Dades, OT

Echejoh, GO

Igoche, MI

Ituen, AM

Mohammad, AM

Yiltok, SJ

English

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to any substance or trauma. He had no associatedareas of hypopigmentations; neither was there anyocular nor skeletal problem. His mother and youngersister have similar lesions. He had consulted severalclinics including a leprosy clinic where he wastreated for leprosy with dapsone, a drug he took for 6months without improvement. The main findingswere multiple facial papules and nodules distributedon the nose, forehead and malar, with the nodulesm a i n l y o n t h e m i d l i n e ( F i g u r e 1 ) .Figure1: Photograph of Patient with MultipleFacial Papules and Nodules.INTRODUCTIONCASE REPORTTrichoepitheliomas (TE) are benign cutaneoustumours that originate from hair follicles and occureither as solitary non-familial or multiple familial .The multiple familial trichoepithelioma (MFT) is anuncommon autosomal dominant disease skin tumour,characterized by multiple facial papules and noduleslocated around the nasolabial area, nose, forehead,upper lip and occasionally the scalp, neck and uppertrunk .Histological examination usually shows the typicalhorn cysts, tumour islands composed of basophiliccells arranged in a lace liked network, foreign bodygiant cell reaction and some differentiation towardshair structures .This is case report of a patient that presented withmultiple facial papules and nodules with a familyhistory of similar lesions who had histologicaldiagnosis of Trichoepithelioma (TE).A 36years single male presented with a 25yearshistory of painless, non-puritic multiple nodularfacial lesions which were cosmetically unacceptableto him. There was no information to suggest reaction1, 22-61Correspondence: Dr S JYiltokEmail: simyiltok@yahoo.comNigerian Journal of Clinical PracticeJune 2010 Vol. 13(2):230-232Case ReportMULTIPLE FAMILIAL TRICHOEPITHELIOMA: A CASE REPORT ANDREVIEW OF LITERATURE.*SJ Yiltok, **GO Echejoh, *AM Mohammad, *AM Ituen, *MI Igoche, *OT DadesABSTRACTObjective:Patient and Method:Results:Conclusion:Key Words:Departments of *Surgery and **Histopathology, Jos University Teaching Hospital, Jos, Nigeria.(Accepted 23 March 2009)Multiple familial trichoepitheliomas are rare autosomal dominant skin disease that is rarelyreported from this part of the world. The lesions resemble other types of skin diseases that present with papulesand nodules.This is case report of a patient who presented with multiple facial papules and nodules.He wanted treatment to improve his facial (cosmetic) appearance.A 36 year old single male with a 25 years history of multiple facial papules and nodules. Similarlesions were present in other members of the family. He had several treatments including that for leprosy.Histologically the lesions showed keratinized stratified squamous epithelium overlying proliferating packetsof basoloid cells with hyper chromatic nuclei, along with several keratin horn cysts and moderate stromalinfiltrate of chronic inflammatory cells. Based on the history and the histology a diagnosis of multiple familialtrichoepithelioma was made.For a diagnosis of multiple familial trichoepithelioma to be made in patients presenting withmultiple facial papules and nodules a high index of suspicion is needed. This is more so if there is a history ofsimilar lesions in the family.Multiple Trichoepithelioma, Familial, Cosmetic appearance, Diagnosis230antibodies against bcl-2 CD34 that are expressed byTE are stained by histochemical method according totheir distribution.Reports have shown that TE can undergo malignanttransformation to BCC . This is a rare occurrence butit tells the clinician to remain vigilant and to examinepatients carefully as a seemingly benign lesion mightbe malignant. This is more so that the lesions tend toreoccur after surgical treatment .It has been shown that familial cylindromatosis (FC)and MFT can occur within one family and a singleperson , which suggest that the two types ofdermatosis may be caused by a dysfunction of thesame gene. Based on these facts it has been suggestedthat there are two forms of MFT: one that occurs inisolation is determined by a gene in the region at 9pand another that co-occurs with FC is determined by agene on chromosome 16 the gene . Thehas been mapped out by Biggs et al and is located atchromosome 16q12-13. In a study by Leonard et althey were able to demonstrate loss of heterozygosity(LOH) in a patient with sporadic TE at 16q, based onthis Zhang et al and Zheng et al studied the regionof and they were able to demonstrate that thegene was the genetic basis for MFT in their patients.The pattern of LOH is characteristic of a tumoursuppressor gene (recessive oncogene), that followsthe classic two-hit model . If the germlinemutations are loss of function mutations and thesecond hit (somatic mutation) occurs with equalchance in eccrine (or apocrine) and hair follicle cellsequally, we expect to see both TE andcylindromatosis in patients carrying germlinemutation . One hypothesis says that germlinemutation displays tissue specific function loss whichis dependent or independent of the genomebackground . Germline mutation may determine thetissues where the second hit occurred, withcylindromatosis developing if it happens in eccrine(or apoccrine) cells and TE when it happens to hairfollicle cells.Inactivation of the protein may contribute tooncogenesis by enhancing the degradation ofproteins that suppress cell proliferation or promoteapoptosis . MFT and FC are caused by a geneencoding the protein. This protein has beenshown to be a deubiquitinating enzyme thatnegatively regulates activation o(nuclear factor- ) by specific tumournecrosis factor receptors (TNFRs) that areimplicated in the proper development of skinappendages . Thein inflammation, immune response,oncogenesis and protection against apoptosis .Inhibition of increases resistance to apoptosis(which prevents cell death), a mechanism that hasbeen suggested to cause tumourogenesis.3310211122 62,136132141516CYLD CYLDCYLDCYLDCYLDCYLDCYLDf the transcriptionfactor NF-кB кBNF-кB transcription factor haskey roleHistological sections of one of the lesions showedkeratinized stratified squamous epitheliumoverlying proliferating packets of basoloid cells withhyper chromatic nuclei. Several keratin horn cysts inaddition to moderate stromal infiltrate of chronicinflammatory cells (Figure 2) were seen. Based onthese findings a diagnosis of trichoepithelioma (TE)was made.No treatment was offered, as surgical excision willlead to multiple scars and the effective non surgicaltreatment is currently not available in our centre.Figure 2:Patients with MFT most often present to the hospitalfor cosmetic reason and usually want treatment toimprove their outlook. The lesions are usually denseand are disfiguring a cause of psycho-socialproblem in patients, as seen in our patient who wasnot happy with his face even though the lesions wereasymptomatic.I t i s an uncommon patho logy wi th adermatopathology laboratory in the US reportingabout 2.14 to 2.75 cases per year and most of themare females even though both sexes receive equalgenes (autosomal dominant). Females are mostaffected because of the lessened penetrance .The lesions are skin coloured, firm papules ornodules of 2-8mm in diameter (fig.1), slow growingand commonly seen in childhood and adulthood .It shares similar features with Basal Cell Carcinoma(BCC) and their distinction may be difficult in smallbiopsies . However, this difficulty is mainly in thesolitary TE than in MFT as the family history as wellas the multiple lesions tends to distinguish itclinically. The main histological features thatdistinguish BCC from TE are stroma, clefting andthe absence of papillary mesenchymal branches . Inaddition to this, there are histochemical stainingtechniques that can also differentiate the two .Photomicrograph of Papules Showingthe Typical Features of Trichoepithelioma withthe Presence of Keratinized Horn Cells andIslands of Proliferating Basaloid Cells.DISCUSSION72,444, 63, 4, 8949231Nigerian Journal of Clinical Practice June 2010, Vol.13(2) Yiltok et alMultiple Familial Trichoepithelioma7. Shaffelburg M, Miller R. Treatment ofmultiple trichoepithelioma with electrosurgery.Dermatol Surg. 1998; 24(10): 1154-1156.9. Poniecka AW, Alexis JB, Arkadi M, RywlinMD.10. Gerretsen Al, Beemer FA, Deenstra W,Hennekam FAM, van Vloten WA.11. Biggs PJ, Wooster R, Ford D, Chapman P,Mangion J, Quirk Y, et al.12. Leonard N, Chaggar R, Jones C, TakahashiM, Nikitopoulou A, Lakhani SR.13. Knudson AG Jr.14. Trompouki E, Hatzivassiliou E, Tsichritzis T,Farmer H, Ashworth A, Mosialos G.15. Headon DJ, Overbeek PA.16. Li Q, Verma IM.17. Yin MJ, Yamamoto Y, Gaynor RB.An immunohistochemical study of basalcell carcinoma and trichepithelioma. Am JDermatopathol. 1999; 21(4): 332-336.Familialcutaneous cylindromas: Investigations in fivegenerations of a family. JAmAcad Derm. 1995;33: 199-206.Familialcylindromatosis (turban tumour syndrome)gene localised to chromosome 16q12-q13:Evidence for its role as a tumour suppressorgene. Nat Genet. 1995; 11: 441-443.Loos ofheterozygosity at cylindromatosis gene locus,1, I sporadic skin adnexal tumours. J ClinPathol. 2001; 54: 689-692.Mutation and cancer:Statistical study of retinoblastoma. Proc NatlAcad Sci USA. 1971; 68: 820-823.isa deubiquinating enzyme that negativelyregulates NF-kB activation by TNFR familymembers. Nature. 2003; 424: 793-796.Involvement of anovel TNF receptor homologue in hair follicleinduction. Nature Genet. 1999; 22: 370-374.NF- kB regulation in theimmune system. Nature Rev. Immunol. 2002; 2:725-734.The anti-inflammatory agents aspirin and salicylateinhibit the activity of IkB kinase- Nature. 1998;396: 77-80.CYLDCYLD8. Fisher GH, Geronemus RG. Treatment ofmultiple familial trichoepithelioma with acombination of aspirin and a neutralizingantibody to tumor necrosis factor á: A casereport and hypothesis of mechanism. ArchDermatol. 2006; 142(6): 782-783.NF-kB can be inhibited by a number ofpharmacological agents, mainly anti-inflammatoryagents such as steroids and non- steroidal anti-inflammatory drugs . Studies have shown thatsalicylates and prostaglandins inhibit the enzymeIkB kinase an enzyme involved in the NF-kBpathway . This principle has been applied withencouraging result by Fisher and Geronemus whoreported a case of MFT that was treated withadalimumab (a neutralizing antibody to TNF) andaspirin. With more successful trials this may replacethe traditional modes of treatment amongst whichinclude laser resurfacing , electrosurgery , anddermabrasion .MFT though a relatively uncommon disease can bediagnosed clinically by the pattern of distribution ofthe papules and nodules (usually centro-facial),family history of similar lesions and confirmation byhistology. It remains a difficult lesion to be treatedwith the current treatment modalities. Studies haveshown that the use of anti-inflammatory agents likethe salicylates can reduce the sizes of lesions in MFT.With further research it is hoped that medicaltreatment will become the choice of treatment ratherthan surgical treatment.Sporadic trichoepitheliomademonstrates deletions at 9q22.3. ArchDermatol. 2000; 136: 657-660.Identification of thecylindromatosis tumor-suppressor gener e s p o n s i b l e f o r m u l t i p l e f a m i l i a ltrichoepithelioma. J Invest Dermatol. 2004;122: 658-664.Rarely seen cutaneous lesions in anelderly patient: Malignant transformation ofmultiple trichoepithelioma. Ann Plast Surg.2001; 47(1): 98-99.4.Trichoepithelioma (cited on 27 January 2007)The gene formultiple trichoepithelioma maps chromosome9p21. J Invest Dermatol.1996; 107(1): 41-43.mutation causes multipletrichoepithelioma in three Chinese families.Hum Mutat. 2004; 23(4): 400-4007.8,171784,8 74thREFERENCES1. Matt D, Xin H, Vortmeyer AO, Zhuang Z,Burg G, Böni R.2. Zhang XJ, Liang YH, He PP, Yang S, WangHY, Chen JJ, et al.3. Ayhan M, Adanali G, Senen D, Gorgu M,Erdogan B.5. Harada H, Hashimoto K, Ko MS.6. Zheng G, Hu L, Huang W, Chen K, Zhang X,Yang S, et al. CYLDh t t p : / / w w w . e m e d c i n e . c o m / d e r m /232Nigerian Journal of Clinical Practice June 2010, Vol.13(2) Yiltok et alMultiple Familial Trichoepithelioma

Multiple familial trichoepithelioma: A case report and review of literature

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Multiple familial trichoepithelioma: A case report and review of literature

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