Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs griscelli syndrome, with rare associations

Abstract

Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as “silvery hair syndrome,” consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. GS is also a rare autosomal recessive disorder characterized by reduced skin pigmentation, often regarded as partial albinism and silvery grey hair combined with immunodeficiency. To make correct diagnosis and to differentiate between CHS and GS, it requires light microscopic examination of skin and hair shafts, immunological and peripheral blood smear evaluation. They have been reported to be associated with some common clinical association as a part of the syndrome due to pigmentary delusion, neurological dysfunction, and severe life-threatening infections due to neutrophil phagocytosis dysfunction. There are reports of few rare associations and varied presentations and variable mean survival age. We report two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family.

A case of silvery hair syndrome: Griscelli syndrome

“…[4,7] Elejalde disease has recently been considered to be the same as GS Type 1. [2,4,7] In addition to hypopigmentation and silvery hair, there is early onset profound neurological dysfunction. Immunological function is normal.…”

“…Immune dysregulation leads to recurrent infections and the fatal complication of hemophagocytic syndrome that is characterized by fever, pancytopenia, hepatosplenomegaly, and lymphohistiocytic infiltration of various organs. [2,4] Griscelli syndrome was first described in 1978 by Griscelli and Prunerias. [1] Three genetic forms of GS are known.…”

“…In CHS regularly arranged small clumps of melanin are seen. [1,2,4] In GS, skin microscopy shows excess pigmentation of melanocytes at the basal layer and scanty pigmentation of the surrounding areas. In ED, irregular sized melanin granules dispersed in the basal layer are seen.…”

“…CHS is distinguished from the other two silvery hair syndromes by the presence of prominent inclusions in leucocytes. [1,2] The bronze pigmentation was probably due to tanning following sun exposure. Several reports have described these children with CHS, ED and GS presenting with hyperpigmentation after sun exposure.…”

“…They share many common features like pigmentary dilution, silvery hair, neurological problems and immunological defects. [1][2][3][4] Here, we describe a case of a 7-year-old girl who came for evaluation of fever and was noted to have bronze skin and silvery hair and subsequently diagnosed as GS.…”