60: Inherited Epidermolysis Bullosa Flashcards
What are the key characteristics of Dystrophic Epidermolysis Bullosa (DEB)?
Dystrophic Epidermolysis Bullosa is characterized by:
- Blisters that heal with scarring and milium formation.
- Defects in the anchoring fibrils, leading to sublamina densa separation.
- Extensive involvement of the oropharynx in both dominant and recessive forms, causing generalized erosions that limit tongue movement and narrow the oral cavity.
What molecular pathology is associated with Dystrophic Epidermolysis Bullosa?
- Abnormalities of anchoring fibrils range from subtle changes in dominant disease to absence in severe recessive forms.
- Indirect immunofluorescent microscopy shows varying degrees of linear collagen VII staining at the DEJ in dominant patients and absent staining in severe recessive patients.
- Mutations in the gene coding for Collagen VII (COL7A1) are common, with recessive forms usually causing premature termination codons leading to lack of collagen VII in tissue.
What are the clinical features of Autosomal Recessive Dystrophic Epidermolysis Bullosa (RDEB)?
- Increased prevalence of invasive squamous cell carcinoma.
- RDEB mitis: localized form, usually confined to repetitively traumatized skin surfaces, often in an acral distribution; scarring and milium formation accompany healing.
- Hallopeau-Siemens: presents with generalized blistering at birth, may involve extensive denudation of skin, and can lead to progressive scarring and pseudosyndactyly.
What are the implications of mutations in Collagen VII (COL7A1) for Dystrophic Epidermolysis Bullosa?
- Mutations can lead to premature termination codons, resulting in lack of collagen VII in tissue.
- Some mutations do not cause premature termination and produce less severe disease.
- Glycine substitution in the triple helical region can interfere with the assembly of collagen VII, leading to conditions like EB pruriginosa.
What are the common features of Hallopeau-Siemens type of RDEB?
- Presents with generalized blistering at birth.
- May involve extensive denudation of an entire region of skin, often affecting one limb.
- Associated with Bart syndrome and congenital absence of skin.
- Healing and blistering cycles during infancy can lead to progressive scarring and flexion contracture of hands and limbs.
What is the likely diagnosis for a newborn with generalized blistering and extensive denudation of skin involving one limb?
The likely diagnosis is Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa (RDEB). It is associated with mutations in the COL7A1 gene, which encodes Collagen VII.
What genetic mutation is most likely responsible for extensive blistering and scarring in severe RDEB?
The most likely mutation is in the COL7A1 gene, which encodes Collagen VII.
What is the underlying cause of mitten pseudosyndactyly in severe RDEB?
Mitten pseudosyndactyly is caused by progressive scarring that leads to the closure of digits in a ‘mitten’ of skin.
How do mutations in the gene coding for Collagen VII (COL7A1) affect the severity of Dystrophic Epidermolysis Bullosa?
Mutations in the COL7A1 gene can lead to varying severities of Dystrophic Epidermolysis Bullosa:
- In recessive forms, mutations often cause premature termination codons, resulting in a lack of collagen VII in tissue.
- Truncated proteins may not assemble into anchoring fibrils, explaining the absence of detectable collagen VII in severe cases.
- Mutations that do not cause premature termination codons typically result in less severe disease.
What are the clinical implications of RDEB mitis and Hallopeau-Siemens forms of Autosomal Recessive Dystrophic Epidermolysis Bullosa (RDEB)?
The clinical implications of RDEB mitis and Hallopeau-Siemens forms include:
Form | Characteristics |
|———————|—————————————————————————————————-|
| RDEB mitis | - Localized form, usually confined to traumatized skin surfaces, often in an acral distribution.
| | - Accompanied by scarring and milium formation during healing.
| | - Mucosal involvement is mild if present. |
| Hallopeau-Siemens | - Presents with generalized blistering at birth.
| | - May have extensive denudation of skin, often involving limbs.
| | - Associated with Bart syndrome and congenital absence of skin.
| | - Healing cycles can lead to progressive scarring and pseudosyndactyly.
What are the key differences in periorificial involvement between severe JEB and RDEB?
Patients with RDEB do not show significant periorificial involvement, unlike those with severe JEB.
What complications can arise from mucosal erosions in RDEB patients?
Mucosal erosions of the esophagus can lead to stricture formation and webbing, complicating swallowing and nutrition.
What are the common dental issues associated with RDEB?
Patients often experience significant enamel pitting and extensive caries, which can contribute to malnutrition and growth retardation.
What is the prognosis for patients with localized Autosomal Dominant Dystrophic Epidermolysis Bullosa (DDEB)?
Patients with localized DDEB generally have a good prognosis and can expect a normal lifespan.
How does generalized Autosomal Dominant Dystrophic Epidermolysis Bullosa (DDEB) differ from localized DDEB?
Generalized DDEB presents at birth with a more severe and widespread blistering phenotype compared to localized DDEB, which is less severe and may not be apparent until childhood.
What are the common features of nail abnormalities in DDEB patients?
Nail dystrophy and nail loss with atrophic scarring of the distal digits are common in DDEB patients, and sometimes nail abnormalities can be the only presenting symptom.
What is the prognosis for a patient with localized DDEB presenting with dystrophic nails and milia?
The prognosis for localized DDEB is good, with a normal lifespan.
What factors contribute to malnutrition in a patient with severe RDEB?
Factors include oral lesions, dental caries, esophageal strictures, and increased caloric needs. Management includes nutritional support and gastrostomy tube insertion if necessary.
What distinguishes SCC in RDEB from other cutaneous SCCs?
SCC in RDEB is extremely aggressive with a strong tendency for invasion and metastasis.
What other features are commonly associated with localized DDEB besides dystrophic nails?
Other features include blistering localized to traumatized areas, milia, and atrophic scarring of the distal digits.
What are the key differences in clinical presentation between severe Junctional Epidermolysis Bullosa (JEB) and Recessive Dystrophic Epidermolysis Bullosa (RDEB)?
- RDEB patients do not show significant periorificial involvement unlike severe JEB.
- The scalp is the most affected area in RDEB.
- RDEB patients often experience anemia and may have iron absorption deficiencies.
- RDEB is associated with oral lesions, dental caries, and esophageal strictures leading to increased caloric needs and potential malnutrition.
- SCC (squamous cell carcinoma) is common in RDEB, with 50-80% developing these carcinomas, which are aggressive and have strong tendencies for invasion and metastasis.
What are the distinguishing features of localized versus generalized Autosomal Dominant Dystrophic Epidermolysis Bullosa (DDEB)?
Feature | Localized DDEB | Generalized DDEB |
|———|—————-|——————|
| Onset | Can present at birth, but may not be appreciated until childhood | Presents at birth with a more severe phenotype |
| Blistering | Localized to traumatized areas (knees, sacrum, acral surfaces) | More widespread blistering |
| Nail Abnormalities | Nail dystrophy and loss are common | Often show dystrophic or absent nails |
| Oral Lesions | Not common, teeth usually unaffected | Oral erosions can be present but not extensive |
| Prognosis | Good prognosis, normal lifespan | Varies, may have more complications |
What are the key characteristics of Kindler syndrome?
- EB-like trauma-induced blistering at birth and during infancy, with atrophic changes during healing.
- In late childhood, blistering subsides and leads to progressive poikiloderma in sun-exposed areas.
- Poikiloderma may show areas of atrophy, hyperkeratosis, hypopigmentation, hyperpigmentation, and telangiectasia.
- Often presents with photosensitivity.
- Possible nail changes and webbing of toes and fingers, along with internal complications like oral inflammation and strictures.
- Ultrastructurally, there is reduplication of the basement membrane, which is the most consistent feature.
What is the first step in the diagnosis of Kindler syndrome?
The first step in diagnosis involves:
1. Thorough history and physical examination (PE):
- Age of onset of blistering
- Presence of blistering in other family members
- Review of systems (ROS) including GI, Respiratory, Ocular, Dental, and Genitourinary symptoms
- Complete skin exam and evaluation of mucosal tissues, hair, nails, and teeth
- Laboratory examination for anemia and serum albumin.
What is the significance of skin biopsy in the diagnosis of Kindler syndrome?
- It is critical to biopsy a blister as fresh as possible because the interior of blisters rapidly reepithelializes, which can obscure correct determination of blister levels.
- A biopsy should cover 10% visible blister and 90% intact skin.
- Transmission electron microscopy is considered the gold standard for diagnosis.
- Pathognomonic findings include clumping of keratin intermediate filaments in basal keratinocyte cytoplasm for severe generalized EBS.
What are the steps involved in gene mutation analysis for Kindler syndrome?
The steps involved in gene mutation analysis include:
1. Blood samples or buccal swabs are taken from the patient.
2. Samples are also collected from parents and siblings for genetic analysis to identify mutations associated with Kindler syndrome.
What are the characteristic features of poikiloderma in Kindler syndrome?
Poikiloderma in Kindler syndrome includes areas of atrophy, hyperkeratosis, hypopigmentation, hyperpigmentation, and telangiectasia, often in sun-exposed areas.
What is the most consistent ultrastructural feature of Kindler syndrome?
The most consistent ultrastructural feature is reduplication of the basement membrane.
What internal complications are commonly associated with Kindler syndrome?
Internal complications include oral inflammation, esophageal or ureteral strictures, and ectropion.
What diagnostic steps should be taken to confirm Kindler syndrome?
Diagnostic steps include a thorough history and physical exam, skin biopsy, and genetic analysis for KIND1 mutations.
What ultrastructural abnormalities are associated with photosensitivity in Kindler syndrome?
Ultrastructural abnormalities include reduplication of the basement membrane and sublamina densa splits.
What are the key clinical features of Kindler syndrome that differentiate it from other forms of epidermolysis bullosa?
Key clinical features of Kindler syndrome include:
- EB-like trauma-induced blistering at birth and during infancy.
- Progressive poikiloderma in late childhood, affecting sun-exposed areas.
- Areas of atrophy, hyperkeratosis, hypopigmentation, hyperpigmentation, and telangiectasia.
- Photosensitivity is often present.
- Nail changes and webbing of toes and fingers, with potential internal complications such as oral inflammation and strictures.
- Ultrastructural findings include reduplication of the basement membrane, which is the most consistent feature.
What is the significance of performing a skin biopsy in the diagnosis of epidermolysis bullosa, particularly in Kindler syndrome?
The significance of performing a skin biopsy in the diagnosis of epidermolysis bullosa, especially in Kindler syndrome, includes:
1. Timeliness: It is critical to biopsy a blister as fresh as possible to avoid rapid reepithelialization, which can obscure the determination of blister levels.
2. Diagnostic Accuracy: A biopsy can reveal:
- 10% coverage of visible blister and 90% intact skin.
- Transmission electron microscopy is considered the gold standard for identifying structural abnormalities.
- Pathognomonic findings such as clumping of keratin intermediate filaments in basal keratinocyte cytoplasm for severe generalized forms.
3. Localization of Antigens: Indirect immunofluorescent microscopy can help localize antigens to determine the level of skin separation in the basement membrane zone (BMZ).
What steps should be taken in the genetic analysis for diagnosing Kindler syndrome, and why is it important?
The steps for genetic analysis in diagnosing Kindler syndrome include:
1. Sample Collection: Blood samples or buccal swabs are taken from the patient, as well as from parents and siblings.
2. Genetic Testing: The samples are analyzed for mutations in genes associated with epidermolysis bullosa, particularly those related to kindlin 1.
Importance:
- Confirmatory Diagnosis: Genetic analysis helps confirm the diagnosis of Kindler syndrome by identifying specific mutations.
- Family Planning: Understanding the genetic basis can aid in genetic counseling for affected families.
- Tailored Management: Knowledge of the specific genetic mutation can guide treatment strategies and management of complications.
What are the key components of genetic counseling for Epidermolysis Bullosa (EB)?
- Analysis of chorionic villus sampling as early as 8 to 10 weeks.
What is epidermolysis bullosa related to?
Epidermolysis bullosa is particularly related to kindlin 1.
What is the importance of genetic analysis in Kindler syndrome?
Genetic analysis helps confirm the diagnosis of Kindler syndrome by identifying specific mutations.
How does genetic counseling assist affected families of Epidermolysis Bullosa (EB)?
Understanding the genetic basis can aid in genetic counseling for affected families.
What is the primary goal of treatment for Epidermolysis Bullosa (EB)?
The primary goal of treatment for EB is avoidance of trauma.
What are the recommended strategies for supportive skin care in EB?
- Prevention of infection:
- Modified Dakin solution (0.025% w/v sodium hypochlorite) for 20 mins
- Mupirocin or other topical antibiotics
- Semiocclusive nonadhesive dressings (avoid using tape)
- Self-adhering gauze or self-adherent paper to hold nonadherent dressings in place
- For EBS:
- Control exposure to heat
- Use soft, well-ventilated shoes
- For DEB:
- Finger splinting or diligent hand wrapping
- Hand protection
What are common infection agents in Epidermolysis Bullosa (EB) and their management?
Common infection agents include Staphylococcus aureus and Streptococcus pyogenes. Management includes skin cultures and appropriate systemic antibiotics for wound infection, gentle whirlpool therapy, frequent daily dressing changes, dilute chlorine baths, rotation of topical antibiotics, and use of topical disinfectants (povidone iodine) to reduce resistant bacteria.
What surgical treatments are recommended for severe RDEB?
Surgical treatment for severe RDEB (Hallopeau Siemens) includes addressing mitten psudosyndactyly, splinting after surgery to reduce recurrence of hand deformities, correction of limb, perioral, and perineal contracture deformities, though recurrence is common, and minimizing trauma to oral mucosa during intubation.
What is the significance of tumors in RDEB and their management?
SCC (squamous cell carcinoma) often arises after puberty in RDEB and may occur in multiple primary sites, especially in nonhealing areas. Management includes surgical excision using either Moh’s or non-Moh’s approaches as an important first-line modality, radiation therapy as a useful adjunct, and isotretinoin has been used for chemoprevention.
What chemopreventive agent has been used for aggressive SCC in RDEB?
Isotretinoin has been used for chemoprevention in SCC associated with RDEB.
What genetic counseling options are available for at-risk families of severe RDEB?
Options include genetic screening of at-risk pregnancies using chorionic villus sampling or amniocentesis.
What systemic antibiotics are indicated for wound infections in severe RDEB?
Systemic antibiotics should be chosen based on skin culture results to target specific pathogens like Staphylococcus aureus or Streptococcus pyogenes.
What surgical intervention is recommended for mitten pseudosyndactyly in severe RDEB?
Surgical intervention for mitten pseudosyndactyly involves releasing the digits. Postoperative splinting is essential, but recurrence of hand deformities is common.
What diagnostic options are available during pregnancy for a woman with a family history of EB?
Diagnostic options include chorionic villus sampling as early as 8-10 weeks of gestation and amniocentesis in the second trimester.
What preventive measures can be taken for patients with EBS experiencing frequent blistering in hot weather?
Preventive measures include controlling exposure to heat, using soft, well-ventilated shoes, and avoiding trauma to the skin.
What treatment options are available for aggressive squamous cell carcinoma (SCC) in RDEB?
Treatment options include surgical excision (Moh’s or non-Moh’s approaches) and radiation therapy as an adjunct. SCC in RDEB is highly aggressive with a strong tendency for invasion and metastasis.
What strategies can be employed to prevent and manage recurrent infections in severe RDEB?
Strategies include using modified Dakin solution, mupirocin or other topical antibiotics, semiocclusive nonadhesive dressings, and systemic antibiotics for wound infections.
What surgical and postoperative measures are recommended for extensive scarring and flexion contractures in severe RDEB?
Surgical release of contractures is recommended, followed by splinting to reduce recurrence.
What topical therapies can be used to prevent infection in severe RDEB?
Topical therapies include modified Dakin solution, mupirocin, and semiocclusive nonadhesive dressings.
What are the key components of genetic counseling for Epidermolysis Bullosa (EB) during pregnancy?
Key components include chorionic villus sampling as early as 8 to 10 weeks of gestation, amniocentesis in the second trimester, and development of highly informative intragenic and flanking polymorphic DNA markers for candidate genes, allowing for rapid screening of genetic hotspots to assess risk in pregnancies.
What are the common gastrointestinal complications associated with RDEB and JEB?
Common gastrointestinal complications include esophageal lesions, esophageal strictures, and the need for gastrostomy tube insertion. Management includes increased fluid and fiber intake, and stool softeners may help with constipation and colitis.
What are the ocular complications seen in patients with RDEB and JEB?
Ocular complications include Dowling Meara, corneal ulcerations, and cicatricial conjunctivitis in RDEB. Treatment includes antibiotic ointments and cycloplegic agents to reduce ciliary spasms.
What nutritional challenges do patients with EB face?
Nutritional challenges include oropharyngeal and GI lesions posing the greatest threat to nutritional well-being, anemia of chronic disease, and severe iron deficiency in RDEB patients.
What psychological aspects are associated with Epidermolysis Bullosa?
Patients are often plagued with chronic pain and it is important to identify warning signs of depression in these patients.
What are the recommendations for oral hygiene in EB patients?
Good dental hygiene is essential for EB patients. Mouthwashes containing alcohol or harsh agents should be avoided. Normal saline rinses are effective for gentle cleaning of the mucosal surfaces.
What is the recommended management strategy for esophageal strictures in RDEB?
Esophageal strictures in RDEB are managed with dilation, though recurrence is common. Gastrostomy tube insertion may be necessary for nutrition.
What treatments are recommended for corneal ulcerations and scarring in patients with JEB?
Treatments include antibiotic ointments, cycloplegic agents to reduce ciliary spasms, moisture chambers, ocular lubricants, and surgical interventions like full-thickness skin grafting for severely affected eyelids.
What additional treatments should be considered for severe RDEB patients with chronic anemia unresponsive to oral iron?
Assess erythropoietin (EPO) levels and treat with recombinant EPO if necessary. Blood transfusions may also be required.
What measures can improve oral function and hygiene in severe RDEB patients with microstomia and ankyloglossia?
Measures include avoiding mouthwashes with alcohol, using normal saline rinses for gentle cleaning, and maintaining good dental hygiene.
What is the role of erythropoietin in managing anemia in severe RDEB?
Erythropoietin can stimulate red blood cell production and is used when anemia does not respond to oral iron supplementation.
What are the implications for dental care in JEB patients with hypoplastic enamel and oral candidiasis?
Dental care should focus on preventing tooth decay and managing mucosal blistering. Regular dental check-ups and antifungal treatments may be necessary.
What is the likely cause of dilated cardiomyopathy in severe RDEB, and how should it be managed?
Dilated cardiomyopathy is likely caused by chronic anemia. Management includes treating anemia with recombinant EPO or transfusions.
What laboratory tests and treatments are indicated for anemia of chronic disease in severe RDEB?
Tests include serum iron and erythropoietin levels. Treatments may involve recombinant EPO and blood transfusions.
What preventive measures can be taken to protect the eyes in patients with JEB who have developed corneal erosions?
Preventive measures include using moisture chambers, ocular lubricants, and avoiding trauma to the eyes.
What surgical intervention may be necessary for recurrent esophageal strictures in severe RDEB?
Esophageal dilation may be necessary, though recurrence is common.
What additional diagnostic tests should be performed for severe RDEB patients with anemia unresponsive to oral iron?
Tests should include serum erythropoietin levels and a complete blood count to assess the severity of anemia.
What psychological aspects should be addressed in the management of chronic pain in severe RDEB?
Management should include identifying warning signs of depression and providing support for chronic pain.
What dietary modifications can help manage esophageal strictures in severe RDEB?
Dietary modifications include increased fluid and fiber intake and the use of stool softeners to manage constipation.
What should caregivers identify in relation to depression?
Caregivers should identify warning signs of depression.
What support strategies can caregivers provide for individuals with depression?
Provide emotional support and encourage open communication about feelings. Facilitate access to mental health resources and counseling.
What are the potential cardiovascular complications associated with severe forms of EB?
Severe forms of EB can lead to dilated cardiomyopathy, a potentially fatal complication associated with chronic anemia.
What management strategies are recommended for dilated cardiomyopathy in EB?
Regular monitoring of cardiac function. Addressing anemia through transfusions or EPO treatment as necessary.
What are the current treatments indicated for Dystrophic Epidermolysis Bullosa (DEB)?
Tetracycline and phenytoin are not currently indicated treatments for DEB. However, Losartan is used to reduce fibrosis accompanying DEB wounding by reducing TGF-B expression in the skin.
What is the significance of allogeneic bone marrow transplantation in RDEB?
Allogeneic bone marrow transplantation performed on RDEB noted collagen VII staining at the DEJ for 1 year or longer; however, restoration of anchoring fibrils was incomplete. There is a 30% mortality rate due to widespread cutaneous erosions and the need for immunosuppression for successful transplant.
What are the outcomes of autologous genetic therapies in RDEB?
Autologous genetic therapies include retroviral ex vivo gene therapy using autologous keratinocytes. After 6.5 years of postgrafting, grafts showed positive expression of laminin 332 and resistance to blistering. Restoration of collagen VII expression and anchoring fibril formation can last for as long as 1 year.
What are the characteristics of Hallopeau Siemens EB?
Hallopeau Siemens EB presents with generalized blistering in infancy, extensive denudation of skin at birth, healing and blistering cycles leading to intermittent scarring, and pseudosyndactyly resulting from skin closure. SCC can develop in 50-80% of cases, leading to metastatic disease.
What are the key features of Kindler syndrome?
Kindler syndrome features include EB-like trauma-induced blistering at birth, progressive poikiloderma in adulthood, and photosensitivity. A consistent feature is the reduplication of the basement membrane, along with decreased expression of kindlin 1 KIND 1.
What ocular features are associated with RDEB and JEB?
Common ocular features seen in both RDEB and JEB include corneal ulcerations with scarring. However, obliteration of tear ducts is not typically associated with these conditions.
What are the potential benefits and risks of allogeneic bone marrow transplantation for a patient with severe RDEB?
Benefits include collagen VII staining at the dermal-epidermal junction for up to a year. Risks include a 30% mortality rate due to widespread cutaneous erosions and immunosuppression.
What novel treatment has been found to reduce blister formation in EBS with inflammatory skin phenotypes?
Diacerain, an interleukin B blocker derived from rhubarb root, has been found to reduce blister formation in EBS with inflammatory skin phenotypes.
What outcomes have been observed with retroviral ex vivo gene therapy using autologous keratinocytes in RDEB?
Outcomes include positive expression of laminin 332 and resistance to blistering for up to 6.5 years post-grafting.
What are the implications of using Losartan in the treatment of Dystrophic Epidermolysis Bullosa (DEB)?
Losartan is used to reduce fibrosis accompanying DEB wounding by decreasing the expression of TGF-B in the skin, which may help improve healing and reduce scarring.
What are the potential outcomes and risks associated with allogeneic bone marrow transplantation in patients with RDEB?
Allogeneic bone marrow transplantation in RDEB can lead to collagen VII staining at the DEJ for 1 year or longer; however, there is a 30% mortality rate due to widespread cutaneous erosions and the need for immunosuppression, which is critical for the success of the transplant.
How does gene editing via CRISPR/Cas9 represent a promising future therapy for patients with Epidermolysis Bullosa?
Gene editing via CRISPR/Cas9 combined with induced pluripotent stem cells offers a potential future therapy for Exon skipping, which may help restore normal function in patients with genetic forms of Epidermolysis Bullosa.
What ocular features are commonly associated with RDEB and JEB, and which feature is not typically seen in both?
Common ocular features in RDEB and JEB include corneal ulcerations with scarring. However, obliteration of tear ducts is not typically seen in both conditions.
What are three steps in the diagnosis of Epidermolysis Bullosa (EB)?
- Review of systems: Assess gastrointestinal, respiratory, ocular, or growth abnormalities.
- Physical exam: Look for scarring, atrophy, or milia, and examine nails, eyes, mucosa, hair, and teeth.
- Biopsy: Conduct high-resolution microscopy to confirm diagnosis and rule out other disorders.
What is the primary goal in the treatment of Epidermolysis Bullosa (EB)?
The primary goal in the treatment of EB is to support wound care and nutrition, instruct families, and manage complications such as infections, anemia, and extraneous diseases through a multidisciplinary approach.
What are the clinical manifestations of Epidermolysis Bullosa Simplex (EBS)?
EBS is characterized by sudden onset of grouped or herpetiform blisters, extensive erosions, nail shedding, and dystrophy of palmoplantar hyperkeratosis in older children.
What is the age of onset for Generalized Intermediate Epidermolysis Bullosa (EIB)?
The age of onset for Generalized Intermediate EIB is at birth.
What are the sequelae and complications associated with Junctional Epidermolysis Bullosa (JEB)?
JEB can lead to extensive blistering, perioral granulation tissue, tracheal stenosis or obstruction, failure to thrive, and sepsis.
How does Localized Dystrophic Epidermolysis Bullosa (DDEB) present clinically?
Localized DDEB presents with blisters, nail dystrophy, or nail loss, typically localized to sites of trauma such as knees, sacrum, and acal areas.
What are the clinical manifestations of Severe RDEB?
Severe RDEB is characterized by extensively denuded skin, enamel pitting with caries, and loss of teeth, along with potential for pseudostangulation and flexion contractures of hands and limbs.
How does the distribution of Generalized Intermediate Epidermolysis Bullosa (EIB) differ from Localized Epidermolysis Bullosa (LEB)?
Generalized Intermediate EIB is most prominent on hands, feet, and extremities with mild oral mucosal involvement, while LEB is localized (most often on hands, feet, and peritibial regions) with minimal oral mucosal involvement.
What are the clinical manifestations of Dystrophic Epidermolysis Bullosa (DEB) in its localized form?
Localized DEB is characterized by blisters, nail dystrophy, or nail loss that may be presenting symptoms, typically localized early in life to sites of trauma.
What complications can arise from Severe Hereditary Epidermolysis Bullosa (HREB)?
Severe HREB can lead to extensively cleaned skin, enamel pitting with caries, loss of teeth, and complications such as pseudostangulation, flexion contractures of hands and limbs, and malnutrition.
