Hereditary mucoepithelial dysplasia
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Hereditary mucoepithelial dysplasia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.