Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.

INTRODUCTION: Epidermolysis bullosa (EB) is a congenital disease characterized by fragility of epithelial structures. The skin is the organ primarily affected, resulting in the formation of skin blisters. Some forms of EB may also present mucosal lesions. CASE REPORT: We report the case of a girl with epidermolysis bullosa simplex (EBS) associated with muscular dystrophy secondary to congenital plectin deficiency. She presented severe respiratory tract lesions extending from the oral cavity to the larynx. In particular, we describe our medical and surgical management of the laryngeal lesions, responsible for several episodes of respiratory distress and feeding difficulties. DISCUSSION: Epidermolysis bullosa simplex associated with muscular dystrophy is a rare hereditary form of EB, as fewer than 50 cases have been reported in the literature. This form is characterized by mucosal lesions involving the upper aerodigestive tract, with consequences for feeding, phonation and breathing. Special care must be taken when performing diagnostic and therapeutic procedures to avoid worsening the lesions of this very fragile mucosa. Tracheotomy is a harmful procedure in these patients and should only be considered as a last resort.

[Pyoderma gangrenosum with lung involvement treated with infliximab]. / Pyoderma gangrenosum avec localisations pulmonaires traité par infliximab.

BACKGROUND: Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis often associated with systemic diseases, particularly chronic inflammatory bowel diseases. Extracutaneous manifestations (articular, ocular, renal, pulmonary, hepatosplenic, muscular) exist, with lung involvement being the most common. PATIENT AND METHODS: We report a case of PG with skin and lung involvements in a patient treated with high-dose corticosteroids in a setting of severe ulcerative colitis (UC). Lung involvement was diagnosed during the pretreatment assessment performed prior to initiation of anti-TNFα therapy. Infliximab resulted in rapid improvement of the lung and skin lesions. DISCUSSION: In the event of simultaneous cutaneous PG lesions and lung lesions suggestive of abscess, visceral involvement should be suspected. First-line treatment consists of oral corticosteroids. In our patient, the occurrence of lesions under corticosteroids in UC militated in favour of anti-TNFα therapy, which proved effective.

[Atypical presentation of giant cell fibroblastoma]. / Fibroblastome à cellules géantes de présentation atypique.

BACKGROUND: Giant cell fibroblastoma is a specific entity that belongs to the dermatofibrosarcoma protuberans spectrum. We report an original case with an atypical clinical presentation. CASE REPORT: A four-year-old male child presented with a perineoscrotal mass, present since the age of one year. This lesion was initially a bluish perineal macule that grew rapidly after a traumatic injury. Physical examination showed a large flaccid bi-lobed tumour originating from the posterior border of the left of the scrotum to the anal margin. A haemolymphangioma was clinically suspected and the results of ultrasound and MRI were consistent with this diagnosis. Because of the discomfort and the atypical clinical presentation, local surgical resection was performed. Histological examination did not confirm the clinical assumption but revealed a giant cell fibroblastoma. Because of the location of this tumour, a secondary surgical procedure was carried out using the "Slow-Mohs" technique. DISCUSSION: This case is particularly interesting because of the clinical pseudo-angiomatous presentation of this tumour. Use of the "Slow-Mohs" technique allowed sparing of tissue. No recurrence was noted after 3 years of follow-up.

Secondary syphilis occurring under anti-TNFalpha therapy.

Anti-TNF agents are remarkably effective in the treatment of chronic inflammatory rheumatism diseases. Main side effect of anti-TNF is an increased risk of infection. We report the observation of a secondary syphilis occurring under anti-TNFalpha therapy.