Complexities of care in a pediatric patient with epidermolysis bullosa acquisita and duchenne muscular dystrophy: a case report

Abstract

Background

Type VII collagen autoantibodies drive epidermolysis bullosa acquisita (EBA), a rare autoimmune blistering disorder. While typically seen in adults, pediatric cases—especially those with additional comorbidities—present unique clinical challenges.

Case presentation

We describe a rare and diagnostically complex case of a 5-year-old Jordanian female with a history of epidermolysis bullosa and Duchenne muscular dystrophy (DMD), an X-linked disorder predominantly affecting males; the diagnosis of DMD in our patient was based on historical clinical and biopsy findings, as genetic confirmation was unavailable owing to the external nature of the original diagnosis. She presented with extensive blistering, chronic wounds, recurrent infections, and profound metabolic disturbances, including severe electrolyte imbalances and liver dysfunction. The coexistence of EBA and DMD introduces unique diagnostic uncertainties, necessitating a multidisciplinary approach incorporating advanced wound care, infection prevention, nutritional support, and genetic counseling.

Conclusion

This case represents one of the few documented reports of EBA co-occurring with DMD in a female patient, highlighting critical gaps in understanding its pathophysiologic interactions. The complex disease interplay exacerbates systemic complications, demanding a highly individualized and interdisciplinary care strategy. Recognizing atypical DMD presentations and refining diagnostic criteria for such rare coexisting conditions are essential. Additionally, streamlining management approaches and providing robust education and support for affected families remain crucial.

Background

Epidermolysis bullosa acquisita (EBA) is a rare, chronic, autoimmune subepidermal blistering disorder. Autoantibodies against type VII collagen, an integral component of anchoring fibrils in the basement membrane zone (BMZ) in the dermal–epidermal junction, are characteristic of it [1]. EBA is typically first seen in adulthood (median onset at age 50 years); cases in children have also been reported [2–5]. EBA manifests in two main clinical forms: mechanobullous and inflammatory. The skin fragility and the blistering form take place in the trauma-prone areas of the body in the mechanobullous type, while the inflammatory type presents lesions in both trauma-prone and nontrauma-prone regions of the body. The skin can also be involved, with blisters and erosions occurring in the oral, nasal, pharyngeal, and anogenital areas in association with mucous membranes. All of these manifestations commonly result in complications such as dysphagia, dysphonia, dysuria, and dyspareunia. Pain and pruritus are common, and the chronic nature of the disease with recurrent blistering can result in skin scarring, the formation of milia, atrophy of skin appendages, and dental involvement. Severe EBA can lead to blindness, esophageal stricture, hand joint contractures, and degenerative changes of distal phalanges. EBA treatment is daunting in the face of all this complexity, and these clinical features are the result of a compendium of pathology involving circulating antibodies to type VII collagen and autoreactive T cells [6]. Rare genetic disorder duchenne muscular dystrophy (DMD) causes early signs of progressive weakness of the musculoskeletal system. It is a hereditary, X linked chronic disease about 1 in about 3500 male live births and rarely in females, it first described by French neurologist Guillaume Benjamin A. Duchenne around 1860. Estimated incidence is 19.8–25.1 per 100,000 person years [7]. DMD is one of the more common and severe forms of MD in boys, first producing clinical symptoms in the age range of 3–5 years, including calf hypertrophy and proximal muscle weakness [8]. The condition has a very characteristic and invariable clinical profile, and there is a very high mutation rate. Most patients are wheelchair dependent by their early twenties, and others do not walk by age twelve [9]. Treatment approaches vary, but the primary systemic treatment approach consists of the combination of corticosteroids with dapsone, using azathioprine, colchicine, or more mycophenolate mofetil as adjuvant therapies to prednisone [10]. In this report, we present a rare and highly complex case of a pediatric patient with a history of epidermolysis bullosa (EB), now complicated by DMD. This dual diagnosis, seldom documented in the literature, has resulted in extensive skin blistering, chronic wounds, recurrent infections, severe electrolyte imbalances, metabolic disturbances, and elevated liver enzymes. The overlapping disease pathologies present profound management challenges, requiring a multidisciplinary approach incorporating advanced wound care, infection control strategies, nutritional optimization, and genetic counseling. This case underscores the formidable burden posed by the coexistence of these two debilitating conditions, highlighting the need for individualized and highly specialized care.

Case presentation

The case involves a 5-year and 11-months-old Jordanian female patient whose orange-yellow skin blisters have been extensive, chronic wounds, and multiple laboratory abnormalities that are suggestive of metabolic disturbances. The patient has a history of EB, which is an inherited disease that causes a great deal of skin fragility and is characterized by constant blistering and wound formation. Recurrent infections have gone hand in hand with her open wounds, making things worse. Feeding difficulties, stunted growth, and development delays may also be seen in the patient as a result of malnutrition and complications with recurrent infections. They have told caregivers that caring for her wounds has been getting harder and harder, including recent lab work that indicates worsening electrolyte imbalances and abnormal liver function. Past medical history of the patient includes a diagnosis of EB at an early age, which has required multiple hospitalizations for wound management and infections. In addition, she has a history of DMD, a condition in which creatures progressively weaken muscles, which can lead to respiratory complications. On the basis of the available patient data, there is no documented family history of DMD beyond its established X-linked inheritance pattern. Feeding challenges and nutrient malabsorption are likely to result in nutritional deficiencies, while persistent abnormalities of liver enzymes, sodium, potassium, and calcium levels require ongoing monitoring and intervention. Her current medications consist of electrolyte replenishers as needed with regard to serum levels, specific wound care management treatments, and antibiotic prophylaxis because of her high risk for infections. The patient appears frail on physical examination, having chronic illness and being malnourished. She has diffuse blistering erosion, ulcerations, and serous and purulent discharge of her skin. Hyperpigmented scarring is present in some areas. No murmurs or abnormal heart sounds in cardiovascular examination, and clear breath sounds on respiratory assessment, though respiratory effort is restricted by muscle weakness. There may be some mild tenderness of the right upper quadrant of the abdomen, consistent with liver involvement.

Significant abnormalities are found in the laboratory. For instance, on 16 November 2022, serum sodium was low at 134 mmol/L (normal range: elevations greater than the normal range were seen for potassium with a value of 5.34 mmol/L (normal range: 3.5–5.1 mmol/L) and slightly elevated for magnesium at 136–145 mmol/L. A subsequent lab test on 11 October 2024, indicated critically low potassium levels at 1.92 mmol/L and elevated urea at 17.6 mmol/L (normal range: 2.5–7.1 mmol/L). The electrolyte imbalances are worrying and need to be addressed urgently. Additionally, the patient’s liver enzymes are significantly elevated, with AST at 266 U/L (normal range: hepatic stress or damage was suggested by ALT at 365 U/L (normal range 7–56 U/L and ALT 365 U/L) and elevated AST and ALT at 22 U/L and 10–40 U/L, respectively (Table 1).

Table 1.

Laboratory findings

Date	Test	Result	Reference range	Interpretation
16 November 2022	Sodium (Serum)	134 mmol/L	136–145 mmol/L	Low
	Potassium (Serum)	5.34 mmol/L	3.5–5.1 mmol/L	High
	Calcium (Serum)	2.01 mmol/L	2.1–2.6 mmol/L	Low
	Urea (Serum)	4.4 mmol/L	2.5–7.1 mmol/L	Within normal range
	Creatinine (Serum)	70 µmol/L	45–90 µmol/L	Within age-appropriate range
	Bilirubin (Total)	0.1 mg/dL	0.1–0.2 mg/dL	Normal
	Bilirubin (Direct)	0.0 mg/dL	0–0.2 mg/dL	Normal
	Alkaline Phosphatase	129 U/L	0–208 U/L	Normal
	AST	16.7 U/L	10–40 U/L	Normal
	ALT	53 U/L	7–56 U/L	Normal
11 October 2024	Sodium (Serum)	131 mmol/L	136–145 mmol/L	Low
	Potassium (Serum)	1.92 mmol/L	3.5–5.1 mmol/L	Critically Low
	Urea (Serum)	17.6 mmol/L	2.5–7.1 mmol/L	High
	Creatinine (Serum)	45 µmol/L	45–90 µmol/L	Normal
	Calcium (Serum)	1.57 mmol/L	2.1–2.6 mmol/L	Low
	Bilirubin (Total)	0.6 mg/dL	0.1–0.2 mg/dL	Slightly elevated
	Bilirubin (Direct)	0.3 mg/dL	0–0.2 mg/dL	Elevated
	Alkaline phosphatase	200 U/L	0–208 U/L	Borderline High
	AST	266 U/L	10–40 U/L	High
	ALT	365 U/L	7–56 U/L	High

The skeletal and thoracic X-ray findings were notable for the chronic nutritional deficiencies apparent and underlying muscular dystrophy. Osteopenia (a reduction in bone density that arises from prolonged malnutrition and possibly disuse secondary to muscle weakness associated with DMD) is specifically noted. Additionally, mild scoliosis of the mid-thoracic region was evident on thoracic imaging, attributed to muscular imbalances and instability known to be inherent in the patient’s muscular dystrophy. The good news is that no fractures were seen, a common occurrence in patients with osteopenia, which has a greater fracture risk. Furthermore, there is only a minimal degree of respiratory involvement, as the lung fields are clear, without evidence of recent acute pulmonary infection or atelectasis. These findings therefore provide support for targeted nutritional and physical therapy interventions to strengthen musculoskeletal stability and minimize complications for these diagnoses (Fig. 1).

Fig. 1.

X-ray imaging reveals osteopenia consistent with chronic nutritional deficiencies (a), as well as mild scoliosis in the mid-thoracic spine related to muscular dystrophy (a and b). No acute fractures or pulmonary abnormalities are observed, indicating minimal respiratory involvement at this time

Realizing the nature of this complex case requires a multidisciplinary approach. Advanced wound care and infection prevention strategies are being consulted with dermatology; recurrent infections and possible sepsis prophylaxis are being consulted with pediatric infectious disease; and an annual review of elevated liver enzymes and nutritional support is being consulted with gastroenterology and hepatology. A nutritionist is consulted to formulate a customized nutritional support plan for malnutrition and for electrolytes, and a physical therapist helps implement muscular support and activity recommendations designed for the patient with DMD. A final step is a genetics consultation to move forward with further genetic counseling for family support and confirmation of having EB and muscular dystrophy (Table 2).

Table 2.

Consultations

Consultant specialty	Consultation purpose
Dermatology	Wound care for EB; advanced management of open lesions and infection prevention strategies
Pediatric infectious disease	Guidance on managing recurrent infections and potential sepsis prophylaxis
Gastroenterology/Hepatology	Assessment of elevated liver enzymes, nutritional support, and possible need for hepatic imaging
Nutritionist	Development of a nutritional support plan to address malnutrition, low calcium, and electrolyte needs
Physical therapy	Muscular support and physical activity recommendations tailored to DMD
Genetics	Evaluation for further genetic counseling for family support and confirmation of both EB and muscular dystrophy pathology

DMD exacerbated by EB is the primary complex presented in this assessment. Additionally, the patient’s clinical course is complicated by severe skin fragility, muscle weakness, recurrent infections, and nutritional deficiencies. Important electrolyte imbalances and elevated liver enzymes, presumably as a consequence of the chronic disease burden and metabolic stress, are highlighted by the laboratory findings. It has some key interventions. Potassium replacement therapy, as well as calcium and sodium supplementation, along with regular monitoring and readjustments, will be given first for the critically low potassium levels. For wound care, a sterile dressing protocol will be established to prevent infection, and daily wound checking will be done by the dermatology team. Prophylactic antibiotic coverage will be given on the basis of culture results, and the group will continue to be monitored for signs of sepsis. In general terms, nutritionally, we begin with a high-calorie, high-protein diet, keeping enteral feeding as an option if oral intake is still below that level of nutrition. Liver function tests and renal panel monitoring will be vital to catch trends, and hepatotoxic medications will be avoided where possible. The prognosis remains guarded given the severity of her conditions and complications associated with them. She will require comprehensive, multidisciplinary care for metabolic stabilization, prevention of infections, and nutrition to improve her quality of life and reduce her hospitalizations. Ongoing challenges with her diagnoses are managed with regular follow-ups and education for not only the patient but the family that needs to care for her and provide for her upkeep.

Discussion

As both a 5-year and 11-months-old female patient and one who has the additional genetic burden of EB and DMD, this is an extremely complex case. This patient has chronic open wounds with recurrent infections resulting in worsening nutritional and metabolic status with her hallmark EB of skin fragility and blistering. In her presentation, this metabolic derangement, with a critical low potassium of 1.92 mmol/L and persistently high liver enzymes (AST of 266 U/L and ALT of 365 U/L), reflects the systemic impact of this on multiple organ systems. While rEFB does not typically feature extensive scarring or high rates of complications, that is not to say the pattern of severe skin blistering and systemic involvement we see in this patient, and in other more severe types of EB, including recessive dystrophic EB (where you are more likely to get extensive scarring and go on to develop complications like infections and malnutrition), is not this [11].

Data from the National EB Registry (NEBR) on the epidemiology of the disease indicate that all types of EB between 11.1 and 1 per one million individuals occur, and recessive dystrophic EB forms the most of cases in severe form. Of note, EB of severe recessive dystrophic type has an increased risk of rapidly developing aggressive SCC with cumulative metastatic SCC death rate approaching 40% by the age of 35 years [12]. The patient is young, but the risk of SCC is very high as it has the potential to lead to complications in the long term. In addition, the increased incidence of severe EB in Middle Eastern and European populations with high rates of consanguinity supports genetic counseling for the risk in a family and for future care [13].

Our patient was previously diagnosed with DMD at another hospital on the basis of clinical symptoms and muscle biopsy findings. However, detailed diagnostic records and genetic confirmation are unavailable, as the evaluation was conducted outside the country. DMD diagnosis adds to her clinical picture, as muscle degeneration in DMD commonly culminates in respiratory and cardiac complications by early adulthood. DMD affects roughly one in 3500 male births worldwide, with documented cases fewer in females, making her dual diagnosis partly owing to her being in a particularly rare clinical subset with unique management considerations. DMD has already caused early muscular weakness, limiting her ability to ambulate and heightening her risk of respiratory compromise and disease-related infections given her inability to independently regulate physical activity. Physical therapy has been consulted to slow the muscular degeneration that is crucial to her quality of life and to mitigate risks posed by her limited mobility. Management of her condition involves a collaborative, multidisciplinary approach, and dermatology plays an integral part in providing wound care to prevent life-threatening infections that are common in patients with EB and severe, recurring blistering [14]. The presence of DMD likely exacerbates wound healing challenges associated with EBA, as progressive muscle degeneration reduces mobility, increases pressure injuries, and alters inflammatory responses. Conversely, the chronic inflammation and recurrent infections characteristic of EBA may contribute to systemic metabolic stress, further accelerating muscle deterioration in DMD. The coexisting conditions introduce unique challenges beyond typical disease courses seen in isolated EBA or DMD cases. Reduced mobility due to early-onset DMD amplifies the risk of infection and pressure-induced blistering, while chronic EBA-related inflammation may further strain metabolic homeostasis and organ function. Her severe malnutrition is being addressed by a nutritionist, who has designed a high-calorie, high-protein diet that may include enteral feeding to offset her nutrient deficiencies. Gastroenterology and hepatology consultation is required for her metabolic derangements and liver enzyme elevations owing to her prolonged malnutrition and chronic inflammatory state to monitor for possible hepatic complications. The global and often severe nature of EB and reports from Australia, Norway, and Canada confirm that morbidity is frequently high, particularly around nutritional deficits and organ dysfunction, findings also present in this patient [15]. This case demonstrates unique complications of DMD and how both severe forms of EB are as serious in their morbidity and mortality. However, these patients with dystrophic EB have significant complications in eating and swallowing; studies show that almost all patients with EB experience these, which contributes to malnutrition and stunted growth. Secondly, patients with severe EB have comorbidities (for example, renal failure) and have a 12% mortality risk by age 35 years [16]. This makes her susceptibility to recurring infections even worse, and monitoring for respiratory as well as hepatic complications will be routine. Prognosis is guarded, and despite frequent follow-up, infection prevention, and specialized nutritional support, the risk of hospitalization and a poor quality of life remains high. This complex inherited condition needs family education and genetic counseling to help manage her and inform both the care strategy and potential future needs.

Conclusion

This case highlights the complex and underexplored interaction between epidermolysis bullosa acquisita and Duchenne muscular dystrophy, underscoring the diagnostic uncertainties and overlapping pathophysiologic mechanisms at play. The coexistence of these two conditions presents unique challenges in disease management, particularly as DMD is rarely seen in female patients and its systemic impact on EBA remains poorly understood. This young girl’s severe blistering, chronic wounds, recurrent infections, and metabolic disturbances required a highly individualized, multidisciplinary approach that integrated dermatological, neuromuscular, and nutritional care strategies. The bidirectional effects of EBA and DMD likely exacerbated systemic complications, reinforcing the importance of early intervention and close monitoring. Additionally, this case emphasizes the necessity of comprehensive education and psychosocial support for families, as effective chronic disease management extends beyond medical treatment to include caregiver guidance and adaptive coping strategies. By further investigating the interplay between these rare disorders, clinicians can refine therapeutic approaches and develop more targeted interventions to improve outcomes for similar cases in the future.

Author contributions

Khayry Al-Shami, Ziad Haddad, Malath Mohammad Yousef Abuelrub, Basel Adnan Adel Qaddoumi, Falah Qudah, Tala Abdelaziz Abdullateef Shandaq, Manar Al-Shami, and Saja Karaja drafted the manuscript and revised it.

Funding

None.

Data availability

Not applicable.

Declarations

Ethics approval and consent to participate

Not applicable.

Consent for publication

Written informed consent was obtained from the patient’s parents for publication of this case report. A copy of the written consent is available for review by the editor-in-chief of this journal.

Methods

This work has been reported in line with the CARE criteria [17].

Competing interests

None.