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Epidermolysis bullosa, lethal acantholytic(EBLA)

MedGen UID:
400622
Concept ID:
C1864826
Disease or Syndrome
Synonyms: EBLA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: DSP
Cytogenetic location: 6p24.3
OMIM: 609638

Clinical features

Phimosis
MedGen UID:
45872
Concept ID:
C0031538
Disease or Syndrome
A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening.
Natal tooth
MedGen UID:
504559
Concept ID:
CN000653
Finding
Erupted tooth or teeth at birth.
Advanced eruption of teeth
MedGen UID:
505902
Concept ID:
CN005482
Finding
`Premature` (PATO:0000694) `tooth eruption` (MeSH:D014078), which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
Abnormality of the gastric mucosa
MedGen UID:
428060
Concept ID:
CN003798
Finding
An abnormality of the `gastric mucous membrane` (FMA:14907).
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A disorder characterized by a decrease in density of hair compared to normal for a given individual at a given age and body location.
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the `nail` (FMA:54326).
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
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.
Skin erosion
MedGen UID:
506560
Concept ID:
CN117782
Finding
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Recent clinical studies

Etiology

Darwich E, Vicente A, Bolling MC, González-Enseñat MA, Cusi V, Fortuny C, Bombí JA, Jonkman MF, Mascaró JM Jr
Eur J Dermatol 2011 Nov-Dec;21(6):966-71. doi: 10.1684/ejd.2011.1497. PMID: 21856558

Diagnosis

Darwich E, Vicente A, Bolling MC, González-Enseñat MA, Cusi V, Fortuny C, Bombí JA, Jonkman MF, Mascaró JM Jr
Eur J Dermatol 2011 Nov-Dec;21(6):966-71. doi: 10.1684/ejd.2011.1497. PMID: 21856558
Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL
Br J Dermatol 2010 Jun;162(6):1388-94. Epub 2010 Mar 10 doi: 10.1111/j.1365-2133.2010.09668.x. [Epub ahead of print] PMID: 20302578

Prognosis

Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL
Br J Dermatol 2010 Jun;162(6):1388-94. Epub 2010 Mar 10 doi: 10.1111/j.1365-2133.2010.09668.x. [Epub ahead of print] PMID: 20302578
McGrath JA, Bolling MC, Jonkman MF
Dermatol Clin 2010 Jan;28(1):131-5. doi: 10.1016/j.det.2009.10.015. PMID: 19945626
Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH
Am J Hum Genet 2005 Oct;77(4):653-60. Epub 2005 Aug 17 doi: 10.1086/496901. [Epub ahead of print] PMID: 16175511Free PMC Article

Clinical prediction guides

Darwich E, Vicente A, Bolling MC, González-Enseñat MA, Cusi V, Fortuny C, Bombí JA, Jonkman MF, Mascaró JM Jr
Eur J Dermatol 2011 Nov-Dec;21(6):966-71. doi: 10.1684/ejd.2011.1497. PMID: 21856558
Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL
Br J Dermatol 2010 Jun;162(6):1388-94. Epub 2010 Mar 10 doi: 10.1111/j.1365-2133.2010.09668.x. [Epub ahead of print] PMID: 20302578
Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH
Am J Hum Genet 2005 Oct;77(4):653-60. Epub 2005 Aug 17 doi: 10.1086/496901. [Epub ahead of print] PMID: 16175511Free PMC Article

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