Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak Higashi syndrome
Yamazaki-Nakashimada Marco, Gamboa-Solis María Isabel, Murata Chiharu, Saez-de-Ocariz Marimar.
1Instituto Nacional de Pediatría, Immunology department
INTRODUCTION:
Silvery hair syndromes are a group of autosomal recessive inherited disorders that include Chediak-Higashi syndrome (CHS) and Griscelli Syndrome (GS). They are characterized by partial oculocutaneous albinism, silvery hair, and immunodeficiency, but treatment options may differ between CHS and GS. Light microscopic examination of the hair shafts, peripheral blood smear evaluation and/or genetical evaluation are required to differentiate between both syndromes. Recently, skin biopsies have been reported as a useful complementary tool.
METHOD We performed a cross-sectional study in which a quiz with facial photographs from patients with GS and CHS was developed to evaluate sunburnt-cheeks sign in CHS versus uniform tanning in GS among health workers.
RESULTS
The quiz was performed by 37 different evaluators composed of 12 medical students, 12 pediatric residents, 11 dermatology residents, 1 nurse and 1 immunology resident. As mentioned, 28 facial photographs were from patients at the National Institute of Pediatrics, the remaining 23 were obtained from literature reports.
The 37 evaluators observed the facial photographs of 51 patients with silver hair syndrome (CHS: n = 22, GS: n = 29) and independently made a differential diagnosis between CHS and GS. The Kappa coefficient was 0.67 (95% confidence interval: 0.63 – 0.70), which is classified as ‘satisfactory’ according to commonly used interpretation criteria. The diagnostic odds ratio was 25.6 (95% confidence interval: 20.0 – 32.8), which corresponds to a large effect size.
CONCLUSIONS We conclude that GS patients present with a uniform tanning, whereas CHS patients present with an irregular tanning with a particular sunburnt cheeks on the face, a clinical difference which may aid in the diagnosis of both syndromes.