ABSTRACT
A 29-year-old man presented with a long-standing history of asymptomatic, skin-colored, facial papules and nodules. Histopathologic examination of a representative papule demonstrated trichoepithelioma. The patient had a history of a brother with a similar phenotype, which suggests a diagnosis of familial trichoepithelioma. Linkage and mutational analyses support genetic heterogeneity of familial trichoepithelioma, possibly sharing a clinical spectrum with Brooke-Spiegler syndrome and familial cylindromatosis since each entity has been associated with mutations the CYLD gene.
Subject(s)
Facial Neoplasms/diagnosis , Neoplasms, Basal Cell/diagnosis , Neoplasms, Multiple Primary/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Skin Neoplasms/diagnosis , Adult , Carcinoma, Adenoid Cystic/genetics , Deubiquitinating Enzyme CYLD , Facial Neoplasms/genetics , Facial Neoplasms/pathology , Genes, Tumor Suppressor , Genetic Heterogeneity , Humans , Male , Neoplasms, Basal Cell/genetics , Neoplasms, Basal Cell/pathology , Neoplasms, Multiple Primary/genetics , Neoplasms, Multiple Primary/pathology , Neoplastic Syndromes, Hereditary/genetics , Neoplastic Syndromes, Hereditary/pathology , Phenotype , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Tumor Suppressor Proteins/genetics , Tumor Suppressor Proteins/physiologyABSTRACT
A 49-year-old woman presented with a seven-year history of pruritic, erythematous, scaling plaques on sun-exposed skin that localized only to pre-existing depigmented patches. Histopathologic examination showed changes consistent with cutaneous lupus erythematosus with lichenoid features and confirmed contiguous vitiligo. Diagnosis of chronic cutaneous lupus erythematosus localized to areas of vitiligo was determined by clinicopathologic correlation and may reflect an autoimmune diathesis. Consequently, hydroxychloroquine and topical glucocorticoids therapy were initiated with reported improvement in pruritus, erythema, and scale. Clinical monitoring for development of squamous-cell carcinoma in areas of chronic inflammation and sun-exposure is imperative.