Chediak-Higashi syndrome.
A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome.
Kumar
P
P
Department of Pathology, J.J.M. Medical College, Davangere, Karnataka.
Rao
K S
KS
Shashikala
P
P
Chandrashekar
H R
HR
Banapurmath
C R
CR
D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D001132:Arm; D001205:Ascorbic Acid / Q000008:administration & dosage; D001803:Blood Transfusion; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis* / Q000628:therapy; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005148:Facial Dermatoses; D017809:Fatal Outcome; D006801:Humans; D017495:Hyperpigmentation; D007866:Leg; D008297:Male
D000900:Anti-Bacterial Agents; D001205:Ascorbic Acid