Hereditary mucoepithelial dysplasia

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Synonyms: Urban-Schosser-Spohn syndrome

A rare genetic immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis keratoconjuctivitis cataracts angular cheilitis fissured tongue and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes vacuolated basal cells lack of epithelial maturation and decreased number of desmosomes.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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