Recessive dystrophic epidermolysis bullosa

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Recessive dystrophic epidermolysis bullosa
Classification and external resources
OMIM 226600
DiseasesDB 31929

Recessive dystrophic epidermolysis bullosa (also known as "Hallopeau–Siemens variant of epidermolysis bullosa"[1] and "Hallopeau–Siemens disease"[2]) is a skin condition resulting from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.[1]:601[3]:558-9

It is named for François Henri Hallopeau and Hermann Werner Siemens.

[edit] See also

[edit] References

  1. ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 458. ISBN 1-4160-2999-0. 
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.

[edit] External links

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)
Genodermatosis
Ungrouped
EB
and related
Other
Other
Developmental
anomalies
Midline
Other/ungrouped

Aplasia cutis congenita · Amniotic band syndrome · Branchial cyst · Cavernous venous malformation

Accessory nail of the fifth toe · Bronchogenic cyst · Congenital cartilaginous rest of the neck · Congenital hypertrophy of the lateral fold of the hallux · Congenital lip pit · Congenital malformations of the dermatoglyphs · Congenital preauricular fistula · Congenital smooth muscle hamartoma · Cystic lymphatic malformation · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Poland anomaly · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Skin dimple · Superficial lymphatic malformation · Thyroglossal duct cyst · Verrucous vascular malformation · Birthmark

M: INT, SF, LCT

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)
Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
Collagen disease

COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)

COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers–Danlos syndrome, types 1 & 2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn

COL8: Fuchs' dystrophy 1

COL9: Multiple epiphyseal dysplasia 2, 3, 6

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Laminin
Other
see also fibrous proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk


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