Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.
Disseminated squamous cell carcinoma (SCC) of the skin is exceedingly rare in children. SCC occurs after immunodeficiency from immunosuppression in organ transplant recipients or patients with HIV infection or leukaemia, but has not been reported in primary immunodeficiencies other than epidermodysplasia verruciformis. Interferon gamma receptor 2 (IFN gamma R2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases. A disseminated, cutaneous SCC is described that occurred in a patient homozygous for a novel frameshift deletion at positions 949 and 950 (949delTG) in the IFNGR2 gene. The patient first presented at 1 year of age with disseminated Mycobacterium avium infection, with later infections of atypical mycobacteria (Mycobacterium fortuitum and Mycobacterium porcium). At 17 years of age, the patient developed multifocal SCC lesions on the face and both hands. Histopathological examination revealed well differentiated SCC. Despite local tumour excision, multiple lesions occurred and a large SCC on the right arm required amputation. The patient died at 20 years of age of disseminated SCC. Inherited disorders of IFN gamma mediated immunity may predispose patients to SCC.
Toyoda
Hidemi
H
Department of Pediatrics, Mie University, 2-174 Edobashi, Tsu 514-8507, Japan. htoyoda@clin.medic.mie-u.ac.jp
Ido
Masaru
M
Nakanishi
Kyoichi
K
Nakano
Takashi
T
Kamiya
Hitoshi
H
Matsumine
Akihiko
A
Uchida
Atsumasa
A
Mizutani
Hitoshi
H
de Beaucoudrey
Ludovic
L
Vogt
Guillaume
G
Boisson-Dupuis
Stéphanie
S
Bustamante
Jacinta
J
Casanova
Jean-Laurent
JL
Komada
Yoshihiro
Y
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000378:metabolism* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D017471:Receptors, Interferon / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D012878:Skin Neoplasms / Q000378:metabolism* / Q000473:pathology; D013194:Staining and Labeling
C086185:IFNGR2 protein, human; D017471:Receptors, Interferon