Scrotal elephantiasis associated with follicular occlusion triad

Abstract

Rationale: Follicular occlusion triad (FOT) is an autosomal recessive inherited disease and no more than 3 variants of the triad have been reported. We give a report in which scrotal elephantiasis is a variant of FOT and further perform a literature review. Patient concerns: A 41-year-old man came to us because of a large scrotal cyst and generalized skin lesions that had occurred over the past 10 years. The generalized skin lesions consisted of hidradenitis suppurativa on the perineum and back, acne conglobata in the armpit, and dissecting cellulitis of the scalp. He took antibiotics for a long time but achieved poor effect. Furthermore, he told his father and elder brother also manifested such skin lesions. Diagnoses: Magnetic resonance showed a mass in the left scrotum with clear boundaries. A routine blood test showed a high leukocyte level of 12 × 10 9 /L and a hemoglobin content of 78 g/L. C-reactive-protein increased. Series of autoimmune antibody tests were negative. The postoperative pathologic findings showed that the mass was an epidermoid cyst, and hematoxylin and eosin staining showed hyperkeratosis of the skin as well as inflammatory and edematous changes. A diagnosis of a variant of FOT was made. Interventions: We removed skin abscesses and lesioned the inner part with hydrogen peroxide. Then we performed an excision of the scrotal lesion. Outcome: The patient recovered well and had no evidence of recurrence at a 16-month follow-up. Lessons: We reported a case in which scrotal elephantiasis was a variant of FOT and surgical intervention played an important role in secondary urologic diseases.

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

“…KRT17 gene mutations showed association with pachyonychia congenita type II, 68,69 while Gap junction beta-2 protein (GJB2) gene mutations connected FO disorders to keratitis-ichthyosisdeafness (KID). [70][71][72] Articles [68][69][70][71][72][73][74][75][76][77][78][79][80][81][82][83][84][85] highlighted male predominance (90%), primarily typical HS localisations (axilla, anogenital/genitocrural, inframammary), with no specific patterns in lesion forms, although nodules (45%), draining sinuses (40%) and cysts (35%) were most commonly encountered. DCS involved cicatricial alopecia, pustules, nodules, cysts, sinuses and ulcers.…”