iprs000053 10.3205/iprs000053 urn:nbn:de:0183-iprs0000537 Case Report Diagnose und Behandlung eines Rhinophyms bei Tuberöse-Sklerose-Komplex Friedrich Friedrich Reinhard E. RE Prof. Dr. med. Dr. med. dent. FEBOMFS

Department of Oral and Cranio-Maxillo-Facial Surgery, Eppendorf University Hospital, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany, Phone: +49-40741053259Department of Oral and Cranio-Maxillo-Facial Surgery, Eppendorf University Hospital, University of Hamburg, Germany

friedrich.mkg@hotmail.de author Hagel Hagel Christian C

Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Germany

author German Medical Science GMS Publishing House

Düsseldorf

610 tuberous sclerosis rhinophyma angiofibroma adenoma sebaceum rhinophyma surgery rhinophyma surgical disfigurement electrosurgery phacomatosis 20141127 engl 2193-8091 3 GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW GMS Interdiscip Plast Reconstr Surg DGPW 12 Die tuberöse Sklerose oder Tuberöse-Sklerose-Komplex (TSK) ist eine autosomal dominante Erbkrankheit, die durch die Trias Epilepsie, Hamartome (Angiofibrome) und häufige Minderbegabung gekennzeichnet ist. Der Phänotyp kann stark variieren. Die fazialen Angiofibrome können entstellendes Ausmaß erreichen und neben der Wangenhaut und perioralen Regionen auch die Haut der äußeren Nase infiltrieren und diese knotig umbauen. Die chirurgische Hilfe besteht in der Ablation der aufgeworfenen, knotig-pustolösen Haut. Berichte über die chirurgische Konturierung der Nase bei TSK bestätigen den homogenen Umbau der Nasenhaut durch Angiofibrome. Lediglich ein Bericht beschreibt die typischen epithelialen Veränderungen vergrößerter Talgdrüsen mit Ausbildung eines Rhinophyms assoziiert mit einem Fall von TSK. Dieser eigene Bericht beschreibt die erfolgreiche elektrochirurgische Behandlung einer extrem vergrößerten und verformten Nase mit der Koinzidenz von Rhinophym und Angiofibrom bei TSK. Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably. Almost all patients with TSC have at least one characteristic dermatologic feature. Facial angiofibroma can cause severe disfigurement. It may involve the cheeks, perioral region and nose, resulting in thick layers of nodular and pustular skin. Aesthetic surgery of the face comprises an individually adapted ablation of the affected skin regions in order to improve physical appearance. Reports on the subject of surgery for nasal angiofibroma confirm the homogenous transformation of the connective tissues by this hamartoma. Hitherto there is only one report in the literature describing the typical epithelial alterations of the nasal skin compatible with a rhinophyma and adjacent angiofibroma. Here we report the successful electrosurgical treatment of a patient with TSC and extensive sebaceous glands giving rise to a rhinophyma in close association with angiofibroma. IntroductionTuberous sclerosis or tuberous sclerosis complex (TSC) is a rare inherited genetic disorder affecting many organs, predominantly the skin, brain, heart, lungs and kidney , , , , . The disease is transmitted in an autosomal dominant fashion and the phenotype may vary widely, with mildly affected patients noticeable through butterfly-like erythema on the one end and oligophrenic and totally incapacitated individuals on the other end of the disease spectrum . Central nervous system manifestations are a common source of morbidity, e.g. infantile spasms , seizures, intellectual disability, and neoplasms (giant-cell astrocytoma) , . Epilepsy is very frequently, though not invariably, diagnosed in TSC affected individuals , . Common causes of mortality are pulmonary lymphangioleiomyomatosis, kidney angiomyolipomas, and cardiac rhabdomyoma , , . Almost all patients with TSC have at least one characteristic dermatologic feature . Facial angiofibroma (adenoma sebaceum) is the best known skin alteration in TSC . TSC belongs to the group of phacomatoses and these diseases are conspicuous due to their alterations of the integument that should alert the clinician to look for other signs and symptoms of these multisystem diseases . Interdisciplinary diagnosis and treatment is required in TSC .Facial angiofibroma can cause severe facial disfigurement . The lesions usually arise bilaterally in the cheek region but may also involve the perioral region and even the nose, producing thick layers of nodular and pustular skin , . Debulking procedures with different tools to ablate the skin are the measures applied in facial aesthetic surgery to improve physical appearance , , , , . Reports on the subject of surgery for angiofibroma confirm the homogenous transformation of the connective tissues by this hamartoma . Only one earlier report describes the typical epithelial alterations of the nasal skin compatible with a rhinophyma and adjacent angiofibromas . This new report describes the surgical treatment of a patient with TSC and extensive sebaceous glands giving rise to a rhinophyma in close association with angiofibroma. Case presentationThe 23-year-old male was referred from the medical consultant of a special-care home, where the patient lived a supervised life. The patient had manifested convulsive seizures since early childhood and had developed wide-spread angiofibroma throughout his face. The patient was in excellent general health conditions, intellectually disabled and presented himself as an open-hearted and physically active individual who asked for medical help to reduce his steadily growing nose. The caregiving assistant reported the nose to be prominent ever since he got to know him. However, the remarkable growth of the nose had become apparent about one year ago. He also reported that the patient immigrated with his parents to Germany several years ago. In Russia, a skin excision had been performed on the right forehead region and covered with a skin graft about 10 years ago, probably to reduce the extensive angiofibroma. He was on medication with carbamazepin (Timonil™ 600-0-600 mg/d), risperidon (Risperdal™, 2-0-1 mg), pipamperon (Dipiperon™ 40 mg, 1-1-1-2), and phenobarbital (Luminal™ 0-0-1). Medical reports detailed an internal carotid aneurysm.The erythemateous facial skin (forehead, cheek, nose, chin) was covered with groups of papules and nodules that discharged smear upon pressure (Figure 1A and B ).In view of the general condition of the patient, in particular notice of emotional fluctuations, and the extensive facial hamartoma we decided to perform surgery in general endotracheal anesthesia.SurgeryThe rhinophyma was removed in layers using an electrosurgical needle (Figure 1C ). Incision of the soft tissues exposed giant sebaceous glands at the tip of the nose and both broad alae. The bleeding from the wound bed was sporadic. After reduction of the nasal contour the elevated angiofibrotic surface of the cheek of the left side was ablated in the same way. Wound surface was covered with a white soft paraffin impregnated tulle (Oleo-Tüll™, Sanofi-Aventis, Frankfurt, Germany) additionally covered with antibiotic ointment. Uneventful healing was achieved by secondary intention (Figure 1D and E ).In addition, a hyperplastic region of the frontal skin graft was excised, primarily closed and the excised specimen was prepared for histological investigation. Six years later, the patient returned for further ablation of cheek angiofibromas. On this occasion, the stable contouring of the nose was documented (Figure 1F and G ).HistologyThe specimen from all three nasal sites, i.e. the nasal tip and alae, showed epidermis with large sebaceous glands and prominent epidermal invaginations, in part containing retained keratin. Lymphocytes, granulocytes and a few plasma cells were located around follicles and even more around vessels. Enlarged capillaries compatible with angiofibroma predominated in the subepidermal layers (Figure 2 ). All findings were compatible with diagnosis of rhinophyma. Sparse MIB-1 immunoreactivity was restricted to round cell infiltrates and S-100 positive cells were identified in small clusters of inflammatory cells. The specimen from the nasolabial fold region showed perifollicular and perivascular round cell infiltrates. The skin graft excision appeared to be hyperplastic scar tissue with chronic inflammatory invasion upon microscopic investigation but without evidence for local recurrence of angiofibroma. DiscussionThis case report describes the successful reduction of a rhinophyma in a patient affected by TSC. Disfigurement of the nose due to proliferation of angiofibroma in TSC patients was repeatedly reported , , , . However, following the case report of Bernstein in 1978 this is likely to be the second description of a rhinophyma in conjunction with an angiofibroma (adenoma sebaceum). Lasting improvement of the appearance was achieved by an electrosurgical debulking of the severely deformed nose. TSCTSC is an autosomal dominant inherited disease. The most prevalent findings are malformation and neoplasia of the brain, alterations of the skin and usually benign tumours developing in other organs. Clinical dominant findings are epileptic seizures and cognitive disabilities. Public awareness is meager about genetic syndromes with prominent skin alterations and multi-organ involvement, including a predisposition for cancer . These rare diseases often have incomplete penetrance and variable expressivity. Prevalence of TSC is about 1:8,000. In about 30% of TSC patients one of the parents is also affected by the disease. TSC is also known as Bourneville-Brissaud-Pringle syndrome, named after the individuals who originally described the entity , . The alternative denotation ‘TSC’ avoids the eponyms but puts emphasis on the complex of different signs and symptoms occurring in the affected individual. TSC is a multisystemic neurocutaneous syndrome caused by mutation of tumor suppressor genes, TSC1 and TSC2 (TSC1 on chromosome 9q34 (hamartin) and TSC2 on chromosome 16p13.3 (tuberin) .Angiofibroma and other skin alterationsHamartomas in various organs are the hallmark of the disease. Faciocutaneous manifestations of hamartomas are diverse and appear to be frequently neglected in clinical practice . They occur in more than 90% of TSC patients . Sebaceous adenoma is declared a misnomer that should be replaced by the term ‘angiofibroma’ to correctly address the characteristic maculo-papular lesions, consisting of dense fibrous tissues and abnormal vessels . However, the term ‘adenoma sebaceum’ is a still in use , , . The eye-catching skin disease is not related to the sebaceous glands, but is recognized as a benign tumour with both angiomatous and fibrous components. Alterations in contiguous sebaceous glands and other adnexal organs are solely secondary phenomena . However, facial angiofibroma can gain such a huge size that functional barriers occur (ingestion) and the physical appearance of the angiofibroma simulates a rhinophyma . On the other hand, in the present case, the hyperproliferation of the sebaceous glands dominated in the deformed nose, giving rise to diagnose a ‘rhinophyma’. This side by side of huge sebaceous glands and angiofibroma was previously reported by Bernstein and this observation may have contributed to use further on the outdated term ‘adenoma sebaceum’.The angiofibroma usually manifests in the first decade of life, but may already be present at birth . Growth spurts are frequently observed at the end of puberty . However, facial angiofibroma may develop throughout life , . Patients older than 20 years of age appear to experience less recurrence of angiofibroma after surgical treatment than younger individuals. Facial angiofibroma in syndromal diseases are not restricted to TSC . Other skin marks in TSC are shagreen patches in the lumbo-sacral region, oval hypomelanotic lesions of ash-leaf outline, café-au-lait spots and periungal fibromas . The excised facial scar tissue showed no similarities to a fibroma .SurgerySeveral surgical techniques for ablation of rhinophyma have been suggested, such as a blade/shave excision , , dermabrasion , , , cryosurgery , laser with different energy sources , , , , carbondioxide laser resurfacing with fibrin sealing , electrosurgery/diathermy , , a combination of laser and electrosurgery or further techniques in a single patient , , and high-frequency ablation . All techniques proved to be sufficient to reduce the soft tissue overgrowth without damage to the cartilage. However, different attitudes exist concerning the coverage of the defects. Some authors used skin graft for coverage of the defects , others do not . Hyperpigmentation was noted after laser ablation and radiofrequency . Recurrence of hamartomas is a disadvantage of several treatment measures. In the present case the spontaneous re-epithelialization of the nose resulted in an acceptable profile and functional coverage. However, recurrence of angiofibroma was recognized. No hyperpigmentation occurred in the re-epithelialized regions of the nose after six years follow-up. ConclusionElectrosurgical reduction of the extremely deformed nose was a simple and effective treatment with proven long-lasting improvement of physical appearance in a patient with TSC who had developed a rhinophyma. NotesCompeting interestsThe authors declare that there is no conflict of interest concerning the present publication.Funding sources None. Bae-Harboe YS Geronemus RG Targeted topical and combination laser surgery for the treatment of angiofibromas 2013 Lasers Surg Med 555-7 Bae-Harboe YS, Geronemus RG. Targeted topical and combination laser surgery for the treatment of angiofibromas. Lasers Surg Med. 2013 Nov;45(9):555-7. 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1 1 Figure 1: Rhinophyma in tuberous sclerosis complex patient at the time of admission, profile (A) and en face (B) photographs of the nose. Debulking procedure of the rhinophyma exposes fibrous tissues with enlarged sebaceous glands (C). Electrosurgical remodeling of the nose’s shape (D) and uneventful wound closure during secondary re-epithelialization of the nose (20 days after surgery (E)). Six years later (F, G) the shape of the nose has remained unchanged but a slight and partial recurrence of angiofibroma is visible.

2 2 Figure 2: Dermal histopathology presenting as groups of dilated thin walled vessels in fibrous tissue and hyperproliferative sebaceous glands, H&E stain.

2 0 0