title: Congenital erythropoietic porphyria complicated by squamous cell carcinoma.
abstract: 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.
authors.affiliation: Department of Dermatology and STD, Lok Nayak Hospital, New Delhi, India.
authors.forename: Deepika
authors.initials: D
authors.lastname: Pandhi
authors.forename: Mansi
authors.initials: M
authors.lastname: Suman
authors.forename: Neeta
authors.initials: N
authors.lastname: Khurana
authors.forename: B S N
authors.initials: BS
authors.lastname: Reddy
mesh_terms: 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