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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 2  |  Page : 148-150

Spitzoid melanoma in a child with xeroderma pigmentosum


Department of Dermatology, Regional Institute of Medical Sciences, Imphal, Manipur, India

Date of Web Publication29-Mar-2019

Correspondence Address:
Dr. Anup Goswami
Gents Hostel-5, Room No-102, Regional Institute of Medical Sciences, Imphal, Manipur,
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_38_18

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  Abstract 


Xeroderma pigmentosum (XP) is an autosomal recessive condition associated with a marked increase in the development of malignancies. We report a 10 year girl with freckles, lentigens and keratosis on the face and neck which had gradually developed from the age of two. History of marked photophobia was present. Few months prior she developed single firm, pigmented, non-tender, freely- mobile, sessile nodule over left ala of nose. Multiple frecklings with atrophic hypopigmented patches were distributed all over face and sparsely on neck. Histopathology examination (HPE) from growth over nasal ala revealed malignant tumour composed of spindloid to epithelioid cells arranged in sheets and nests in dermis suggestive of spitzoid melanoma. Fine needle aspiration cytology (FNAC) from left post-auricular lymph nodes revealed high cellularity comprising of many pleomorphic cells in clusters having enlarged irregular hyperchromatic nuclei. Wide local excision was done with nasolabial transposition of flap cover.

Keywords: Solar lentigens, spitzoid melanoma, xeroderma pigmentosum


How to cite this article:
Devi B, Goswami A, Imlongchaba Y, Dorjee A. Spitzoid melanoma in a child with xeroderma pigmentosum. Indian J Paediatr Dermatol 2019;20:148-50

How to cite this URL:
Devi B, Goswami A, Imlongchaba Y, Dorjee A. Spitzoid melanoma in a child with xeroderma pigmentosum. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Nov 15];20:148-50. Available from: http://www.ijpd.in/text.asp?2019/20/2/148/255202




  Introduction Top


Xeroderma pigmentosum (XP) is an autosomal recessive condition associated with a marked increase in the development of malignancies, especially cutaneous, which was first described by Hebra and Kaposi in 1874.[1] XP has an estimated incidence of 2.3 per million live births in Western Europe, 1 in 20,000 in Japan, and 1 in 250,000 in the USA.[2] XP results from mutations in any one of the eight genes, for example, XPA and XPB. The products of seven of these genes (XPA through to XPG) are involved in the recognition and repair of ultraviolet radiation (UVR)-induced photoproducts in deoxyribonucleic acid (DNA) (cyclobutane pyrimidine dimers and pyrimidine [6-4]-pyrimidone photoproducts [6-4PPs]) by the process of nucleotide excision repair (NER).[3] Defects in the eighth XP gene do not affect NER, instead these so-called XP variants (XP-V) have problems replicating DNA containing ultraviolet (UV)-induced damage.[2] The damaged DNA then accumulates characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms.[4] Multiple oculocutaneous malignancies are a common manifestation on sun-exposed facial areas in patients with XP, commonly basal cell carcinoma, squamous cell carcinoma, and malignant melanoma.[5]

Spitzoid melanoma is the term reserved for a rare group of tumors with striking resemblance to Spitz nevus, often developing in young individuals that are occasionally diagnosed with melanoma in retrospect after the development of metastases.[6] Spitzoid melanomas can occur in children but are more common in adults, clinically presenting as changing nodular amelanotic lesions, but less often pigmented and variegated in color which may become crusted and ulcerated. Due to the fact that spitzoid melanoma shares many histopathologic features with Spitz nevus, it is one of the most difficult to diagnose lesions in dermatopathology. Therefore, ancillary studies with immunohistochemistry using Ki-67/MIB-1 proliferation marker, S100A6 protein expression, cluster of differentiation 99 expression, and molecular diagnostic techniques (HRAS maps to chromosome 11p, BRAF gene mutation) can add extra edge in diagnosis in young adults.[7]

XP is fatal in the third decade but reducing sun exposure, and earlier management of oculocutaneous malignancies improves survival. Early detection of these malignancies is necessary because they are fast growing, metastasize early, and lead to death.[8] Albeit cases of melanoma had been reported earlier; however, there are very few literatures on spitzoid variety of melanoma in XP. Here, we are reporting a case of XP having spitzoid melanoma.


  Case Report Top


A 10-year-old girl reported with freckles, lentigines, and keratosis on the face and neck which had gradually developed from the age of 2 years. History of consanguineous marriage was present in her parents. One of her elder sisters, who developed similar freckling and lentigines, died at the age of 2 years. History of marked photophobia was present, and lesions were present mainly on exposed areas. The symptoms had become worse in the past 2 years. About 2 months ago, she had developed a single nodule over the left ala of the nose [Figure 1]. It was firm, pigmented, nontender, freely mobile, sessile, and measured about 2.5 cm × 2 cm in diameter with a lobular surface showing hemorrhagic crusting. She also had left submandibular and bilateral postauricular lymphadenopathy.
Figure 1: Single sessile nodule over left nasal ala

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Multiple frecklings interspersed with atrophic hypopigmented patches were distributed all over the face and sparsely on the neck. Multiple solar lentigines were present over the face and neck [Figure 2]. Trunk and extremities were relatively spared.
Figure 2: Multiple freckling, solar lentigens, and atrophied patches over face

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Ophthalmological examination revealed bilateral lentigines present on the sclera, but corneal opacities and keratitis were not found.

Mucous membranes, teeth, hair, and nails showed no abnormalities. General physical and systemic examinations were normal. Sexual development was within normal limit. No neurologic involvements were found.

Routine blood investigations were normal. Skin biopsy was done from two sites – one from the right side of the cheek and the second one from growth over the left nasal ala. Histopathological examination (HPE) from cheek showed increase of melanin in the basal layer with transepidermal migration of melanosomes, mild pericapillary lymphocytic infiltration with scattered melanophages found in the upper dermis [Figure 3]. HPE from growth over nasal ala revealed malignant tumor composed of spindloid to epithelioid cells arranged in sheets and nests in dermis. Cells had pleomorphic vesicular nuclei with prominent nucleoli and moderate amount of cytoplasm along with many abnormal mitotic figures. Stroma showed lymphocytic cell infiltration. The superficial dermis revealed dilated capillaries and note is made of pagetoid spread of tumor [Figure 4].
Figure 3: Increase of melanin in the basal layer with transepidermal migration of melanosomes (H and E, ×40)

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Figure 4: Malignant tumor composed of spindloid to epithelioid cells arranged in sheets and nests in dermis (×100)

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Fine-needle aspiration cytology from the left postauricular lymph nodes revealed high cellularity comprising many pleomorphic cells in clusters having enlarged irregular hyperchromatic nuclei. Few multinucleated cells had brown pigment (melanin) along with few histiocytes containing some pigment. Many atypical mitotic figures were found.

Wide local excision was done with nasolabial transposition of flap cover. On subsequent visits, there was no recurrence of lesion. Patient has been advised for rigorous photoprotection by using broad-brimmed hat, wearing double-layered clothing, and using sun-block creams and sunglasses with side shields.


  Discussion Top


XP is a rare human, autosomal recessive skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer including squamous and basal cell carcinomas and melanomas.[9],[10] In classical XP, the median age of onset of the cutaneous symptoms is between 1 and 2 years. Patients with XP under 20 years of age have greater than 10,000-fold risk of cutaneous basal cell or squamous cell carcinoma or malignant melanoma. XP patients have >10,000-fold risk over their lives of developing nonmelanocytic skin cancer compared to the general population and >2000-fold risk for melanoma.

On histopathology, spitzoid melanoma characteristically has a higher degree of cytologic atypia than Spitz nevus. The melanocytes, which can epithelioid or spindle shaped, have large, pleomorphic, hyperchromatic nuclei, and prominent basophilic to eosinophilic nucleoli. The nucleoli can measure half of the diameter of nuclei. In spitzoid melanoma, melanocytes frequently have nuclei containing several nucleoli, some of which are irregular in shape. Epithelioid melanocytes have abundant eosinophilic cytoplasm; however, some melanocytes have amphophilic to pale-staining cytoplasm.[7] In the present study, histopathological findings from growth over the nasal ala revealed malignant tumor composed of spindloid to epithelioid cells arranged in sheets and nests in dermis which have pleomorphic vesicular nuclei with prominent nucleoli and moderate amount of cytoplasm along with many abnormal mitotic figures. Stroma showed lymphocytic cell infiltration. Superficial dermis revealed dilated capillaries and note is made of pagetoid spread of tumor, and these findings are consistent with spitzoid variety of melanoma.

Another study carried out by Fazaa et al. with 12 patients developed melanomas of 216, among which four patients presented with metastatic melanoma. Surgical excision was done for all lesions except for one lesion which was affecting the orbit.

Our patient fits into the classical description of XP with a single spitzoid melanoma on the left ala of the nose. Local excision and grafting were done. In summary, our patient fits the classical description of XP with a single spitzoid melanoma and was treated with local excision and grafting.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that name and initial will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Lim HW, Hawk JL, Rosen CF. Photodermatologic disorders. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Textbook of Dermatology. 4th ed. China: Elsevier Saunders; 2018. p. 1548-68.  Back to cited text no. 1
    
2.
Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis 2011;6:70.  Back to cited text no. 2
    
3.
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH. Understanding nucleotide excision repair and its roles in cancer and ageing. Nat Rev Mol Cell Biol 2014;15:465-81.  Back to cited text no. 3
    
4.
Cleaver JE, Lam ET, Revet I. Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity. Nat Rev Genet 2009;10:756-68.  Back to cited text no. 4
    
5.
Halkud R, Shenoy AM, Naik SM, Chavan P, Sidappa KT, Biswas S. Xeroderma pigmentosum: Clinicopathological review of the multiple oculocutaneous malignancies and complications. Indian J Surg Oncol 2014;5:120-4.  Back to cited text no. 5
    
6.
Barnhill RL, Piepkorn M, Busam KJ. Pathology of Melanocytic Nevi and Malignant Melanoma. 2nd ed. New York: Springer Science & Business Media; 2004.  Back to cited text no. 6
    
7.
Kamino H. Spitzoid melanoma. Clin Dermatol 2009;27:545-55.  Back to cited text no. 7
    
8.
Arora R, Sharma A, Gupta R, Vijayaraghavan M. Cutaneous angiosarcoma in a patient with xeroderma pigmentosum. Indian J Pathol Microbiol 2008;51:504-6.  Back to cited text no. 8
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9.
Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in Western Europe: Xeroderma pigmentosum, cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008;7:744-50.  Back to cited text no. 9
    
10.
DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012;132:785-96.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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