Case series on Silvery Hair Syndromes: Single Center Experience.

ABSTRACT:

Background

Silvery Hair Syndromes (SHS), an autosomal recessive inherited disorder, includes Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Hermansky-Pudlak syndrome (HPS), and Elejalde syndrome. Associated immunological and neurological defects and predilection for hemophagocytic lymphohistiocytosis (HLH) makes them a distinctive entity in pediatric practice. Thorough clinical examination, bedside investigations such as peripheral blood smear (PBS) and hair microscopy, and bone marrow (BM) examination are inexpensive and reliable diagnostic tools.

Methods

We report 12 cases with SHS (CHS, n = 06; GS, n = 04; HPS, n = 02).

Results

8 out of 12 SHS children (CHS-05, GS-03) presented with HLH. Out of 5 cases of CHS with HLH, 2 died, 3^r

SUBMITTER: Siddiahgari S 

PROVIDER: S-EPMC9455113 | biostudies-literature | 2022 Mar-Apr

REPOSITORIES: biostudies-literature