Case report and surgical technique—Nasal mass seen in Zimmermann-Laband syndrome

Abstract

Nasal masses are a common finding in the field of otolaryngology, and they may be congenital, inflammatory, neoplastic, or from trauma [1]. Depending on location, they may cause a change in smell, congestion, obstruction, nasal drainage, or epistaxis. Common, benign nasal masses include polyps, dermoid cysts, rhinophyma and others. More serious presentations may include malignancies or underlying genetic conditions.

This case report describes a unique presentation of an 18-year-old with concern for Zimmermann-Laband syndrome (ZLS). ZLS is a rare, autosomal dominant genetic disorder, that is predicted to affect less than 1/1,000,000 of the population. ZLS is generally characterised by gingival hypertrophy, hypoplastic/aplastic nails, joint hyperextensibility, hirsutism/hypertrichosis, and craniofacial abnormalities, especially of the nose or ears [2]. Within the literature, a wide variety of symptoms are described, with presentation onset between birth and childhood [3]. Due to its ambiguous presentation, timely diagnosis may be difficult. Dentists and oral surgeons may play a significant role in identifying early presentations of ZLS, but genetic consultation is crucial. Underlying genetic mutations in KCNH1, KCNN3, and ATP6V1B2 have been described, however these is a great deal of variability in involved gene mutations [3].

Treatment for ZLS includes managing abnormal gingival or craniofacial growths through surgical intervention, as well as lifelong medical management of symptoms and disease progression. Gingival hypertrophy, in particular, requires intensive orthodontic and surgical management, often requiring multiple procedures [4]. No studies in the current literature describes surgical management of a bulbous nose, or rhinophyma, characterised in multiple case reports of ZLS [5].

We describe an 18-year-old male who presented to clinic for evaluation of enlarging nasal growths over two years. They originated as small, scattered pustules with occasional purulent discharge. He also experienced nasal congestion. Since birth, he has had increased facial and body hair growth. Since 9 months old, he has undergone six orthodontic surgeries for gingival hyperplasia. He has no history of asthma, trauma to the face, or prior otolaryngologic surgery. On physical exam, hyperextensibility of joints were noted, with no evidence of hypoplastic/aplastic nails. Soft, compressible, nontender, fibromatous growths and sebaceous hyperplasia overlying the nasal tip, dorsum, and ala were noted (Figure 1). He also had gingival and tonsillar hypertrophy as well as significant hypertrichosis of the face, hands, and feet.

Given his physical exam findings concerning for ZLS, he underwent genetic testing for the KCNH1, KCNN3, and ATP6V1B2 genes. Results were negative for any pathogenic mutations. Our patient also underwent in-office biopsy of the cutaneous nose, which showed cicatricial fibrosis and chronic inflammation consistent with scar. Surgery was recommended to reduce nasal growth, and the patient was agreeable to proceed with surgery.

The patient underwent general anaesthesia, and the nose was injected with 1% lido with epi/0.25% Marcaine mixture. The area was prepped and draped, and the nasal tip, ala, nasal dorsum and sidewalls were marked for excision.

A 10-blade scalpel was used to shave down the rhinophyma and specimens were sent to pathology according to their marked locations. A #6 cutting drill with irrigation was then used to plane down the boundaries of the excision to create a smooth contour. A needle tip bovie was used for haemostasis. The wound was then dressed in bacitracin and telfa. The patient overall tolerated the procedure well and debridement of the nose was successful in reduction of bulk (Figure 2).

The patient was followed in clinic post-operatively without complications (Figure 3). The wound remained clean, dry, and intact without evidence of infection. 40 mg/mL kenalog injections were used for keloid areas appearing hypertrophic and healing.

Intraoperative biopsy from pathology had a final diagnosis of sclerotic dermis with increased sebaceous glands, mixed acute and chronic inflammation and folliculitis, consistent with rhinophyma.

Zimmermann-Laband syndrome is a rare disorder with manifestations such as bulbous nose, gingival fibromatosis, hypertrichosis, and other symptoms [5]. This case presents a young patient with many of these pathognomonic characteristics, however our patient is unique as his genetic work-up and testing for the KCNH1, KCNN3, and ATP6V1B2 genes was negative. Despite negative genetic markers, it is likely that the patient's presentation is a variant of ZLS given his physical presentation. There are additional studies in the current literature which highlight multiple patients with phenotypic presentation indicative of ZLS in the absence of positive confirmatory genetic testing [6]. This could be related to genes encoding ZLS on a separate portion of the genome previously uncharacterised [6].

In an 18-year-old male, it is unusual for a patient with ZLS to have such a large rhinophyma, however certain nasal abnormalities have been characterised in the current literature. Most patients with ZLS present with saddle nose, wide nasal ridge, and bilateral nodules around the nasal alae [2]. It is unique for a patient with ZLS to present with such a large bulbous nose and purulent discharge. Ultimately, the patient underwent successful surgery decreasing the bulk of the rhinophyma and the aesthetic appearance of the nose. It is important that despite negative genetic workup, clinicians should still consider ZLS as a possible diagnosis in patients who phenotypically meet characteristics, such as those seen in our patient.

Grant Gochman: Conceptualization (equal); methodology (equal); project administration (equal); writing—original draft (equal); writing—review and editing (equal). Danae Alexandrou: Conceptualization (equal); data curation (equal); formal analysis (equal); methodology (equal); writing—original draft (equal); writing—review and editing (equal). Amy Pittman: Conceptualization (equal); methodology (equal); project administration (equal); supervision (lead); visualization (equal); writing—original draft (equal); writing—review and editing (equal).

The authors declare no conflicts of interest.

Institutional review board approval was not required as this manuscript describes a single retrospective case report anonymously and does not meet the Federal Policy for the Protection of Human Subjects criteria or involves human procedures.

Written consent for publication and patient photography was obtained from the patient's mother.