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Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive(EBS2D)

MedGen UID:
1794224
•Concept ID:
C5562014
•
Disease or Syndrome
Synonyms: EBS2D; EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0030535
OMIM®: 619599

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D (EBS2D) is characterized by widespread intraepidermal skin blistering and erosions from birth (summary by Vahidnezhad et al., 2019). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/619599

Clinical features

From HPO
Mitten deformity
MedGen UID:
369963
•Concept ID:
C1969236
•
Congenital Abnormality
Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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Pectus carinatum
MedGen UID:
57643
•Concept ID:
C0158731
•
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
See: Feature record | Search on this feature
Recurrent upper respiratory tract infections
MedGen UID:
154380
•Concept ID:
C0581381
•
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
See: Feature record | Search on this feature
Sepsis
MedGen UID:
48626
•Concept ID:
C0036690
•
Disease or Syndrome
Systemic inflammatory response to infection.
See: Feature record | Search on this feature
Oral mucosal blisters
MedGen UID:
208888
•Concept ID:
C0853945
•
Sign or Symptom
Blisters arising in the mouth.
See: Feature record | Search on this feature
Abnormal blistering of the skin
MedGen UID:
412159
•Concept ID:
C2132198
•
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
See: Feature record | Search on this feature
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