Case Report

Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules

Table 1

Differential diagnoses for multiple facial papules.

Differential diagnoses for multiple facial papulesClinical featuresSignificance

Brooke-Spiegler syndrome [19, 20]Multiple trichoepitheliomas, cylindromas, and spiradenomasParotid basal cell adenomas, adenocarcinomas

Multiple familial trichoepitheliomas [1, 2, 21]Multiple lesions with autosomal dominant inheritanceMalignant transformation to basal cell carcinomas

Familial cylindromatosis [3, 9]Multiple skin tumoursVision difficulties

Cowden’s syndrome [22]Multiple trichilemmomas, fibroepithelial polyps, and macrocephalyIncreased risk of developing malignancies in the breast, thyroid, and endometrium

Birt-Hogg-Dube [23]Fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cystsPulmonary cysts/history of pneumothorax, and various types of renal tumours

Rombo’s syndrome [24]Multiple trichoepitheliomas, milia, and vermiculate atrophyBasal cell carcinoma, peripheral vasodilation, and cyanosis

Bazex-Dupre-Christol syndrome [25, 26]Congenital hypotrichosis, follicular atrophoderma, milia, basal cell carcinomas, and hypohidrosisPresence of a primary malignant neoplasm of the upper aerodigestive tract or metastatic cancer to the lymph nodes of the neck

Muir–Torre syndrome [26, 27]Sebaceous adenomas,
keratoacanthomas
Colonic polyposis, occult laryngeal carcinomas, and gastric carcinomas

Tuberous sclerosis [26]Multiple cutaneous angiofibromas, ash leaf spots, cardiac rhabdomyoma, and cortical tubersPatients suffering from various symptoms, organs affected by tumours, and mentally retarded

Neurofibromatosis-1 [26]Multiple neurofibromas, plexiform neurofibromas, café-au-lait patches, axillary freckling, and Lisch nodulesNeurofibromas may undergo malignant transformation

Gardener syndrome [26]Multiple osteomas, epidermoid cysts, supernumerary teeth, and odontomesHigh-malignant transformation rate for gastrointestinal polyps

MENIIB [26]Multiple mucosal neuromas, phaeochromocytomas, and thyroid malignanciesOral/perioral mucosal neuromas develop prior to malignancies and would help in early diagnosis