Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.

[dystrophic epidermolysis bullosa]

Epidermolysis bullosa (EB ) is a group of inherited mechanobullous skin disease . The dystrophic EB (DEB ), one subtype of EB , is inherited in an autosomal dominant DEB or in an autosomal recessive (RDEB ). DEB is caused by mutations in the COL 7 A 1 gene encoding type VII collagen , the major component of anchoring fibrils . Over 300 pathogenic mutations have been detected within COL 7 A in DEB . Patients with the Hallopeau-Siemens type (HS -RDEB ), most severe form of DEB , frequently have premature termination codon (PTC ) mutations on both alleles . PTC mutations on both alleles result in depleted mRNA and α 1 helix , and failure to form the triple helix structure characteristic of type VII collagen . As patients with HS -RDEB usually have a pair of heterozygous PTC mutations , there have been rarely reported homozygous ones in HS -RDEB . We report the first case of HS -RDEB homozygous PTC mutations of 5818 delC in both COL 7 A 1 alleles . This case report suggests the positional effect of PTC mutations and vigilance against early infantile death in EB including HS -RDEB .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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