Chart 2.

Genodermatoses with hypopigmentation or depigmentation

Genodermatoses	Defect in melanogenesis	Affected gene	Heredity; clinical characteristics
Piebaldism	Melanoblast proliferation skin macules	C-KIT, SCF	Autossomic Dominant (AD); depigmented and migration and white forelock
Waardenburg Syndrome (WS)	Melanoblast proliferation and migration	WS1 and WS3, PAX3	Autossomic Dominant (AD); depigmented skin macules and white forelock, heterochromia of the iris, deafness
		WS2, MITF, SOX10
		WS4: SOX10, EDN3
Tietz Syndrome	Melanoblast proliferation and migration	MITF	Autossomic Dominant (AD); hypopigmentation and deafness
Oculocutaneous Albinism (OCA)	Melanin synthesis	OCA1: TR	Autossomic Recessive (AR); pink skin, white hair, blonde, brown, red pupils, reduced visual acuity, nystagmus, photophobia
		OCA2: OCA2 (p gene)
		OCA3: TRP1
		OCA4: MATP
Menkes Syndrome	Melanin synthesis	ATP7A	X-linked recessive; sparse scalp hair, spleen, white or gray, neurological disorders
Chediak-Higashi Syndrome	Melanosome synthesis	LYST	Autossomic Recessive (AR); silvery sheen of the skin and hair, hypo pigmentation of the iris, neurological disorders, ocular albinism, immunodeficiency, pancytopenia
Hermansky-Pudlak Syndrome (HPS)	Melanosome synthesis	HPS	Autossomic Recessive (AR) white patches on the skin and ocular albi nism, bleeding tendency
Griscelli Syndrome (GS)	Melanosome transfer	GSl: MYO5A	Autossomic Recessive (AR); skin and hair hypopigmentation, ocular albinism, neurological disorders
		GS2, RAB27A
		GS3: HPLM

Adapted from DessiniotI C et al., 2009.¹⁰

LYST (gene of factor that regulates lysosome transport); OCA2 (gene of proton pump p-protein), TR (gene of tyrosinase).