Recessive dystrophic epidermolysis bullosa
- Synonyms
- DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; Epidermolysis Bullosa Distrophica Autosomal Recessive (RDEB); Hallopeau-Siemens Disease; severe generalized recessive dystrophic epidermolysis bullosa
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Ellen G Pfendner
- Anne W Lucky
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Enamel hypoplasia
- Abnormality of limbs
- Mitten deformity
Mitten deformity
- MedGen UID: 369963
- Concept ID: C1969236
- Finding: Congenital Abnormality
Abnormality of limbs
- Mitten deformity
- Abnormality of the digestive system
- Abnormal esophagus morphology
Abnormal esophagus morphology
- MedGen UID: 539700
- Concept ID: C0266126
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Boerhaave syndrome
Boerhaave syndrome
- MedGen UID: 65948
- Concept ID: C0238115
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Esophageal stricture
Esophageal stricture
- MedGen UID: 1637009
- Concept ID: C4551650
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Malnutrition
Malnutrition
- MedGen UID: 56429
- Concept ID: C0162429
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Abnormal esophagus morphology
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Abnormality of the integument
- Abnormal blistering of the skin
Abnormal blistering of the skin
- MedGen UID: 412159
- Concept ID: C2132198
- Finding: Finding
Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Atrophic scars
Atrophic scars
- MedGen UID: 57875
- Concept ID: C0162154
- Finding: Pathologic Function
Abnormality of the integument
- Fragile skin
Fragile skin
- MedGen UID: 66826
- Concept ID: C0241181
- Finding: Finding
Abnormality of the integument
- Milia
Milia
- MedGen UID: 87528
- Concept ID: C0345996
- Finding: Anatomical Abnormality
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Oral mucosal blisters
Oral mucosal blisters
- MedGen UID: 208888
- Concept ID: C0853945
- Finding: Sign or Symptom
Abnormality of the integument
- Sub-lamina densa cleavage
Sub-lamina densa cleavage
- MedGen UID: 1778332
- Concept ID: C5539822
- Finding: Finding
Abnormality of the integument
- Abnormal blistering of the skin
- Abnormality of the musculoskeletal system
- Corneal scarring
Corneal scarring
- MedGen UID: 83899
- Concept ID: C0349702
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Corneal scarring
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
- Neoplasm
- Squamous cell carcinoma
Squamous cell carcinoma
- MedGen UID: 2874
- Concept ID: C0007137
- Finding: Neoplastic Process
Neoplasm
- Squamous cell carcinoma
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.