Congenital erythropoietic porphyria complicated by squamous cell carcinoma

被引:8
作者
Pandhi, D
Suman, M
Khurana, N
Reddy, BSN
机构
[1] Maulana Azad Med Coll, Dept Pathol, New Delhi, India
[2] Lok Nayak Hosp, Dept Dermatol & STD, New Delhi, India
关键词
D O I
10.1111/j.1525-1470.2003.20609.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 [皮肤病与性病学];
摘要
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.
引用
收藏
页码:498 / 501
页数:4
相关论文
共 15 条
[1]
ANDERSON TM, 1898, BRIT J DERMATOL, V10, P1
[2]
Black M.M., 1998, ROOKWILKINSONEBLING, V6, P2577
[3]
ON A TURF (PEAT) FIRE CANCER - MALIGNANT CHANGE SUPERIMPOSED ON ERYTHEMA AB IGNE [J].
CROSS, F .
PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON, 1967, 60 (12) :1307-&
[4]
Dobriner K, 1936, J BIOL CHEM, V113, P1
[5]
FISCHER H, 1916, MUNCHEN MED WOCHEN, V113, P377
[6]
Congenital erythropoietic porphyria [J].
Fritsch, C ;
Bolsen, K ;
Ruzicka, T ;
Goerz, G .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1997, 36 (04) :594-610
[7]
HYDROXYUREA IN CONGENITAL ERYTHROPOIETIC PORPHYRIA [J].
GUARINI, L ;
PIOMELLI, S ;
POHFITZPATRICK, MB .
NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (15) :1091-1092
[8]
CONGENITAL PORPHYRIA - 3 CASES IN 1 FAMILY [J].
HANDA, F .
ARCHIVES OF DERMATOLOGY, 1965, 91 (02) :130-+
[9]
THE EFFECT OF ORAL ACTIVATED-CHARCOAL ON THE COURSE OF CONGENITAL ERYTHROPOIETIC PORPHYRIA [J].
HIFT, RJ ;
MEISSNER, PN ;
KIRSCH, RE .
BRITISH JOURNAL OF DERMATOLOGY, 1993, 129 (01) :14-17
[10]
Congenital erythropoietic porphyria: Clinical, biochemical, and enzymatic profile of a severely affected infant [J].
Huang, JL ;
Zaider, E ;
Roth, P ;
Garcia, O ;
Pollack, S ;
PohFitzpatrick, MB .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1996, 34 (05) :924-927