FAMILIAL LICHEN AMYLOIDOSIS

Transcription

1 CASE REPORT FAMILIAL LICHEN AMYLOIDOSIS Lisa Yuniati, Farida Tabri, Dirmawati Kadir Department of Dermatovenereology Medical Faculty of Hasanuddin University / Wahidin Sudirohusodo Hospital Makassar ABSTRACT Familial Lichen amyloidosis (FLA) is an autosomal dominant disorder which uncommonly, chronically and characterized by browny itchy papules, commonly in woman and occur between the ages of years. Lichen amyloidosis (LA) is a relatively common skin disease in Southeast Asia, South America, and the Republic of China but the incidence of LA is unclear. In Indonesia, Harahap and Hutapea was report 11 cases, and also Djuanda et al was reported 78 cases of LA in Approximately only 10% of LA cases found to be familial. It is thus suggested that genetic factor may play a role in its pathogenesis. The predilection on the surface of the leg extensor (pretibial surface), extensor arms, back and thigh. Various modalities of therapy were reported was given variation results. Application of topical corticosteroids can give clinical improvement or no improvement on lesion. Reported nine cases of lichen amyloidosis in three families. The onset was around puberty and 3rd decade and pruritus began on the lower legs. The diagnosis was established by the same history of the disease in the family, the characteristic clinically and there are some deposits of amyloid in histopathology examination. There is no spontaneus improvement to this cases. Keywords: familial lichen amyloidosis, autosomal dominant disorder, genetic factor. 54

2 Lisa Yuniati Familial Lichen Amyloidosis INTRODUCTION Lichen amyloidosis is a rare skin disorder, chronic, extremely itchy, and is characterized by a brown papules. This disorder is the deposition of amyloid in the skin without the involvement of viseral organ. 1-8 Amyloidosis is an extracellular deposition of insoluble abnormal fibrils, derived from the aggregation of plasma proteins that have the wrong code. Deposition of amyloid-containing normal plasma glycoprotein, serum amyloid P component (SAP), heparan sulfate, sulfate proteoglycans, apolipoprotein E and glycolsaminoglycan chains, as a constituent of nonfibrilar. 2, 4 The incidence of LA is unclear. 4 Lichen and macular amyloidosis is rarely encountered in western 6,7, but quite a lot in Asia (Indonesia, Singapore, Taiwan, Thailand), Eastern Europe and in South 4, 7, 9, America. Lichen amyloidosisis 1, 4, 5, 8, 9, 12, 15, common in the Chinese race, 16 is more common in women and occur 4, 6, 7, between the ages of years. 13 This case is rare to find and only about 10% of cases are found to be familial. Until now, the histopathological and molecular features still unclear. 17 Predilection on the surface of the leg extensor (pretibial surface), the extensor arms, back, and thigh The lesions are most often found on the pretibial region of the lower leg, the extensor arms, back and thighs, 1,2 but there are some cases of lichen amyloidosis inunusual places of the upper lip and lower nose. 3 Various modalities of therapy were reported was given variation results Application of topical corticosteroids can give clinical improvement or no improvement on lesion. 1,12.13 In this case, it was reported three families with a diagnosis of lichen amyloidosis of familial history which made by the same history of the disease in the family and the 55 characteristic clinically and there are some deposits of amyloid in histophatology examination. Spontaneous healing is not found in this case. CASE REPORT Family 1 A 41-year-old woman who had a major complaint arose blackish brown rash on both lower limbs since three months ago before coming to the dermatovenereology clinic for treatment. Brownish nodule was initially confined to some areas of the lower limbs, but is increasingly spread to cover almost the entire lower leg. It felt very itchy rash that patients scratch throughout the day, disruptting the activities and have difficulty when sleeping. Nodule became more hardened and blackened due to scratching History of similar complaints experienced by the patient's family. Patient's mother, 58 years old, had similar complaints since the age of 45 years, the emergence of a pimple, also blackish brown at the same place that is both legs. The older brother, 45 years old, break out in pimples blackish brown since 10 years ago. Younger brother, 38 yo, the same complaints arose since 3 years ago. But not the same lesion was found elsewhere for all cases. On dermatological examination showed hyperkeratotic papules and plaques, macular hyperpigmentation, excoriation and licenification in both regions of the lower limb, ie right and left tibialis anterior (Fig.1)

3 IJDV Vol.1 No Fig. 1 Dermatological examination of her younger brother showed similar clinical symptoms in with hyperkeratotic papules and plaques, macular hyperpigmentation, excoriatin and licenification in both regions of the lower limb. Fig.2 Differential diagnoses for the patients are lichen amyloidosis and lichen simplex chronicus. Investigations carried out is the examination of skin biopsy and post treatment biopsy of patients given cefadroxyl 500mg twice daily dan mefenamic acid 500 mg three times a day and fucidic acid cream for the biopsy scar. In addition to the lesions was given of topical combination with desoxysimethasone ointment and salicylic acid 3% that is applied in the morning and evening. Be given antihistamines mebhydrolin napadisylate 50 mg twice daily. 56 Fig 3. The results of histophatologic examination showed epithelial hyperplasia, hyperkeratosis, dermal papillar accompanied by heaps of rounded masses or the presence of amyloid acinophylic so as to provide a conclusion as lichen amyloidosis (Fig. 3a, b). With the results of investigations are confirmed by anamnesis and clinical examination before, beupheld as a working diagnosis of lichen amyloidosis Family 2 Case 1 A Women, 44 years old, with major complaints arising blackish brown rash on both lower limbs since ± 10 years ago (in 1998). Initial lesion appeared on her right ankle and then spread to both legs. This complaint is accompanied by intense itching, so patients often scratch. In 1998 the patient was treated by a dermatovenereologist and was gave antihistamine and topical corticosteroid. History of similar illness in family, patient s child into 2 of 6 brothers, 2 younger sister also suffer from the same disease. Dermatological examination revealed on the inferior extremities dextra et sinistra was founded macular hyperpigmentation, hyperkeratotic papules, scale smooth, erosion, excoriation. (fig 4) Histopathological examination with Congo red staining picture obtained hyperkeratosis, hypergranulosis, epidermal hyperplasia, colloid bodies, basal cell vacuolar

4 Lisa Yuniati Familial Lichen Amyloidosis degeneration, melanofag, and perivascular lymphocytic infiltrate in the dermis of lichen amyloidosis which is support the diagnosis. (Fig. 6a, b) The management of patient with dermabration on right foot and left foot sanded and followed by giving 0.1% retinoic acid. Patient control 10 days later, there were clinical improvement. Macular hyperpigmentation and hyperke ratotic papules were reduced (Fig. 5). A 40-year-old woman (the patient s sister ) complaining about a blackish papules on both legs and upper arms, since one year ago. Complaint accompanied by intense itching that the patient is always scratching. The patient had never previously suffered from similar complaints and have the same history in the family of brother and sister. There was no history of previous treatment. Dermatological examination in the region of the left inferior extremities et obtained efflorescence form hyperkeratotic and hyperpigmentation papules are multiple, accompanied by erosion and excoriation. (fig 7) Histopathological investigations also using Congo red staining and obtained results that support the diagnosis of lichen amyloidosis. (Figure 9a, b) Patients given tacrolimus 0.03% cream with clobetasole proprionat ointment on the left leg, and tacrolimus 0.03% cream on the right foot. Two weeks later, the clinical appearance of acquired macular hyperpigmentation and hyperkeratotic papules are reduced (Figur e 8). Fig. 4 Fig. 5 Fig. 7 Fig. 8 Fig. 6 Case 2 57 Fig. 9 Case 3 A woman, 36 years complained of black spots on both legs and upper arm experienced since two years ago. Itching of the lesions especially disturbing sleep and activity, as well as increased itching when scratched. Denied a history of previous treatment. The same complaint was also felt by the patient's sister (brother of the 2nd and 4 th ). Dermatological examination in the region of the left and right inferior extremities, obtained effloresensi form hyperkeratotic papules and hyperpigmentation are multiple, accompanied by erosion and eskoriasi. (fig.10) Like the case of the first and second cases, histopathological investtigations also using Congo red staining and

5 IJDV Vol.1 No the conclusion that support the diagnosis of lichen amyloidosis. (Figure 12a, b) Therapy combination was given clobetasole propionat cream with retinoic acid 0.05% cream and retinoic acid 0.05% cream alone. Patient control 10 days later with improvement in hyperpigmented macular lesions appear and hyperkeratotic papules that halted reduced. (Figure 11) Fig. 10 Fig. 11 Fig. 12 DISCUSSION Cutaneous amyloidosis has a characteristic form of amyloid deposition in the skin without a deposit on the internal organs others. 1 From the classification of cutaneous amyloidosis are the most common is macular and papular amyloidosis or lichen known as amiloidosis. 1, 2.4 The case of cutaneous lichen amyloidosis is rare, and among cases were found, about 10% are cases familial. 17 Genetic role in the pathogenesis of lichen amyloidosis has been widely studied. Recent theory suggested a role of beta receptor mutations onkostatin M / oncostatin M-specific receptor (OMSR) underlying this familial primary cutaneous amyloidosis, so that genetic factors are also thought to play a role in the incidence of LA. And the discovery of mutations in the gene OMSR provide new insight in the mechanism of apoptosis in the skin itchy. 16 Sakuma et al 18 reported two cases of familial primary cutaneous amyloidosis showing the presence of a dominant autosomal gene factor. 17 In Japan, reported two cases of familial lichen amyloidosis between mother and child and HLA types found in those patients is somewhat different to the Japanese people. 19 In this case reported found similar complaints on 4 people in one family the mother and three children. Identification of the gene for familial cases of cutaneous amyloidosis is important to provide significant new insights to explain the underlying pathomecanism itching in the skin, inflammation and keratinocyte apoptosis. 15 And the weakness in this case report is not done the identification of genes in a patient and other family members. The clinical features of cutaneous a- myloidosis that occurs in a family varies, it can be in the form of macular or lichen, starting from the ankle with a picture of papules and local lichenification accompanied by severe itching to the spread of lesions to other areas of the abdomen, chest, back, arms, thighs, dorsum pedis, buttocks. The onset of the disease also varies, between the ages of 5-18 years and some are between the ages of The family's first LA show clinical picture characterized hyperkeratotic papules and plaques, macular hyperpigmentation, excoriation and lichenification in both regions the lower extremities, ie right and left tibialis anterior, complaints began to arose the average age of years. The second family also showed the same 58

6 Lisa Yuniati Familial Lichen Amyloidosis clinical picture and complaints arise average age of years. Only one case of two families who found the existence of lesions in other places of the upper arm. Although the etiology is not known, estimated to cause chronic irritation of the skin keratin degeneration is followed by excessive apoptosis causes amyloid deposits, thought to be the etiology of lichen amiloidosis. 2,12 It is connected with the state of pruritus, suggesting that mechanical factors associated with longer scratching of the skin may is an important factor. Scratching with a towel, brush for the shower, insect bites can cause damage epidermis. 2,4.12 This is consistent with the history of the patient where there is use of a brush or sponge for bath soap, if temporary, sometimes use it with a little hard, especially certain areas like the legs below it. In theory apoptotic keratinocytes stated that any damage that exceeds the ability of phagocytic cells to normalize the abnormal keratin production will increase and the conversion gain sitoid be amiloid. 2 There is a statement that the treatment of lichen amyloidosis not only get rid of deposit amiloid, but also reduces pruritusnya. 4 In this case report in addition to providing topical, given also the mebhydrolin napadisylate systemic antihistamines. There is research that says a reduction in density of innervation in the epidermis and dermoepidermal junction on the skin of lichen amyloidosis patients is responsible for the pruritus. 15 Differential diagnosis in this case is lichen amyloidosis are diagnosed with lichen simplex chronicus. Lichen simplex chronicus pruritic papules characteristic of chronic, there is lichenification and similar to lichen amyloidosis which has a picture of hyperkeratosis, acanthosis and the 59 presence of inflammatory infiltrates lymphohistyocitic mild to moderate, but in lichen simplex chronic acidophylic not found the body or bodies amyloid. 1, 2 Diagnosis of Familial lichen amyloidosis in this case report was made by same history of the same disease in the family and the characteristic clinical picture and there were deposits of amyloid in histopathologic examination. Where all the patients in this case report were the siblings with the same clinical picture of macular hyperpigmentation and hyperke ratotic papules with erosion or excoriation. Histopathological picture in these patients in accordance with lichen amyloidosis, acquired the epithelial hyperplasia, hyperkeratotic, amorphous objects or acidophylic on the characteristics of the dermal papillar as lichen amyloidosis.this is consistent with the literature that states the existence of substantial deposits of amyloid in the papillary dermis and are causing more flat rete ridges on the papular (lichen) amiloidosis. 2 Histopathological investigations by congo red staining and crystal violet, histopathological images obtained in the form of globular masses of eosinophilic amorphous material in the papillary dermis, positive staining amyloid can. Also a picture of hyperkeratosis, hipergranulosis, which is too obvious epidermal hyperplasia, colloid bodies, basal cell vacuolar degeneration, melanofag, and perivascular lymphocytic infiltrate in dermis. 11 Histopathological examination with congo red staining performed on family and all provide an appropriate description for the lichen amyloidosis histopathology. Several therapeutic modalities for lichen amyloidosis including the use of hydrocolloid dressings potent topical corticosteroids either occlusion or occlusion are not pro-

7 IJDV Vol.1 No vided on a mild lichen amyloidosis, calcipotriol with and without phototherapy, 2 acitresin, dimethyl sulfoksida 10.20,21 or in combination with PUVA photochemotherapy, 6 dexamethasonecyclophosphamide pulsetherapy, 8 topical application of menthol 2%, 9 and topical retinoic acid. 11 In addition to topical and systemic therapy, there are some actions that give satisfactory results in lichen amyloidosis, which is dermabrasion, pulse dye laser, 2 and excision of skin lesions of lichen amyloidosis accompanied grafting. 22 Amyloid in lichen amyloidosis limited to the papillary dermis, and does not involve blood vessels and adnexal tissue, and this principle is used in the treatment of lichen amyloidosis with dermabrasion and also scalpel. 2 Potent topical corticosteroids in mild cases of LA gives satisfactory results in some cases, especially its use in occlusion or in combination with keratolytic agents such as salicyl acid. 1 Successful treatment for lichen amyloidosis that accompanied atopic dermatitis using a combination of narrowband ultraviolet B phototherapy, topical corticosteroids and antihistamines are also reported. 13 In this case report is given a wide range of topical therapeutic modalities, such as corticosteroids were desoximethasone ointment in combination with salicylic acid 3% with occlusion, and clobetasole propionate ointment. It is also given tacrolimus cream, or retinoic acid cream. Some actions are also performed such as dermabrasion and sanded. All of these therapeutic modalities provide varying results. The recurrence of lichen amyloidosis still remain high. It is important to reduce the friction trauma caused by pruritus. 4 Although therapy in lichen amyloidosis gave varying results, but the granting of this combination treatment gives satisfactory results. It is recommended to patients to reduce the trauma to the lesion to prevent recurrence. REFERENCES 1. Black MM, Albert S. Amyloidosis. In: Bolognia JL, Jorozzo JL, Rapini RP, eds. Dermatology. London: Mosby; p Breathnach. Amyloid and the amyloides of the skin. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook`s Textbook of Dermatology. 8 th ed. USA: Blackwell; p Jhingan A., Lee JS., Kumarasinghe SP. Lichen amyloidosis in an unusual location. Singapore Med J 2007; 48: e Lachmann HJ, Hawkins PN. Amyloidosis and the Skin. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick`s Dermatology in General Medicine. 7 th ed. New York: Mc Graw Hill Medical; p Sezer E, Erbil AH, Koseoglu RD, Fliz N, Kurumlu Z. Successful treatment of lichen amyloidosis with cryosurgery. Gulhane Tip Dergis 2006; 48: Grimmer J, Weiss T, Weber L, Meixner D, Scharffetter-Kochanex K. Succesful treatment of lichen amyloidosis with combined bath PUVA photochemotherapy and oral acitetrin. Clin ExpDermatol 2006; 32: Aoki M. Lichen amyloidosis of the auricular concha: Succesful traetment with electrodesication. J Dermatol 2009; 36: Gupta R, Gupta S. Dexamethasone cyclophosphamide pulse therapy in lichen amyloidosis: a case report. J Dermatol Treat 2007; 18: Frohlich M, Enk A, Diepgen TL, Weisshar E. Succesful treatment of therapy-resistant pruritus in lichen amyloidosis with menthol. Acta Derm Venereol 2009; 89: Carlesimo M,et al. A case of lichen amyloidosis treated with acitrecin. Clin Ther 2011; 162: e

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