Table 3.

Abnormal skin pigmentation in congenital disorders related to DNA damage.

Pigment Change	Mutated Gene	Dysfunction	Skin Symptom	Reference
Hyper	STK11 /LKB1	Abnormal regulation of UV-induced DNA damage response	Hyperpigmentation of mucous membranes and the skin	[102]
Hyper and hypo	RECQL4	Defects in many aspects of DNA metabolism	Accelerated aging such as atrophic skin and pigment changes	[97,98]
	XPA XPB, XPC, XPD, XPE, XPF, XPG, or XPV	Defects in damaged DNA repair	Photosensitivity, Lentigines, Hyperpigmentation and hypopigmentation, Accelerated photoaging	[98,99]
	Fanconi anemia	Defects in interstrand crosslink repair and telomere maintenance	Poikilodermatic change with hypopigmentation, hyperpigmentation, and telangiectasia	[100,101]
Hypo	Deletion on 15q11.2-q13	Leukocyte telomere length shortening	Hypopigmentation	[106,107]
	Oculocutaneous albinism and Hermansky-Pudlak syndrome	Increased tyrosinase degradation through ubiquitin-proteasome system	Oculocutaneous Albinism, Photoaging	[108,109,110,111]