C ase r eport Naevi congenitales pigmentosi Naevi congenimks p-igmentosi gigantei cutis S. Stojanovic, M. Poljački, R. Preveden and A. Micic - - -------------------- - - - - SUM MAR Y Authors present the case of a 21-year-old female patient with the characteristics of the congenital pigmented hairy nevi. There were numerous changes in the form of the giant nevi, characterized by the pigmented, hairy appearance. AII observed changes were present from birth and had dermatomical distribution on the skin of the trunk, upper and lower extremities and the face. According to the Wallace's rule of nine, total skin surface covered by the changes was about 20%. The patient did not observe changes in the color, size or distribution of the nevi during her life. Coexisting changes in the brain structures, which may indicate neurocutaneous melanosis, induced us to perform EEG and MRI examinations but the obtained results were negative. The extensive skin changes and the lack of evidence of malignant alteration of the nevi were the reasons we suggested further clinical surveillance and observation of the patient. Introduction Congenital giant pigmented melanocytic hairy nevus (CPHN) of the skin (naevu s congenitalis pigmentosus et pilosus giganteus) usually is present at birth, but in about 2% of the cases it may appear in the first few weeks of life. CPHN is characterized by the appearance of great pigmented skin changes that are distributed according to dermatomic areas , mainly on hips, abdomen, upper and low er extremities. These pigmented skin changes are unequally colored, being either dark brown or black. Watt-like protrusions could cover the surface of the changes. Edges of the affected skin are irregular, accompanied by smaller satellite nevi or surrounded by hair. Concomitantly w ith development of a child, skin surfaces covered by CPHN are becoming thicker, darker and covered by wart-like protrusions. Changes found on the head and neck may accomp~ny meningeal melanocytos is (neu rocutan eou s melanosis). Skin changes are ranging in size from extremely small (less than 1.5 cm in diameter) to very large (more than 20 cm in diameter). Possibility for malignant alteration of CPHN into the malignant melanoma is estimated to be 2-31 % (1). acta dermatovenerologica A.P.A. Vol 8, 99, No 2 ----- ----------------- - ------- 67 Naevi congenitales pigmentosi \ 68 Figure 1. Small and middle sized congenital pigmented hairy nevi on the tace and neck. Figure 2. Numerous small and middle sized congenital pigmented hairy nevi on the back and upper extremities. Figure 3. Congenital pigmented hairy nevus (CPHN) in the same patient covering completely the right lower extremity and the pubic region. ' Figure 4. Congenital pigmented hairy nevus (CPHN) in our patient covering right gluteal area. C ase r e p ort acta dermatovenerologica A.P.A. Vol 8, 99, No 2 Case r epo rt Case description A female patient, 21-year-old student, came to the Clinic for Dermatovenereology in Novi Sad because of the appearance of lichenoid papules. The changes were shiny, smooth, distributed on both wrists. In addition to these findings the patient complained only about pruritus . After clinical examination the diagnosis lichen ruber planus was made. During the examination nurn.erous large and pigmented changes distributed on the face, neck, abdomen, upper and lower extremities were observed. The total surface covered by the 75 lesions arn.ountecl accorcling to the Wallace 's rule of nine to approximately 20%. The lesions were rouncl. Some had a rough papillomatous surface covered by thick dark-brown hair, 0.3 to 4 cm long. Lesions were sharply delinea ted , unequ ally pigmented and scattered. Diameters of single lesions were from 0.5 to 2 cm, while some were of giant size, one covering the entire right leg, extencling as far as the gluteal and pubic area . Laboratory and other .findings Blood celi count: normal; sedirn.entation rate: nor- mal; MRI: normal findings on leptorn.eninges ancl other brain and spina! tissue structures; EEG: normal. Discussion Frequency of the appearance of CPHN with diameter larger than 20 cm, in a pediatric patient, is estimated to be 1: 4 150. Female patients are preclominantly affectecl by these skin changes. In the 74% of cliseased patients there is concomitant appearance of satellite nevi, ancl in 31%ofthe cases changes on the rn.ucosal membranes w ere obse1vecl. Pigmentecl skin lesions were covered with hair in abou t 95% of the cases (3). CPHN localized on extremities usually recluces their growth, therefore causing cosmetic, as well as functional disturbances (2) . In our patient, besides CPHN localized on the right lower extremity, satellite nevi on the skin were present as well. Pigmentecl changes on the rn.ucosal surfaces were absent, as well as the signs of the reduction in growth of the affected extremity. Data about poss ible malignant alteration of CPHN into the malignant melanoma are different, but they range from 6-12% (4) . Cytogenetica l researches performecl by Vollen- Naevi congenitales pigmentosi weider et al. (5) proved that CPHN, together with malig- nant melanoma, belong to the clinical manifestation of "ring chromosome 7 syndrome" (6). These findings obtained by Vollenweicler could be a goocl basis for the explanation of malignant alteration of CPHN. Our patient had no clinical signs of malignant alteration, and due to technical problems we were not able to perform forther cytogenetical research . According to the statements frorn. the literature (2,7, 8,9) about possible appearance of the intracranial mela- nosis in patients with CPHN, EEG and MRI testing were performed in our patient. These tests excluded the presence of melanoma of leptomeninges, as well as of other brain structures. Results provecl that our patient did not show signs of either neurocutaneous m elanosis, or of melanoma of leptomeninges. Literature data also mention simultaneous appe- arance of CPHN w ith angiolipoma of the skin (10) and the appearance of CPHN in the Shokeir's syndrome (congenital universal alopecia, epilepsy, mental retar- dation and pyorrhea) (11) . A case characterized by so- called "swimming suit distribution" of the CPHN, that appeared together with subcutaneous retrolumbal epen- dymoma (two concomitant neuroectodermal tissue defects) was mentionecl (12). Our patient dicl not de- monstrate any sign of other congenital neuroectoclermal clefect or tumor. Taking into consideration great possibility for malig- nant alteration of CPI-IN into malignant melanoma, therapy should be directecl towarcl early prophylactic surgical measures cluring childhood (13). Surgical procedure in patients with CPHN is usually individual, differing from case to case (14). Lifelong surveillance of the patient in order to detect the early signs of the malignant alteration, enables grafting of the normal skin or excision , asa part of the therapeutic procedure (14). Since our patient does not have any visible clinical signs of malignant alteration , we recommend fur ther clinical srnv eillance of the skin changes in order to detect po- ssible malignant transformation. Conclusion Due to the ve1y high risk for malign:'mt alteration of CPHN into m alignant melanoma, we present this case for further education of younger colleagues who may, frequently, be faced in their everyday routine with ll.1 - mors of melanocytic origin acta dermatovenerologica A.P.A. Vol 8, 99, No 2 ------------------------- - - - - ----- 69 Case report Naevi congenitales pigmentosi C E S 1. Opric M, Mar kovic Lj. Pigmentni !umori kože. IDP "Naucna knjiga", Beograd 1993; 1: 11-58. AUTHORS' ADDRESSES 2. Ruiz-Maldonado R, Tamayo L, Laterza AM, Duran-C. Giant pigmented nevi: clinical, histopathologic, and therapeutic considerations. J Pediatr 1992; 120(6): 906-11. 3. Mackie RM. Melanocytic Naevi and Malignant Melanoma. In: RookA et al: Textbook ofDermatology. 5th.ed., Blackwell Scientific Publications, London , 1992; 2: 1525-60. 4. Bet! BJ. Congenital giant pigmented nevi. Dermatol-Nurs 1994; 6(5): 307-12. 5. Vollenweider-Roten S, Masouye I, Delozier-Blanchet CD, Saurat JH. Cutaneous findings in ring chromosome 7 syndrome. Dermatology 1993; 186(2): 84-7. 6. Vollenweider-Roten S, Delozier-Blanchet CD, Masouye I, Saurat JH. Melanoma associated with ring chromosome 7. Dermatology 1993; 186(2): 138-43. 7. Frieden IJ, Williams ML, Barkovich AJ. Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 1994; 31 (3 Pt 1): 423-9. 8.Yoshioka S, Miyayama H, Ishihara A, Kochi M, Ushio Y. Neurocutaneous melanosis- a case report. No To Shinkei 1994; 46(3): 279-84. 9. Vadoud-Seyedi R, Heenen M. Neurocutaneous melanosis. Dermatolog}'. 1994; 188(1): 62-5. 1 O. WonJH, Ahn SK, Lee SH, Kirn SC, Choi SI. Congenital giant pigmented nevus associated with angiolipoma. J Dermatol 1993; 20(6): 381-3. 11. Timar L, Czeizel AE, Koszo P. Association of Shokeir syndrome ( congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus. Ciin Genet 1993; 44(2): 76-8. 12. Bourlond J, Bourlond A, Rousseau C. Retrolumbar subcutaneous ependymoma and giant bathing- trunk nevocellular nevus. IntJ Dermatol 1994; 33(7): 488-92. 13. Sandsmark M, Eskeland G, Ogaard AR, Abyholm F, Clausen OP. Treatment of large congenital naevi. A review and report of six cases. ScandJ Plast Reconstr Surg Hand Surg 1993; 27(3): 223-32. 14. Rhodes RA. Neoplasm: benign neoplasias, hyperlasias and dysplasias melanocytes. In: Fitzpatrick TB et al. Dermatology in general medicine. McGraw Hill Boo k Company, New York - SI.Louis, 1993; 1: 996- 1043. Slobodan Stojanovic, MD, PhD, dermatovenereologist, Clinical Centre Novi Sad, Glinic far Dermato- venerologic Diseases in Novi Sad, Hajduk Veljka br.1-3, 21 000 Novi Sad, Yugosla\'ia. Mirjana Poljački, MD, dermatovenereologist, same address Ruzica Preveden, MD, dermatovenereologist, same address Aleksandra Micic, MD, same address. acta dermatovenero/ogica A.P.A. Vol 8, 99, No 2 ---------------------- ---- - - - 71