Congenital erythropoietic porphyria complicated by squamous cell carcinoma.
We report two sisters, ages 12 and 8 years, with the characteristic clinical and biochemical profile of congenital erythropoietic porphyria (CEP). The disease is inherited as an autosomal recessive. The elder sibling had squamous cell carcinoma arising from the stump of the amputated left arm with metastases to lymph nodes, adrenals, and bone. To our knowledge, this feature has not been described in the English language literature, making our patient the first documented report of CEP with squamous cell carcinoma.
Pandhi
Deepika
D
Department of Dermatology and STD, Lok Nayak Hospital, New Delhi, India.
Suman
Mansi
M
Khurana
Neeta
N
Reddy
B S N
BS
D000672:Amputation Stumps / Q000473:pathology; D001365:Axilla; D001859:Bone Neoplasms / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000556:secondary; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000175:diagnosis* / Q000556:secondary; D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009362:Neoplasm Metastasis; D017092:Porphyria, Erythropoietic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011859:Radiography; D035781:Siblings; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology