. 2022 Mar-Apr;67(2):164–168. doi: 10.4103/ijd.IJD_723_20

Table 1.

Characteristic features of children with silvery hair syndrome described in this case series (Original)

Patient characteristics	Chediak-Higashi syndrome						Griscelli syndrome				Hermansky-Pudlak syndrome

	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	Case 9	Case 10	Case 11	Case 12
Age	4 y	2 y	6 y	4 y	6 y	8 y	2 m	45 d	13 d	12 y	5 y	2 y
Sex (M/F)	F	F	F	F	M	F	M	M	F	F	F	F
Consanguinity degree	2^nd	2^nd	3^rd	2^nd	3^rd	3^rd	3^rd	3^rd	2^nd	3^rd	3^rd	2^rd
Clinical features (Fever, Organomegaly, rash)	+	-	+	+	+	+	+	+	+	-	+	+
*Albinism	+	-	+	+	+	+	-	+	+	+	+	+
*Silvery Hair	+	+	+	+	+	+	+	+	+	+	+	+
*Photosensitivity	+	+	+	-	-	-	-	-	-	-	+	+
*Nystagmus	-	+	+	-	-	-	-	-	-	+	-	+
*Bi/Pancytopenia	+	+	+	+	+	+	+	+	+	-	-	-
*High ferritin	+	-	+	+	+	+	+	+	+	-	-	-
*High	+		+	-	+	+	+	+	+	-	-	-
Triglycerides	+	-	+	+	-	-	+	+	+	-	-	-
*Bone Marrow	+		+	+	+	+	-	-	-	-	-	-
HLH evidence		-
*Mononuclear-cell inclusion bodies		+
Genetic Mutation	LYST	-	-	-	-	LYST	-	-	RAB 27A	RAB 27A	AP3B1	AP3B1
Treatment protocol	HLH 2004	-	HLH 2004.	HLH 2004	HLH 2004, HSCT	HLH 2004, HSCT	HLH 2004	HLH 2004	HLH 2004, HSCT	-	-	-
Follow-up	Died	Doing well	Died	Lost to follow-up	Doing well post HSCT	HSCT ongoing	Lost to follow-up	Doing well	Relapsed well post HSCT	Lost to follow-up	Doing well	Neuro-disability