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117 Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome Yue LI 1# , Luyao ZHENG 1# , Fuying CHEN 1 , Zhirong YAO 1 and Ming LI 1,2 * 1 Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665, Kongjiang Road, Shanghai 200092, and 2 Center for Rare Disease, Shanghai. *E-mail: [email protected]; [email protected] # These authors contributed equally to this paper. Accepted Sep 4, 2018; Epub ahead of print Sep 5, 2018 Ultraviolet-sensitive syndrome (UVSS, OMIM 600630, 614621, 614640) is a rare autosomal recessive genoder- matosis, characterized by isolated cutaneous photosen- sitivity and deficiency in transcription-coupled repair (TCR), a subpathway of nucleotide excision repair that rapidly removes transcription-blocking DNA damage (1). UVSS was first described by Itoh et al. (2). Affected individuals are sensitive to the ultraviolet rays in sun- light; a small amount of sun exposure can induce acute sunburn, dryness, freckling, pigmentation anomalies, and telangiectasias in sun-exposed areas of the skin. Although exposure to UV can cause skin cancers, patients with UV-sensitive syndrome do not have the pre-disposition to skin malignancy as in xeroderma pigmentosum. UVSS comprises 3 groups, UVSS-1, UVSS-2 and UVSS-3, caused by mutations in ERCC8 (CSA), ERCC6 (CSB) and UVSSA (KIAA1530), respectively (3). In 1995, Henning et al. (4) mapped the ERCC8 gene to chromo- some 5p14-p12. In 2009, Nardo et al. (5) revealed that the pathological gene of UVSS-2 was the ERCC8 gene. CASE REPORT We report here a 6-year-old boy with a diagnosis of UVSS. He was the first child of healthy parents. The patient had had erythema and papules on his facial skin since birth. The neck and palmoplantar were involved and sporadic rice-sized hazel macules gradually appeared on his facial skin (Fig. 1). Sunburn makes symptoms worse, such as flush, desquamation, pruritus and so on, especially in sun-exposed areas. Medication appears to be ineffective. The patient had a slightly dark basal skin colour, lots of freckles, hypopigmented spots, telangiec- tasia, and slightly dried skin in sun-exposed areas, but no growth retardation or neurological abnormalities. He sho- wed no pre-disposition to cutaneous tumours. Results of routine blood testing, trace elements examination, ANA, mycology examination, porphyrin and uroporphyrinogen were within normal ranges, except that intracellular zinc porphyrins were a little high. The result of the minimal erythema dose (MED) of normal skin to UV indicated that the patient is sensitive to UVB. (UVB 24.9 mJ/cm 2 , UVB < 30 mJ/cm 2 signify the sensitivity to UVB). SHORT COMMUNICATION Fig. 1. Ultraviolet-sensitive syndrome. (A) Clinical features of the patient, the sporadic rice- sized hazel macules on his face. (B) Compound heterozygous mutation c.582G>T, resulting in the mutation of p.W194C, and c.769G>A resulting in the mutation of p.G257R. (C) Part of the normal sequence from exon 7 and exon 9 of ERCC8 gene. Arrows indicate the mutations in this pedigree. Permission is obtained to publish these photos. This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2019 Acta Dermato-Venereologica. doi: 10.2340/00015555-3032 Acta Derm Venereol 2019; 99: 117–118