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\begin{document}

\title{Meatus Acusticus Externus Obstruction due to Tuberous Sclerosis Complex
Angiofibromas: A Case Report}



\author[1]{Akif İşlek}%
\author[2]{Sadullah Şimşek}%
\affil[1]{Affiliation not available}%
\affil[2]{Nusaybin State Hospital}%


\vspace{-1em}



  
  \date{May 23, 2024}


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\selectlanguage{english}
\begin{abstract}
Tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder
characterized by hamartomas in various organs. Auricula and Meatus
Acusticus Externus (MAE) involvement of TSC related angiofibroma is a
rare and specific presentation of the disease. A 31-year-old male
patient with left auricular mass and ear fullness was presented.%
\end{abstract}%



\sloppy


\textbf{Meatus Acusticus Externus Obstruction due to Tuberous Sclerosis
Complex Angiofibromas: A Case Report}

\textbf{Running Title: Auricular Tuberous Sclerosis Angiofibromas}

Akif \selectlanguage{polish}İş\selectlanguage{english}lek\textsuperscript{1*} MD (ID: 0000-0001-7058-3457)

Sadullah \selectlanguage{polish}Ş\selectlanguage{english}im\selectlanguage{polish}ş\selectlanguage{english}ek\textsuperscript{2} MD (ID: 0000-0002-8322-7475)

1: Nusaybin State Hospital, Otolaryngology-Head \& Neck Surgery Clinic,
Mardin, Turkey. 2: Nusaybin State Hospital, Radiology Clinic, Mardin,
Turkey.

\textbf{*Corresponding Author:} Adar Street, 10/A-10, Nusaybin, Mardin /
Turkey, Tel: +90 5079817981, Fax: +90 4824151541, drakifislek@gmail.com.

\textbf{Acknowledgement:} None

\textbf{Conflict of Interests:} The authors declare that they have no
conflict of interest.

\textbf{Funding:} No funding was received for this study.

\textbf{Institutional Review Board:} Provincial Health Directorate of
Mardin

\textbf{Abstract}

Tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder
characterized by hamartomas in various organs. Auricula and Meatus
Acusticus Externus (MAE) involvement of TSC related angiofibroma is a
rare and specific presentation of the disease. A 31-year-old male
patient with left auricular mass and ear fullness was presented.

\textbf{Key Words:} Tuberous sclerosis complex, Facial Angiofibroma,
External auditory canal, Meatoplasty.

\textbf{Key Clinical Message}

Auricular involvement of TSC related angiofibroma is a rare and specific
presentation of the disease and surgical excision may be recommended.

\textbf{Introduction}

Tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder
caused by TSC1 or TSC2 mutations is characterized by hamartomas in
various organs (e.g., skin, brain, lungs, and kidneys) and appears with
an incidence rate of approximately 1 in
5000--10,000.\textsuperscript{1}Angiofibromas are the most frequent skin
lesions occurred in patients with TSC older than 5 years and
characteristically consist of numerous pink to reddish papules or
nodules that are typically located on the cheeks, nose, and
chin.\textsuperscript{2} The traditional and current treatment
modalities for facial angiofibromas include topical sirolimus, topical
rapamycin cryosurgery, curettage, dermabrasion, chemical peeling,
excision, and laser therapies. Treatment options generally vary
according to the clinical presentation of the disease and the location
of the TSC related lesions. Treatments for skin lesions in the face and
head and neck area are usually intended for cosmetical issues, except
for ocular manifestations, and the treatment decision is made according
to the severity of the disease (e.g. Facial Angiofibroma Severity
Index). Auricula and Meatus Acusticus Externus (MAE) involvement in TSC
related angiofibroma a rare and specific pathology due to the aesthetic
and functional feature of the ear.

\textbf{Case Report}

A 31-year-old male patient was admitted to the Ear Nose Throat Clinic in
Semptember 2019 with complaint of left fullnes, discharge and conductive
hearing loss. Symmetrical nodular cutaneous lesions on malar region,
tragus and bilateral meatus acusticus externus were noted first (Figure
1).The patient's history and family history were competible with TSC. On
physical examination, total obstruciton of MAE was detected due to TSC
angiofibroma (Figure 2). The lesions were pushed with a 2 mm
auto-endoscope by passing through the MAE for external auditory canal
(EAC) examination. On EEC examination, there was a slight purulent
secretions and cerumen impaction was detected, the tympanic membrane was
intact. Temporal bone Computed Tomography showed bilaterall soft tissue
thickening of the one-third exteranl part of EAC. The structures of
middle ear cavity and temporal bone were natural. EAC aspiration for
cerumen and discharge was performed weekly. Ciprofloxacin /
dexamethasone local therapy prescirebed for three consequtive week, But
normal self-cleaning EAC has not been achieved for 3 weeks. Upon this,
it was decided to meatoplasty. The surgery was performed under local
anesthesia. Angiofibromas on the MAE and tragus were excised. The defect
was repaired by sliding a 3x2x3 cm fasciocutaneous island flap
inferiorly created in the preauricular area (Figure 3). Self-cleaning
EAC was achieved with an open and MAE. Immunohistochemistry analysis
showed that some tumor cells were positive for CD31, Actin(SM), CD34 and
vimentin, negative expression for smooth muscle actin (SMA), desmin,
S100, and AE1/AE3. Ki-67 proliferation index was less than 5\%. The
pathology specimen was histopathologically diagnosed as angiofibroma.

\textbf{Discussion}

TSC is a multisystemic neurocutaneous tumor syndrome caused by mutation
of tumor suppressor genes causing hamartomas in different organs such as
skin, brain, lungs, and kidneys.\textsuperscript{1} Multiple facial
angiofibromas occur in most of the patients with TSC particularly around
the nose, appearing as firm skin-coloured telangiectatic papules. Also,
oral mucosal and gingival fibrous proliferation is another accompanied
lesions on the head and neck region.\textsuperscript{3} Severe facial
and nasal involvement of the disease can cause nasal breathing and
feeding difficulty in addition to cosmetic problems. Auricular and EAC
skin involvement is an expected but unusual presentation of TSC
syndrome. The main complaints were resistant EAC infection and
conductive hearing loss in the presented case due to obstruction of MAE.

While topical antineoplastic drugs have priority for common and small
lesions on the face, surgical treatment is recommended for more specific
lesions and in a limited area due to the risk of
scar.\textsuperscript{1, 2, 4} Treatments such as dermabrasion, chemical
peeling, cryosurgery, laser surgery are for cosmetic purposes and are
insufficient for serious complications such as bleeding and feeding
problems.\textsuperscript{4, 5} Complete surgical excision of the
lesions is more effective for to solve urgent complications and prevent
recurrence.\textsuperscript{5} Therefore, surgical excision and
reconstruction was considered in the presented case for the treatment of
complications due to EAC obstruction. In this case, remove of the
lesions on the tragus was aimed to cosmetical results and meatoplasty
planned to provide a functional MAE patency. Preauricular
fasciocutaneous island flap was adequate for defect reconstruction. The
result of operation was aesthetically and functionally satisfactory for
the patient and the surgeon.

\textbf{Conclusion}

MAE involvement of TSC is rare and may cause conductive hearing loss and
resistant EAC infections by causing total obstruction. While surgical
excision of these lesions provides a permanent solution, it does not
cause cosmetic problems.

\textbf{Authors' contributions}

Akif \selectlanguage{polish}İş\selectlanguage{english}lek: Design of study, data collection, writing, review of the
references, critical review, and final approved version.

Sadullah \selectlanguage{polish}Ş\selectlanguage{english}im\selectlanguage{polish}ş\selectlanguage{english}ek: Design of study, data collection, writing, review of
the references, critical review, and final approved version.

\textbf{References}

1. Wataya-Kaneda M, Nagai H, Ohno Y, et al. Safety and Efficacy of the
Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term,
Open-Label, Extension, Uncontrolled Clinical Trial.~Dermatol Ther
(Heidelb). 2020;10(4):635-650. doi:10.1007/s13555-020-00387-7.

2. Sadowski K, Kotulska K, Schwartz RA, J\selectlanguage{ngerman}ó\selectlanguage{polish}ź\selectlanguage{english}wiak S. Systemic effects of
treatment with mTOR inhibitors in tuberous sclerosis complex: a
comprehensive review.~J Eur Acad Dermatol Venereol. 2016;30(4):586-594.
doi:10.1111/jdv.13356

3. Kennedy RA, Thavaraj S, Diaz-Cano S. An Overview of Autosomal
Dominant Tumour Syndromes with Prominent Features in the Oral and
Maxillofacial Region.~Head Neck Pathol. 2017;11(3):364-376.
doi:10.1007/s12105-017-0778-1

4. Lujber L, Buri\selectlanguage{ngerman}án A. Giant nasal mass causing feeding difficulty in
tuberous sclerosis.~Otolaryngol Head Neck Surg. 2011;145(3):511-512.
doi:10.1177/0194599811410280.

5. Earnest L, Byrne P, Califano J. Massive facial angiofibroma in a
patient with tuberous sclerosis.~Otolaryngol Head Neck Surg.
2003;128(1):151-153. doi:10.1067/mhn.2003.49

\textbf{Figure 1} Multiple 2-4 mm facial angiofibromas around the nose.

\textbf{Figure 2} Total obstruciton of MAE due to angiofibromas.

\textbf{Figure 3} MAE patency and adapted preauricular fasciocutaneous
island flap.\selectlanguage{english}
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