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 wit...

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Bibliographic Details
Published in:Pediatric dermatology 2003-11, Vol.20 (6), p.498-501
Main Authors: Pandhi, Deepika, Suman, Mansi, Khurana, Neeta, Reddy, B. S. N.
Format: Article
Language:English
Subjects:
Amputation Stumps - pathology
Axilla
Biological and medical sciences
Bone Neoplasms - complications
Bone Neoplasms - diagnosis
Bone Neoplasms - diagnostic imaging
Bone Neoplasms - secondary
Carcinoma, Squamous Cell - complications
Carcinoma, Squamous Cell - diagnosis
Carcinoma, Squamous Cell - secondary
Child
Dermatology
Diagnosis, Differential
Fatal Outcome
Female
Humans
Medical sciences
Metabolic diseases
Neoplasm Metastasis
Other metabolic disorders
Pigments (porphyrias, hyperbilirubinemias...)
Porphyria, Erythropoietic - complications
Porphyria, Erythropoietic - diagnosis
Porphyria, Erythropoietic - genetics
Porphyria, Erythropoietic - pathology
Radiography
Siblings
Skin Neoplasms - complications
Skin Neoplasms - diagnosis
Skin Neoplasms - pathology
Tropical medicine
Tumors of the skin and soft tissue. Premalignant lesions
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Summary::  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.
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2003.20609.x