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Giant Angiofibromas in Tuberous Sclerosis Complex

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Giant Angiofibromas in Tuberous Sclerosis Complex Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis Denisa Kacerovska, MD, PhD,a,b Katrin Kerl, MD,c Michal Michal, MD,a,b Hana Filipova, MSc,d Radek Vrtel, PhD,d Tomas Vanecek, PhD,a,b Hana Zelenakova, MD,e Jaroslav Kraus, MD,f Roman Kodet, MD, PhD,g and Dmitry V. Kazakov, MD, PhDa,b Pilsen,Olomouc,Tloskov,Benesov,andPrague,CzechRepublic;andZurich,Switzerland Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C[T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC. ( J Am Acad Dermatol 2012;67:1319-26.) Key words: adenoma sebaceum; elephantiasis; fibrous papule; giant angiofibroma; localized lymphedema; tuberous sclerosis complex. From Sikl’s Department of Pathology, Charles University in Prague, Presented in part at the XXX Symposium of the International Faculty of Medicine in Pilsena; Bioptical Laboratory, Pilsenb; Society of Dermatopathology, Santiago de Chile, October Department of Dermatology, University Hospital, Zurichc; 28-31, 2009. Department of Clinical Genetics and Fetal Medicine, University Reprint requests: Dmitry V. Kazakov, MD, PhD, Sikl’s Department of Hospital, Olomoucd; Diagnostic Institution of Social Care, Pathology, Charles University Medical Faculty Hospital, Alej Tloskove; Department of Otorhinolaryngology, Hospital Bene- Svobody 80, 304 60 Pilsen, Czech Republic. E-mail: kazakov@ sovf; and Institution of Pathology and Molecular Medicine, medima.cz. Second Medical Faculty and Teacher’s Hospital, Prague.g Published online May 2, 2012. Funding sources: None. 0190-9622/$36.00 Conflicts of interest: None declared. Ó 2012 by the American Academy of Dermatology, Inc. doi:10.1016/j.jaad.2012.03.021 1319 1320 Kacerovska et al JAM ACAD DERMATOL DECEMBER 2012 Tuberous sclerosis complex (TSC) is an autosomal evident. The patient had a history of a subependymal dominant neurocutaneous syndrome characterized giant cell astrocytoma, obstructing the foramen of by various hamartomas and tumors involving mainly Monro and resulting in raised intracranial pressure, the skin, brain, retina, kidney, heart, and lung.1-10 It is which was surgically removed at the age of 16 years. caused by alterations in either of two tumor sup- Because the facial lesions obstructed the nostrils and pressor genes: TSC1 located on chromosome 9q34 interfered with normal breathing they were removed and encoding the protein hamartin (130 kd)11; by radiofrequency ablation. and TSC2 located on chro- The patient died 14 mosome 16p13.3 and encod- months after the cutaneous CAPSULE SUMMARY ing the protein tuberin (180 surgery. A voluminous tumor kd).10,12-15 Mutations in TSC2 of the retroperitoneum caus- d Giant angiofibromas in patients with appear to generate a more ing bowel compression was tuberous sclerosis complex are severe phenotype than alter- detected by computed to- extremely rare. ations in TSC1.8,10,16-19 mography. The nature of the Cutaneous lesions in pa- d Localized lymphedema was found on tumor remained unknown as tients with TSC encompass histopathologic study of multiple permission for autopsy was facial angiofibromas, hypo- lesional specimens from one patient. denied by her family. melanotic macules, shagreen d Localized lymphostasis may contribute patches, forehead fibrous to the pathogenesis and development of Patient 2 plaques, and ungual or peri- giant angiofibromas in tuberous sclerosis This female patient pre- ungual fibromas (so-called complex. sented at the age of 6 years ‘‘Koenen tumors’’).10 Facial and was followed up by the angiofibromas show a predi- Department of Dermatology, lection for the centrofacial area. They appear usually University Hospital, Zurich, for almost 60 years (from between 2 and 6 years of age, with increased growth 1933 to 1992). Her facial angiofibromas steadily at puberty, and mostly remain 4 to 5 mm in size.20,21 increased in size causing obstruction of the left There are a few reports describing unusual giant nostril (Fig 2). Several attempts at carbon-dioxide angiofibromas in both patients with TSC and in laser ablation failed (1985 to 1991). In addition, she patients without an accompanying neurocutaneous had periungual fibromas on the toes, hypopig- syndrome.22-26 We report two patients with giant mented macules on the trunk, and confetti-like disfiguring angiofibromas associated with TSC. In hypopigmentation on both arms. She had severe one case, histopathologic study of many lesional mental retardation. She was unrelated to patient 1. specimens revealed unusual features consistent with lymphostasis, suggesting that this pathogenetic METHODS mechanism might contribute to their clinical A total of 42 lesional specimens were available for appearance. study from patient 1. No histopathologic specimens were available from the second patient. The material CASE REPORT was routinely fixed in 4% formaldehyde and embed- Patient 1 ded in paraffin. The paraffin blocks were cut into The patient was a 29-year-old woman with epi- 5-m-thick sections and stained with hematoxylin lepsy (generalized tonic-clonic seizures), advanced and eosin. In addition, periodic acideSchiff, Giemsa, mental retardation, and conspicuous cutaneous le- Verhoeff, Prussian blue (iron), Alcian blue pH 2.5, sions on the face, which appeared during childhood mucicarmine, and chloracetate esterase staining was and rapidly increased in number and size around 15 performed. years of age. There were multiple large nodules, pale Immunohistochemical studies were performed to pink, with a smooth glistening surface, 0.5 to 2.0 on 5 lesions using the antibody against cytokeratins cm in diameter, on the chin, nasolabial folds, and (clone AE1/AE3, dilution 1:1000, Neo Markers, cheeks (Fig 1, A). Similar but smaller lesions were Westinghouse), CAM 5.2 (clone CAM 5.2, dilution observed on her forehead and earlobes (Fig 1, B and 1:200, Becton Dickinson, Erembogedem), K903 C ). On the right ear, the papules were superimposed (clone 34bE12, dilution 1:300, Dako, Carpinteria, on a background of otophyma (Fig 1, B). There were CA), CK 7 (clone OV-TL12/30, dilution 1:200, Dako, pink periungual nodules on the fingers and toes (Fig Glostrup), S-100 protein (polyclonal, dilution 1:10000, 1, D). Inconspicuous but multiple hypopigmented Dako, Glostrup), leukocyte common antigen (clone macules were found on the trunk and the extremi- 2B111PD7/26, dilution 1:500, Dako, Glostrup), CD1a ties. Prominent gingival hyperplasia was also (clone MTB1, Novocastra, Newcastle), CD68 (clone JAM ACAD DERMATOL Kacerovska et al 1321 VOLUME 67, NUMBER 6 KP1, dilution 1:200, Neo Markers, Westinghouse), CD (Fig 6, A). Some specimens disclosed foci of vacuolar 117 (polyclonal, dilution 1:150, Dako, Glostrup), CD alteration at the dermoepidermal junction, Civatte 34 (clone QBEnd/10, dilution 1:800, Neo Markers, bodies, and melanophages in the subjacent dermis Westinghouse), factor XIIIa (polyclonal, dilution (Fig 6, B). One lesion manifested lipomatous meta- 1:300, Calbiochem, La Jolla, CA), vimentin (clone V9, plasia of the stroma. In several blocks there were dilution 1:1000, Neo Markers, Westinghouse), D2-40 areas of fibrosis associated with nodules of plasma (clone D2-40, dilution 1:200, Dako, Glostrup), and cells. alpha-smooth muscle actin (clone 1A4, Dako, dilution 1:1000, Glostrup). Immunohistochemical findings For molecular biologic studies, genomic DNA was Staining for D2-40 and alpha-smooth muscle actin isolated from the peripheral blood of patient 1 (after confirmed that many dilated vessels represented obtaining written informed contest) according to the lymphatics (Fig 4, B and C ). Collapsed (normal) method of Miller et al27 and underwent routine lymphatic vessels labeled with D2-40 were also seen. screening for causative mutations established in There was strong
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