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[Junctional epidermolysis bullosa non-Herlitz with urethral affection]. 2003

Kristina Zappel, and Lena Bruckner-Tuderman, and Dominik Müller, and Heike Audring, and Gerd Kolde, and Wolfgang Biewald, and Ulrike Blume-Peytavi
Klinik für Dermatologie und Allergologie, Universitätsklinikum Charité der Humboldt-Universität zu Berlin.

Epidermolysis bullosa (EB), a hereditary, blistering form of dermatosis, can be divided into the following three main groups: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). The previously known form of generalized atrophic benign epidermolysis bullosa (GABEB) is classified as junctional epidermolysis bullosa non-Herlitz (JEB-nH) today. An 11-year-old boy with junctional epidermolysis bullosa non-Herlitz with urethal involvement had a complicated course with bladder obstruction and secondary renal insufficiency. According to currently available literature, this is the earliest case known of JEB-nH with involvement of the urinary tract in childhood. Taking into account the complicated course in this young patient, it must be emphasized that in cases of epidermolysis bullosa hereditaria, uncommon affections occurring in infancy should be given careful attention, as such types of associated manifestations are mainly responsible for the lethality in this disease.

UI MeSH Term Description Entries
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014522 Urethral Diseases Pathological processes involving the URETHRA. Disease, Urethral,Diseases, Urethral,Urethral Disease
D016109 Epidermolysis Bullosa, Junctional Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. Epidermolysis Bullosa Letalis,Herlitz Disease,Junctional Epidermolysis Bullosa,Lethal Junctional Epidermolysis Bullosa,Epidermolysis Bullosa Junctionalis, Disentis Type,Epidermolysis Bullosa Junctionalis, Herlitz Type,Epidermolysis Bullosa Junctionalis, Progressive,Epidermolysis Bullosa Junctionalis, Severe Nonlethal,Epidermolysis Bullosa Progressiva,Epidermolysis Bullosa, Generalized Atrophic Benign,Epidermolysis Bullosa, Junctional, Herlitz Type,Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type,Herlitz's Disease,Herlitz-Pearson Type Epidermolysis Bullosa,Herlitz-Pearson-Type Epidermolysis Bullosa,Bullosa Letali, Epidermolysis,Bullosa Letalis, Epidermolysis,Bullosa, Herlitz-Pearson-Type Epidermolysis,Disease, Herlitz,Disease, Herlitz's,Epidermolysis Bullosa Letali,Epidermolysis Bullosa, Herlitz-Pearson-Type,Herlitz Pearson Type Epidermolysis Bullosa,Herlitzs Disease,Letali, Epidermolysis Bullosa,Letalis, Epidermolysis Bullosa
D019964 Mood Disorders Those disorders that have a disturbance in mood as their predominant feature. Affective Disorders,Affective Disorder,Disorder, Affective,Disorder, Mood,Disorders, Affective,Disorders, Mood,Mood Disorder

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