Epidermolysis bullosa simplex with anodontia/hypodontia

Orpha code: 2325OMIM code:

Definition

A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.

Disease data
Classification

Malformation syndrome

Synonyms
EBS with anodontia/hypodontia
Zespół Gamborga i Nielsena
Zespół Kallina
Kallin syndrome
ORPHA code
2325
OMIM code
-
ICD10 code
Q81.0
ICD11 code
-

No additional description.

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