Autosomal dominant junctional epidermolysis bullosa.

[junctional epidermolysis bullosa]

Epidermolysis bullosa (EB ) encompasses a heterogeneous group of inherited skin disorders associated with trauma-induced blistering . The junctional forms of EB (JEB ), Herlitz JEB , non-Herlitz JEB and JEB associated with pyloric atresia have all been attributed to autosomal recessive inheritance . We describe a 7 -year -old girl with defective dental enamel , trauma-induced blistering and subsequent scarring . Her mother , a carrier of the mutation p .G 627 V in the collagen XVII gene (COL 17 A 1 ) had evidence of hypoplastic dental enamel without skin blistering . Her grandmother had non-Herlitz JEB as a result of a compound heterozygous mutation in COL 17 A 1 (p .G 627 V and c .3514 ins 25 ).To explore the molecular , ultrastructural and immunofluorescence findings of the first case of dominant JEB .Mutational analysis of COL 17 A 1 was performed on the proband 's genomic DNA . In addition , transmission electron microscopy and immunofluorescence microscopy were performed on a nonlesional skin biopsy from the proband and an unrelated healthy control .Direct sequencing revealed a heterozygous glycine substitution mutation , p .G 627 V , in COL 17 A 1 . No discernible morphological abnormalities were found on transmission electron microscopy ; however , immunofluorescence microscopy revealed findings of an altered distribution pattern for type XVII collagen epitopes close to the dermal-epidermal junction .T his report describes the first case of dominant JEB . Although some heterozygous mutations in COL 17 A 1 are known to cause dental abnormalities none were associated with skin fragility . The dominant-negative interference between the proband 's mutated type XVII collagen and the wild-type allele appears to render the skin prone to trauma-induced blister formation . Alternatively , other undisclosed modifying genetic or epigenetic factors might explain why the patient gets blistering whereas her mother , who has the same COL 17 A 1 mutation , has no skin fragility .

Diseases
Validation

Diseases presenting "first case" symptom

achondroplasia

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dentin dysplasia

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

esophageal adenocarcinoma

esophageal carcinoma

fabry disease

familial mediterranean fever

focal myositis

gm1 gangliosidosis

harlequin ichthyosis

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

krabbe disease

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

systemic capillary leak syndrome

thoracic outlet syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom