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Abnormal dermoepidermal hemidesmosome morphology

MedGen UID:
1686623
Concept ID:
C5139350
Finding
HPO: HP:0032449

Definition

An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal dermoepidermal hemidesmosome morphology

Conditions with this feature

Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
MedGen UID:
811576
Concept ID:
C3715082
Disease or Syndrome
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.
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
MedGen UID:
815800
Concept ID:
C3809470
Disease or Syndrome
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.

Recent clinical studies

Etiology

Varki R, Sadowski S, Pfendner E, Uitto J
J Med Genet 2006 Aug;43(8):641-52. Epub 2006 Feb 10 doi: 10.1136/jmg.2005.039685. PMID: 16473856Free PMC Article
Swensson O, Christophers E
Arch Dermatol 1998 Feb;134(2):199-203. doi: 10.1001/archderm.134.2.199. PMID: 9487212
Niessen CM, van der Raaij-Helmer MH, Hulsman EH, van der Neut R, Jonkman MF, Sonnenberg A
J Cell Sci 1996 Jul;109 ( Pt 7):1695-706. doi: 10.1242/jcs.109.7.1695. PMID: 8832392
Fine JD, Holbrook KA, Elias S, Anton-Lamprecht I, Rauskolb R
Prenat Diagn 1990 Apr;10(4):219-29. doi: 10.1002/pd.1970100403. PMID: 2195497

Diagnosis

Varki R, Sadowski S, Pfendner E, Uitto J
J Med Genet 2006 Aug;43(8):641-52. Epub 2006 Feb 10 doi: 10.1136/jmg.2005.039685. PMID: 16473856Free PMC Article
Swensson O, Christophers E
Arch Dermatol 1998 Feb;134(2):199-203. doi: 10.1001/archderm.134.2.199. PMID: 9487212
Phillips RJ, Aplin JD, Lake BD
Histopathology 1994 Jun;24(6):571-6. doi: 10.1111/j.1365-2559.1994.tb00578.x. PMID: 8063286
Smith LT
Arch Dermatol 1993 Dec;129(12):1578-84. PMID: 7504435
Fine JD
Arch Dermatol 1990 Sep;126(9):1187-90. PMID: 2396835

Therapy

Bourgault I, Prost C, André C, Villada G, Wechsler J, Chosidow O, Revuz J
Arch Dermatol 1991 Sep;127(9):1369-74. PMID: 1892406

Prognosis

Varki R, Sadowski S, Pfendner E, Uitto J
J Med Genet 2006 Aug;43(8):641-52. Epub 2006 Feb 10 doi: 10.1136/jmg.2005.039685. PMID: 16473856Free PMC Article

Clinical prediction guides

Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Pohla-Gubo G, Lanschuetzer CM, Laimer M, Hintner H, Bauer JW
Lab Invest 2004 Oct;84(10):1279-88. doi: 10.1038/labinvest.3700164. PMID: 15311214
Swensson O, Christophers E
Arch Dermatol 1998 Feb;134(2):199-203. doi: 10.1001/archderm.134.2.199. PMID: 9487212
Niessen CM, van der Raaij-Helmer MH, Hulsman EH, van der Neut R, Jonkman MF, Sonnenberg A
J Cell Sci 1996 Jul;109 ( Pt 7):1695-706. doi: 10.1242/jcs.109.7.1695. PMID: 8832392
Smith LT
Arch Dermatol 1993 Dec;129(12):1578-84. PMID: 7504435
Bourgault I, Prost C, André C, Villada G, Wechsler J, Chosidow O, Revuz J
Arch Dermatol 1991 Sep;127(9):1369-74. PMID: 1892406

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