examination revealed iron deficiency in 10 patients. One patient had moderate vitamin D deficiency, and five had mild vitamin D deficiency.

Conclusion

EB is a genetic disease that may associated with many systemic comorbidities. Multidisciplinary management of wound care is essential for the early management of severe EB to avoid wound progression into scars and deformities. The levels of vitamins such as ferritin and zinc, and the levels of hemoglobin and albumin, should be optimal levels to optimize wound healing.

Introduction

Epidermolysis bullosa (EB) is a group of genetically and clinically heterogeneous diseases associated with mucocutaneous fragility caused by minimal mechanical trauma [1]. 16 gene mutations have been reported that affect intracellular, transmembrane, or extracellular proteins, leading to blister formation [2,3]. The main proteins affected by EB are structural components of the cytoskeleton, such as keratin 5 and 14; cell matrix proteins, including integrin α6β4, type XVII collagen, laminin 332, type VII collagen, integrin α3 subunit, and kindlin-1 [2–5].

EB may present as blisters, erosions, crusts, and scars [1] as well as milia, nail dystrophy, and anonychia [6]. Mucosal involvement of the oropharynx, esophagus, and eyes may occur, and hair and tooth deformities may occur [6,7]. In patients with EB, chronic erosive lesions may lead to complications including secondary bacterial infections, anemia, nutritional disorders, limited physical activity, depression, and squamous cell carcinoma [6,8].

The diagnosis of EB is based on immunohistochemical methods and detection of the mutated gene [1]. EB is classified into four major types based on its clinical features and cleavage level in the skin layer: EB simplex (EBS; intraepidermal layer), junctional EB (JEB; within the lamina lucida of the basement membrane), dystrophic EB (DEB; below the basement membrane), and Kindler EB (KEB; mixed pattern). EBS is the most common type of EB, accounting for approximately 70% of EB cases [2,5]. EBS can be associated with mutations in KRT5, KRT14, PLEC, and other genes. JEB can be caused by mutations in LAMA3, LAMB3, COL17A1, ITGA6, ITGB4 and ITGA3. DEB is associated with COL7A1 mutations and KEB is caused by mutations in FERMT1 [2].

Patients with EB have at risk of nutritional disorders that lead to anemia, vitamin deficiency, growth retardation, and osteoporosis [7,9–11]. It is important to make a timely diagnosis of nutrient deficiencies and provide the necessary and sufficient supplementation to prevent metabolic complications in patients with EB [7,9,10]. In this study, we aimed to investigate the clinical manifestations, genetic characteristics, and nutritional laboratory markers of fifteen patients with EB from a tertiary hospital in Turkey.

Materials and method

This study was performed in the Department of Dermatology and Venereology of Manisa Celal Bayar University. The study protocol was approved by the Medical Sciences Ethics Committee of Manisa Celal Bayar University (approval date 12.03.2025 and number 20.478.486/2959).

In this retrospective study, patients diagnosed clinically and genetically with EB at Manisa Celal Bayar University, Department of Dermatology and Venereology, from January 1, 2023, to October 20, 2024, were included. The patients’ age, sex, clinical manifestations, genetic characteristics, and laboratory examination results, including levels of hemoglobin, ferritin, iron, zinc, B12, albumin, vitamin D, thyroid-stimulating hormone (TSH), and T4, were recorded.

This study was conducted in accordance with the principles of the Declaration of Helsinki, and written informed consent to participate and publish was obtained from the involved patients or, if appropriate, from their parents. Patients with missing data and those who did not provide consent to participate in the study were excluded.

Descriptive data were expressed as mean ± SD, numbers and percentages. Chi-squared test was used to compare categorical variables. A p value of <.05 was considered statistically significant.

Genetic analysis

DNA isolated from peripheral blood specimens were used for all genetic tests mentioned below.

Targeted sequencing was performed according to the manufacturer’s guidelines using a QIAseq Targeted Custom Panel Kit for library preparation. Sequencing was conducted using the Illumina MiSeq platform. The covered regions were sequenced at a mean depth of 250x. A depth ≥5x was achieved for 99.5% of the target regions. Analysis of the generated sequences was performed using the CLC Genomics Workbench (QIAGEN). The variants were annotated according to the human reference genome (GRCh37/hg19). Significant variants were visualized using the Integrative Genomics Viewer (IGV) and classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines (2015) [12].

Microarray analysis was performed using Infinium global screening array-24 v3.0. The platform contains 650,000 probes. A minimum of 10 consecutive probes was used to identify significant CNVs. Anomalies present in less than 30% of the cells were not detectable.

Results

Of the 15 EB patients included in the study, 8 were male (53.3%) and 7 were female (46.7%). No significant dominance was found between genders in terms of probability. (chi-square test, χ² = 0.067, df = 1, p = 0.80). The mean age was 16.4 (SE: ±3.39 years, SD: ±13.15 years, range: 2–39 years). Nine patients were under 18 years of age, and six patients were adults.

Clinical manifestations

The most common type of EB was DEB (n = 10, 66.6%), followed by EBS (n = 3, 20%), JEB (n = 1, 6.7%), and KEB (n = 1, 6.7%). Figure 1 shows the subtypes of patients with EB.

Figure 1.

Subtypes of 15 epidermolysis bullosa patients.

Consanguinity was observed in 11 (73.3%) patients. Ten patients (66.6%) had a positive family history.

The disease onset was from birth in 13 patients (86.7%). The most common cutaneous manifestations were erosions (12 patients, 80%), vesicles and bullae (8 patients, 53.3%), scars (6 patients, 40%), and milia (6 patients, 40%) (Figure 2a–2e). Nail abnormalities were observed in 11 patients (73.3%) (Figures 2f and 3a). Mucosal involvement was seen in 7 patients (46.7%) (6 oral mucosal lesion, 3 esophageal stenosis, 1 phimosis). Dental anomalies were found in five patients (33.3%) (Figure 3b and 3c). Extremity deformities were observed in six patients (40%) (pseudosyndactyly in four patients affected both hands and feet, and two patients affected only feet) (Figure 3d and 3e). Hair abnormalities were observed in 6 patients (40%) (5 with alopecia and 4 with dermatitis) (Figure 3f). Cardiological disease was detected in one patient (3rd grade mitral and tricuspid regurgitation, rhabdomyoma in the left ventricular wall). Gastrointestinal (Gis) complications were observed in 10 patients (66.7%) (8 constipation, 1 pyloric atresia, 3 esophageal stenosis, 4 dysphagia, and 5 gastroesophageal reflux). Three patients had ophthalmologic problems (20%) and six patients had mild cognitive impairment (40%). One patient developed cutaneous squamous cell carcinoma of the lower extremity associated with EB (Case 4). Epidermolysis bullosa nevus was found in 1 patient, and 1 patient had glucose-6-phosphate dehydrogenase deficiency (G6PDD).

Figure 2.

(a) Chronic wounds and multiple milia in dystrophic epidermolysis bullosa. (b) Localized bulla in the lower extremity. (c) Ear localized bullae in an epidermolysis bullosa simplex (Patient 11). (d) Healing wound on elbow in epidermolysis bullosa simplex patient (Patient 8). (e) Hemorragic bullae in dystrophic epidermolysis bullosa patient (Patient 4). (f) Nail dystrophy (Patient 8).

Figure 3.

(a) Nail dystrophy (Patient 15). (b) Teeth anomaly in dystrophic epidermolysis bullosa (Patient 12). (c) Teeth anomaly in dystrophic epidermolysis bullosa (Patient 3). (d) ‘Mitten’ deformity (Patient 12). (e) Pseudosyndactilia in dystrophic epidermolysis bullosa (Patient 4). (f) Diffuse alopecia (Patient 3).

Genetic characteristics

The most common genetic mutation was COL7A1 (10 patients, 66.6%), followed by PLEC (2 patients, 13.3%) 1 patient had ITGB4 (6.7%), 1 patient had KRT5 (6.7%), and 1 patient had FERMT1 mutation (6.7%). The patients’ genetic characteristics are summarized in Table 2, and mutated genes are shown in Figure 4.

Table 2.

Genetic characteristics of patients diagnosed with EB.

Patient	Subtype	Gene and Transcript	Zygosity	Variant	Variant consequence	Classification (ACMG criteria)
1	DEB	COL7A1 NM_000094.4	homozygous	c.7474C > T p.Arg2492Ter	nonsense	Pathogenic
2	EBS	PLEC NM_000445.5	homozygous	c.3109_3114dup CCGCTG p.Pro1037_Leu1038dup	in frame deletion	Variant of unknown significance
3	DEB	COL7A1 NM_000094.4	homozygous	Deletion exon 14–23	deletion	Likely pathogenic
4	DEB	COL7A1 NM_000094.4	homozygous	c.7474C > T p.Arg2492Ter	nonsense	Pathogenic
5	DEB	COL7A1 NM_000094.4	homozygous	Deletion exon 14–23	deletion	Likely pathogenic
6	DEB	COL7A1 NM_000094.4	compound heterozygous	c.425A > G p.Lys142Arg	missense	Pathogenic
				c.6994C > T p.Arg2332Ter	nonsense	Pathogenic
7	EBS	KRT5, NM_000424.4	heterozygous	c.428T > A p.Val143Asp	missense	Pathogenic
8	DEB	COL7A1 NM_000094.4	heterozygous	Deletion exon 74–88	gross deletion	Likely pathogenic
9	DEB	COL7A1 NM_000094.4	heterozygous	c.6209G > A p.Gly2070Glu	missense	Pathogenic
10	DEB	COL7A1 NM_000094.4	heterozygous	c.6209G > A p.Gly2070Glu	missense	Pathogenic
11	JEB	ITGB4 NM_000213.5	homozygous	c.1642G > A p.Gly548Arg	missense	Variant of unknown significance
12	KEB	FERMT1 NM_017671.5	homozygous	c.1710C > G p.Tyr570Ter	nonsense	Likely pathogenic
13	DEB	COL7A1 NM_000094.4	homozygous	Deletion exon 14–23	gross deletion	Likely pathogenic
14	EBS	PLEC NM_201384.3	heterozygous	c.8237G > A p.R2746Q (rs781927726)	missense	Variant of unknown significance
15	DEB	COL7A1 NM_000094.4	homozygous	c.7340C > G p.Ser2447Ter	nonsense	Pathogenic

DEB: dystrophic epidermolysis bullosa (EB), EBS: EB simplex, JEB: junctional EB, KEB: Kindler EB.

Figure 4.

Genetic characteristics of 15 patients with epidermolysis bullosa.

The clinical manifestations of EB patients are shown in Figure 5, and summarized in Table 1. Figure 6 shows systemic involvement and Figure 7 shows the gis involvement of patients. Laboratory findings of patients were shown in Figure 8.

Figure 5.

Clinical manifestations of 15 epidermolysis bullosa patients.

Table 1.

Clinical manifestations of patients diagnosed with EB.

Patient	Age (years)	Sex	Onset age	EB type	Distrubition of lesions	Nail inv.	Tooth inv.	Mucosal inv.	Hair inv.	Extremity deformity	Ophthalmologic inv.	Psychiatric (Cognitive impairment) inv.	Gastrointestinal inv.
1	34	F	At birth	DEB	Bilateral upper and lower extremities, hands and feet, body	Yes	Yes	Yes	Yes	Yes. Hands and feet	Corneal 2/3 epithelial defect, limbal ischemia	No	Constipation, esophageal stenosis, gastroesophageal reflux, dysphagia
2	10	M	At birth	EBS	Neck, body, feet	Yes	Yes	Yes	Yes	Yes. Hands and feet	No	Mild cognitive impairment	Constipation, pyloric anomaly, gastroesophageal reflux
3	8	F	At birth	DEB	Neck, hands and feet, elbows, body	Yes	Yes	No	Yes	No	No	Mild cognitive impairment	Constipation
4	28	M	At birth	DEB	Hands and feet, neck and body	Yes	Yes	Yes	Yes	Yes. Hands and feet	Corneal central epithelial defect	No	Constipation, esophageal stenosis, gastroesophageal reflux, dysphagia
5	2	M	At birth	DEB	Face, hands and body	Yes	No	Yes	No	No	No	No	Constipation
6	9	M	At birth	DEB	Bilateral upper and lower extremities, hands and feet, body, neck	Yes	No	Yes	No	Yes. Hands and feet	No	Mild cognitive impairment	Constipation, esophageal stenosis, steatocrit, gastroesophageal reflux, dysphagia
7	39	F	At birth	EBS	Hands and feet, genital	No	No	No	No	No	No	Mild cognitive impairment	Dysphagia
8	13	M	At birth	DEB	Feet, knees and elbows	Yes	No	No	No	No	No	No	No
9	2	M	At birth	DEB	Bilateral lower extremities and axillary	No	No	No	No	No	No	No	No
10	32	F	At birth	DEB	No clinical lesion	No	No	No	No	No	No	No	No
11	6	F	9 months	JEB	Both waist, left shoulder, right leg extremities	Yes	No	No	No	No	No	No	Constipation
12	32	M	At birth	KEB	Hands	Yes	Yes	Yes	No	No	No	Mild cognitive impairment	Gastroesophageal reflux
13	5	M	At birth	DEB	Bilateral upper and lower extremities, hands and feet, body	Yes	No	Yes	Yes	Yes. Feet	Corneal epithelial defect	Mild cognitive impairment	Constipation
14	21	F	18 years	EBS	Bilateral upper and lower extremities, body	No	No	No	No	No	No	No	No
15	5	F	At birth	DEB	Hands and feet, knees and elbows and body	Yes	No	No	Yes	Yes. Feet	No	No	No

F: female, M: male, inv: involvement, DEB: dystrophic epidermolysis bullosa (EB), EBS: EB simplex, JEB: junctional EB, KEB: Kindler EB.

Figure 6.

Systemic involvement of 15 epidermolysis bullosa patients.

Figure 7.

Gastrointestinal involvement of 15 epidermolysis bullosa patients.

Figure 8.

Laboratory findings of 15 epidermolysis bullosa patients.

Laboratory findings

On laboratory examination, low levels of hemoglobin were detected in nine patients (64.3%), iron levels were low in ten patients (76.9%), and ferritin levels were low in two patients (14.9%). Vitamin B12 levels were low in 1 patient (7.1%). Vitamin D levels were normal in 6 patients (46.1%). One patient had moderate vitamin D deficiency (7.7%), and six patients had mild vitamin D deficiency (46.1%). Zinc deficiency was observed in one patient (11.1%). All pediatric patients had a history of receiving appropriate daily doses of zinc, vitamin D, and iron supplements. Albumin levels were low in 3 patients (21.4%). The TSH and T4 levels were normal in all patients. The laboratory examination results of the patients are shown in Table 3.

Table 3.

Laboratory parameters of patients diagnosed with EB.

Patient number	Hemoglobin levels	Iron levels	Ferritin levels	Vitamin B12 levels	T4 levels	TSH levels	Albumin levels	Vitamin D levels	Zinc levels
1	10.3	33,5	14	451	0.65	1.61	3 9	21	103
2	11.2	60.3	12	96	0.8	2.0	3 8	15	N/A
3	10.8	18	15.9	235	1.37	1.35	4 1	12	152
4	10.2	23.4	12.4	325	0.92	0.7	3 6	20	136
5	9.0	12.5	22.2	323	N/A	N/A	3 1	N/A	N/A
6	7.3	10.5	4	608	0.86	1.96	2 4	18	N/A
7	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
8	11.3	27.7	20.4	255	1.02	3.64	4 3	14	149
9	12.0	46.4	10.4	189	0.97	1.7	4 5	22	83
10	12.8	79.1	17.1	160	0.84	1.06	4 6	21	92
11	12.4	82.6	18.5	253	0.93	1.58	5 0	19	70
12	14.8	N/A	42	341	0.84	1.02	4 5	N/A	N/A
13	8.7	22	64.1	257	0.91	4	2 6	28	56
14	12.3	115	10.1	168	0.78	1.4	4 5	6	75
15	10.6	36	16	519	0.93	1.43	4 6	26	N/A

Abbreviations: N/A: not available, TSH: thyroid stimulating hormone.

Normal ranges were defined as follows: Hemoglobin (normal: ≥11.5 g/dL at 2–12 years, ≥12 g/dL in females and ≥13 g/dL in males older than 12 years); vitamin B12 (normal: 126–505 pg/mL); albumin (normal: ≥2.8 g/dL at 2–13 years, ≥3.8 g/dL at 14–17 years, ≥3.2 g/dL at 18–59 years); serum iron (normal: 65–176 µg/dL in men, 50–170 µg/dL in women, 50–120 µg/dL in children); ferritin (normal: 7–140 µg/mL from 1 year to adolescence, 20–250 µg/mL in men ≥18 years, 10–120 µg/mL in women 18–39 years); serum zinc (normal: 60–120 µg/dL at 7 months–3 years, 65–130 µg/dL at 4–10 years, 70–135 µg/dL at 11–15 years, 70–140 µg/dL at ≥16 years); TSH (normal: 0.55–5.31 mU/L at 20 weeks–18 years, 0.5–4.1 mU/L at >18 years); FT4 (normal: 0.8–2.8 ng/dL at ≤5 years, 0.8–2.1 ng/dL at 6–15 years, 0.8–2.8 ng/dL in male adolescents 16–17 years, 0.8–1.5 ng/dL in female adolescents 16–17 years, 0.9–1.7 ng/dL in adults >18 years); and vitamin D (normal: >20 ng/mL, with insufficiency defined as 10–20 ng/mL, deficiency as 5–10 ng/mL, and severe deficiency as <5 ng/mL). (13).

Discussion

EBS is the most common subtype of EB and has a milder course than other types. Although EBS is the most common form, in previous studies [14,15] similar to ours, DEB was found to be the most common subtype and COL7A1 mutation was detected in 10 patients (66.6%), and it was the most common genetic mutation. In a recently published study, Thien et al. also showed a predominance of DEB associated with mutations in the COL7A1 gene in 76% of patients (n = 67) [14], as in our study. This can be explained by the fact that these centers are tertiary care units, like our hospital, and more severe cases are admitted.

Some of the variants identified in our patients are notable because they are reported for the first time. The following variants are novel in our study: PLEC NM_000445.5 c.3109_3114dupCCGCTG and c.8237G > A; COL7A1 NM_000094.4 exon 14–23 deletion, exon 74–88 deletion, and c.7340C > G; and FERMT1 NM_017671.5 c.1710C > G. In addition, the ITGB4 NM_000213.5 c.1642G > A mutation has previously been reported in patients without detailed phenotypic information and was classified as a variant of uncertain significance [16]. In our study, this variant is reported for the first time in association with a localized JEB phenotype. Gross exon deletions in COL7A1 are considered exceptionally rare in the literature. However, their prominent occurrence in our patient cohort suggests a potential founder effect, indicating that these deletions may have arisen from a shared ancestral allele within this population.

EB can be associated with various systemic complications. Factors that disrupt nutritional balance in patients with EB include malnutrition due to gis and/or oral mucosa involvement, protein loss due to chronic wounds, and inability to functionally use the extremities. Esophageal stenosis has been reported in 79.1% of patients with severe RDEB, 14.3% with JEB, and lower rates with other EB subtypes [13]. In contrast, pyloric atresia, a gis manifestation of EB, is associated with a mutation in the Plectin (PLEC) gene and generally occurs in patients with severe EBS [12]. In our study, esophageal stenosis was observed in 3 patients. PLEC mutations were observed in two patients with EBS. One patient (patient 2) had constipation, pyloric atresia, and gastroesophageal reflux, whereas the other patient (patient 14) had no known gis involvement. All of these gis complications can lead to the patient’s nutrition being limited to liquid foods only, and nutrition is impaired [9]. Moreover, due to the closure of digits inward, a hand deformity named pseudosyndactyly occurs in patients with EB and may cause eating problems due to the physical limitation of extremity use [7]. In our study, pseudosyndactyly of the hands was detected in 4 patients. Consequently, the cause of malnutrition in EB patients may be due to the involvement of the mucosa or gis system in KEB, DEB or JEB.

Optimal nutrition is important in cutaneous wound healing, and the levels of vitamins such as ferritin and zinc, and the levels of hemoglobin and albumin, should be at optimal levels [8,17,18]. Anemia is one of the most common laboratory abnormalities in patients with EB [19–21]. Hwang et al. reported that anemia was more common in patients with JEB and DEB [22]. The results of our study were similar to those of previous studies in the literature; more than half of our EB patients had iron deficiency anemia (total 10 patients, 1 had EBS, and 9 had DEB). Albumin levels were also low in 21.42% of the patients (n = 3), and all three of these patients had the DEB subtype. Anemia in patients with EB could be associated with the chronicity of the disease [22] or chronic bleeding from skin lesions [8]. This also explains why anemia is most commonly observed in DEB, which is the most severe form of EB. Moreover, anemia may result from impaired gis absorption and/or nutritional deficiencies due to oral mucosa involvement in patients with EB [23].

Vitamin D deficiency and related osteoporosis have also been reported in all types of EB patients [11]. In addition to gis malabsorption and nutritional deficiencies, lack of sun exposure may also cause vitamin D deficiency in patients with EB [24]. These patients often isolate themselves owing to their chronic wounds and appearance. In our study, six patients had normal levels of vitamin D (46.15%), six patients had vitamin D deficiency (46.15%), and one patient had vitamin D insufficiency (7.7%). In a retrospective cohort study including 200 patients with EB, vitamin D deficiency was found in 67% of the patients, low albumin in 56%, and zinc deficiency in 55% [11,18]. Tsaqilah et al. also found low zinc levels in 50% of patients with EB (n = 6) and low albumin levels in 33.3% (n = 4) [8]. In our study, three patients (21.8%) had hypoalbuminemia, and one patient had low zinc levels (11.1%). Low zinc levels may lead to delayed wound healing. Thus, zinc supplementation has been recommended for patients with EB [25]. In our study, the lower prevalence of zinc and vitamin D deficiency compared to other studies may be due to patients routinely taking these vitamins as supplements during the study.

Patients with EB, particularly DEB, have an increased risk of squamous cell carcinoma (SCC) during late adolescence. In a recent publication, 161 primary SCCs with an average of 10 SCCs per individual were reported in 16 RDEB patients [26]. Cutaneous SCC mostly occurs on the hands and feet and usually arises from chronic non-healing ulcers [14]. In our study, one patient was diagnosed with SCC of the lower extremities (patient 4). SCC is the main cause of death in severe EB types [5]; therefore, routine monitoring of cutaneous lesions is necessary. The risk of SCC development based on chronic wounds is important in patients with EB, and the nutritional status of the patients is important for these wounds to close as quickly as possible.

Genetic studies and advances in EB have led to the discovery of several new subtypes of this rare genodermatosis. Therefore, new gene and cell therapies have emerged with the detection of new genetic mutations [27]. In 2023, birch triterpenes gel (Filsuvez) is the first Food and Drug Administration (FDA)-approved medication for JEB [28]. In May 2023, the FDA also approved B-VEC, a topical gene therapy, for the treatment of wounds in patients with DEB [29]. Most recently, Prademagene zamikeracel (ZEVASKYN^™) which is an autologous cell sheet-based gene therapy received its first approval in April 2025 in the USA for the treatment of wounds of RDEB [30].

Despite these advances in genetics, EB remains incurable. Preventive skin care is the most important approach in EB patients avoiding wound infection in patients with EB. However, studies in the field of genetics continue to be promising in the field of EB, and are aimed at improving the quality of life of EB patients through future genetic research and the discovery of new treatments.

Conclusion

EB is a genetic disease that is associated with many systemic comorbidities. Although many developments have been made in the treatment of EB, there are currently no curative treatment options. A multidisciplinary approach to wound care is essential for the early management of severe EB to avoid the progression of wounds into scars and deformities. Optimal nutritional status may reduce morbidity and mortality, prevent growth and developmental delay, and reduce infectious complications by preventing delays in the healing of chronic wounds in patients with EB.

The current study had some limitations. This was a retrospective study, which may have resulted in data loss. It also included a small number of patients due to the rarity of this genodermatosis and correlation analysis could not be performed due to the small number of patients. In our center, immunofluorescence antigen mapping could not be performed because of a lack of availability.

Funding Statement

The authors declare that they have not used any type of generative artificial intelligence for the writing of this manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

Data results are available upon reasonable request to the corresponding author.