Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

Abstract

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases.

Griscelli syndrome with malnutrition: a diagnostic challenge

“…Podtyp GS3 cechuje się wyłącznie występowaniem hipomelanozy [2]. Rozpoznanie GS2 należy uwzględniać u dzieci, u których pojawiają się srebrzysto-siwe włosy, hipopigmentacja skóry, hepatosplenomegalia i niedobór odporności [3].…”

“…Microscopic examination of hair reveals uneven clusters of aggregated melanin pigment [3]. The differential diagnosis includes Chediak-Higashi syndrome, other hemophagocytic syndromes, and Elejalde syndrome.…”

“…Badanie mikroskopowe włosów pacjentki wykazało nierównomierne skupiska melaniny [3]. W diagnostyce różnicowej schorzenia uwzględnia się zespół Chediaka-Higashiego, inne zespoły hemofagocytarne oraz zespół Elejalde.…”

“…GS1 presents with primarily neurologic impairment without immunologic involvement, while GS2 presents with immunological dysfunction and multisystem involvement, whereas GS3 presents with only hypomelanosis [2]. GS2 should be considered in children with silvery-gray hair, hypopigmented skin, hepatosplenomegaly, and immune deficiency [3].…”

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

“…RAB27A is located on 15q21.3 and encodes, RAB27A a member of Rab GTPase family 9,10 . GS2 is characterized by hypopigmentation, frequent pyogenic infection, enlargement of the liver and spleen, neutropenia and thrombocytopenia 2,11,12 . In other words, they develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), a systemic hyperinflammatory syndrome, 12,13 in which the immune system produces too many activated immune cells, including T‐lymphocytes and macrophages (histiocytes) 14 .…”