TY - JOUR
T1 - Lymphomatoid granulomatosis in Cartilage hair hypoplasia
AU - Sathishkumar, D
AU - Gach, JE
AU - Ogboli, Malobi
AU - Desai, Mayur
AU - Cole, T
AU - Högler, Wolfgang
AU - Motwani, J
AU - Norton, A
AU - Morland, Bruce
AU - Colmenero, I
PY - 2018/9/15
Y1 - 2018/9/15
N2 - Cartilage–hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short‐stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi‐allelic RMRP gene mutation. At 13 years, the patient developed an Epstein–Barr virus (EBV)‐driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV‐associated low‐grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV‐associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV‐associated cutaneous malignancy in CHH.
AB - Cartilage–hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short‐stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi‐allelic RMRP gene mutation. At 13 years, the patient developed an Epstein–Barr virus (EBV)‐driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV‐associated low‐grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV‐associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV‐associated cutaneous malignancy in CHH.
U2 - 10.1111/ced.13543
DO - 10.1111/ced.13543
M3 - Article
SN - 0307-6938
VL - 43
SP - 713
EP - 717
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
ER -