Table 1.

Clinical and genetic findings of Gray Hair Syndromes.

Name of Syndrome	Clinical Findings		Genetic Findings	Number of Cases Reported Until Now/Epidemiology [11]
	Dermatological Signs	Nondermatological Signs
GS Griscelli syndrome GS, type 1 (GS1) GS, type 2 (GS2) GS, type 3 (GS3)	GS Hair: Silvery scalp hair, eyebrows, and eyelashes GS Skin: Generalized hypopigmentation with tanning capacities after sun exposure	GS1 Neurologic defects epilepsy, endocranic hypertension, cerebellar signs, hemiparesis, spasticity, hypotonia, peripheral facial palsy, psychomotor retardation Eyes Blue to brown iris	GS1 MYO5A (15q21.2)	GS1 20 cases
		GS2 Immunological defects absence of delayed-type cutaneous hypersensitivity, impaired NK cell function, hypogammaglobulinemia, hemofagocitic lymphohystiocitosis, accelerated phases of hematological disease Neurological defects progressive neurological deterioration due to cerebral macrophage infiltration Eyes Blue to brown iris	GS2 RAB27A (15q21.3)	GS2 102 cases
		GS3 no other systemic signs	GS3 MLPH (2q37.3)	GS3 13 cases
CHS Chediak–Higashi syndrome	CHS Hair: Silvery scalp hair, eyebrows, and eyelashes CHS Skin: Fair skin with tanning capacities (possible hyperpigmentation after sun exposure)	CHS Ocular signs possible strabismus, nystagmus, photophobia Immunological dysfunction recurrent infections (impaired chemotaxis of granulocytes, diminished antibody-dependent cytotoxicity, defective NK cell function); uncontrolled macrophage activation and lymphohistiocytic infiltrates into major organs (about 85% develop HLH) Neurological defects progressive neurological deterioration (cerebral macrophage infiltration) Eyes Blue to brown iris	CHS AR LYST (1q42-43)	600 cases
ES Elejalde syndrome (neuroectodermal melanolysosomal disease)	ES Hair: Leaden-to-silvery scalp hair, eyebrows, and eyelashes ES Skin: Generalized hypopigmentation with intense tanning (bronze skin color) after sun exposure	ES Neurologic defects Like GS1 Ocular signs nystagmus, diplopia, congenital amaurosis Other findings omphalocele	ES AR MYO5A (15q21.2)	20 cases
OHS Oculocerebral hypopigmentation syndrome, Cross type	OHS Hair: Silvery scalp hair, eyebrows, and eyelashes OHS Skin: Generalized hypopigmentation (very light) with photosensitivity	OHS Neurological signs growth deficiency, intellectual disability, spastic tetraplegia, athetoid movements, hyperreflexia Ocular signs microphthalmia, corneal and lens opacity, ectropium, nystagmus, optic nerve atrophy, visual impairment/blindness Other findings Abnormal palate morphology, gingival fibromatosis, dolichocephaly, oligophrenia	OHS AR gene unknown (3q27.1q29)	14 cases