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Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma(EBS2A)

MedGen UID:
864672
Concept ID:
C4016235
Disease or Syndrome
Synonym: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
 
OMIM®: 148040; 619555

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Oral mucosal blisters
MedGen UID:
208888
Concept ID:
C0853945
Sign or Symptom
Blisters arising in the mouth.
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.
Stratum basale cleavage
MedGen UID:
411295
Concept ID:
C2748755
Finding
Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.
Palmoplantar blistering
MedGen UID:
870430
Concept ID:
C4024876
Finding
A type of blistering that affects the skin of the palms of the hands and the soles of the feet.
Intra-epidermal blistering
MedGen UID:
1779880
Concept ID:
C5539821
Finding
A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.
Tonofilament clumping
MedGen UID:
1810356
Concept ID:
C5676664
Finding
Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.

Recent clinical studies

Etiology

Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW
Pediatr Dermatol 2019 Jan;36(1):132-138. Epub 2018 Dec 4 doi: 10.1111/pde.13722. PMID: 30515866
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791

Diagnosis

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R
Eur J Dermatol 2006 Sep-Oct;16(5):507-10. PMID: 17101470
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681

Prognosis

Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW
Pediatr Dermatol 2019 Jan;36(1):132-138. Epub 2018 Dec 4 doi: 10.1111/pde.13722. PMID: 30515866
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA
J Invest Dermatol 1998 Nov;111(5):893-5. doi: 10.1046/j.1523-1747.1998.00388.x. PMID: 9804355
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681

Clinical prediction guides

Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW
Pediatr Dermatol 2019 Jan;36(1):132-138. Epub 2018 Dec 4 doi: 10.1111/pde.13722. PMID: 30515866
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839
Livingston RJ, Sybert VP, Smith LT, Dale BA, Presland RB, Stephens K
J Invest Dermatol 2001 Jun;116(6):970-4. doi: 10.1046/j.1523-1747.2001.01324.x. PMID: 11407989
Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA
J Invest Dermatol 1998 Nov;111(5):893-5. doi: 10.1046/j.1523-1747.1998.00388.x. PMID: 9804355

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