INTRODUCTION: Cicatricial pemphigoid also called mucus membrane pemphigoid (MMP), is a rare entity that can involve different many organs. However, it is very unlikely to occur in the lower airways. Desquamation of the mucosa is not characteristic of MMP. We report the first case of desquamative MMP in the lower airways.
CASE PRESENTATION: A 34-year-old man with no significant medical history, presented with sore throat, hoarseness, weight loss and conjunctival injection. He had already been treated for chronic conjunctivitis with no response. Patient was referred to otolaryngology clinic where fiberoptic evaluation showed narrowing of the supraglottis and glottis, mucosal edema and ulceration. The autoimmune work-up was negative (ANA, sedimention rate, complement, ACE levels) as well as the hepatitis panel, HIV, and tuberculin skin test. Different diagnosis were entertained for the next four years, including MAGIC syndrome (mouth and genital ulcers with inflamed cartilage), Behcet’s disease, and polychondritis, for which he received oral steroids and cytoxan with no significant response. The airway stenosis worsened and the patient underwent a tracheostomy and epiglottectomy. The trachea and main stem bronchi were also involved.The final diagnosis of cicatricial penphigoid was established by a skin biopsy that showed positive direct immunoflorescence (DIF) with IgG and C3 at the basement membrane zone. He was then started on intravenous immune globulin (IVIG) with a significant initial improvement; however the stenosis of the main bronchi worsened and patient required multiple treatments with mechanical balloon dilatation and laser ablation. Further bronchoscopies showed progressive friable mucosa with sloughing airway and desquamation of the mucosa wall, requiring mechanical debulking.
DISCUSSIONS: MMP is a disease mediated by autoantibodies that induce disruption of the basement membrane zone and it is rarely related with skin disease. Although oropharyngeal involvement predominates, other mucous membranes can be involved, including the conjunctivae, esophagus, nasopharynx, genitalia, and rectal mucosa. The diagnosis of MMP is difficult and requires skin biopsy with DIF (IgG and C3), anti-epiligrin (associated with malignancy) and ELISA for BP180-NC16A. The real incidence in the US is unknown, with an approximately 1:10 million, with predominance of females, and late presentation (50 to 60 year old), but only few a cases have been reported in the literature. There have been no previous reports of a MMP affecting the trachea and lower airways with scarring and desquamative characteristic at the same time. Most describe only involvement of the supraglottic area associated with stenosis and oral ulcers and desquamative gingivitis producing hoarseness and airway obstruction. In this case the patient presented with the classic features of MMP but with important variations that lead to a late diagnosis: the age of presentation, progression of disease despite treatment, and, unique desquamative and sloughing characteristics of the tracheal and main stem airway mucosa.
CONCLUSION: Airway involvement of MMP is a rare but life-threatening disease that requires a prompt diagnosis and treatment, as well as a multidisciplinary approach, including ENT, rheumatology, dermatology and pulmonology. Unfortunately there are no current guidelines for the treatment, and decisions have to be made based on expert opinions. Due to its rarity the physician should be able to identify the disease even in the presence of variations on presentation, as occurred in our case.
DISCLOSURE: Eduardo Celis Valdiviezo, No Financial Disclosure Information; No Product/Research Disclosure Information