Table 1. Summary of clinical findings, histopathology, and genetic analysis of all patients.

Case/Family	Clinical features				Histopathological Examination	Gene mutation
	Freckle-like pigmentation	Cutaneous malignancy	Ophtalmologic abnormalities	Neurological abnormalities
Case 1/1 (Patient IV:3)	Uneven brown spots (Localized) in sun-exposed area	Cancerous lumps (patches) on the cheek	Prolapse right eyeball, ectropion. Cataract left eye	Gait disturbance, Hearing loss	Frozen section from right eye and palpebra: melanoma maligna Biopsy sample from right cheek: suggestive of BCC metastasis. Immunohistochemistry of right cheek sample: Cytokeratine positive, Negative HMB45, Positive CD10 on the palisading tumor cells, and Positive Ber-EP4 stain. Skin tissue: Suggestive of Xeroderma Pigmentosum	Pathogenic variant of the ERCC2 gene (Chr19(GRCh37):g.45855610G>A; NM_000400.3: c.2047C>T, p.(Arg683Trp))
Case 2/1 (Patient IV:4)	Uneven brown spots (Localized) in sun-exposed area	Cancerous lumps (patches) on the cheek	Dry eye	N/A	Skin tissue: Suggestive of Xeroderma Pigmentosum	Pathogenic variant of the ERCC2 gene (Chr19(GRCh37):g.45855610G>A; NM_000400.3: c.2047C>T, p.(Arg683Trp))
Case 1/2 (Patient III:V)	Black spots evenly (Generalized)	Cancerous patch on the lips and palpebrae	Dry eye, cataract	N/A	N/A Passed away	N/A
Case 2/2 (Patient III:3)	Black spots evenly (Generalized)	Cancerous patch on the lips and palpebrae	Cataract, blepharitis	N/A	Skin tissue: Suggestive of Xeroderma Pigmentosum	Nonsense pathogenic variant of the XPC gene (NM_004628.4), c.1941T>A, p.(Tyr647*)

^*Remarks: Not all examinations are available for all patients (eg. For Vitamin D measurement) due to socioeconomic limitations which hinders the patient to take all laboratory examinations