X-linked dominant erythropoietic protoporphyria with early-onset manifestations caused by a hemizygous ALAS2 variant

被引：0
|
作者：
Srinivas, Sahana M. [1 ]
Moss, Celia [2 ,3 ]
机构：
[1] Indira Gandhi Inst Child Hlth, Dept Pediat Dermatol, Bangalore, Karnataka, India
[2] Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, England
[3] Univ Birmingham, Sch Med & Dent Sci, Birmingham, England
来源：
CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2024年 / 49卷 / 12期
关键词：
D O I：
10.1093/ced/llae234
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations FECH, blocking the conversion of protoporphyrin to haem. The resulting accumulation of protoporphyrin causes itching, burning and erythema after sun exposure, with facial scarring and, sometimes, liver damage. We report a 4-year-old boy from India with XLDPP with a previously unreported manifestation of photo-onycholysis and an unusually severe phenotype, possibly attributable to extensive sun exposure.
引用
收藏
页码：1760 / 1762
页数：3
相关论文
共 50 条
  • [1] C-TERMINAL DELETION IN THE ALAS2 GENE AND X-LINKED DOMINANT PROTOPORPHYRIA
    Di Pierro, E.
    Brancaleoni, V.
    Tavazzi, D.
    Cappellini, M. D.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 : 315 - 315
  • [2] X-linked dominant protoporphyria due to a novel mutation in ALAS2: a case report
    Ali, F. M.
    Ingram, J. R.
    Whatley, S.
    Badminton, M.
    Anstey, A.
    BRITISH JOURNAL OF DERMATOLOGY, 2011, 164 (05) : 1167 - 1167
  • [3] Severe cutaneous manifestations in an Indian child with X-linked dominant erythropoietic protoporphyria
    Srinivas, Sahana
    Moss, Celia
    BRITISH JOURNAL OF DERMATOLOGY, 2023, 188
  • [4] X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2
    Wang, Tao
    Wang, Yongwei
    Dong, Qi
    Xu, Chenchen
    Zhou, Xiping
    Ouyang, Yunshu
    Liu, Yaping
    Lee, Jonathan J.
    Hu, Nina
    Wang, Kevin
    Zdravkovic, Tanja Prunk
    Shen, Jun
    Nie, Guangjun
    Lian, Christine G.
    Liu, Yuehua
    ANNALS OF TRANSLATIONAL MEDICINE, 2020, 8 (06)
  • [5] Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management
    Balwani, Manisha
    MOLECULAR GENETICS AND METABOLISM, 2019, 128 (03) : 298 - 303
  • [6] Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria
    Ducamp, Sarah
    Schmidt, Paul J.
    Campagna, Dean R.
    Fleming, Mark D.
    BLOOD, 2021, 138
  • [7] C-terminal deletion in the ALAS2 gene causes X-linked erythropoietic protoporphyria (EPP) despite of wild type fech gene
    Brancaleoni, Valentina
    Di Pierro, Elena
    Tavazzi, Dario
    Cappellini, Maria Domenica
    CLINICAL BIOCHEMISTRY, 2009, 42 (18) : 1855 - 1856
  • [8] Erythroid mosaicism: a common feature in X-linked dominant erythropoietic protoporphyria
    Ducamp, S.
    Livideanu, C.
    Lamoril, J.
    Lefebvre, T.
    Gouya, L.
    Marguery, M. C.
    Beaumont, C.
    Deybach, J. -C.
    Puy, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2011, 164 (05) : 1140 - 1140
  • [9] A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia
    Oakley, Jamie Heather
    Campagna, Dean R.
    Sun, Liang
    Rockowitz, Shira
    Sliz, Piotr
    Boudreaux, Jeanne
    Woods, Gary
    Fleming, Mark D.
    PEDIATRIC BLOOD & CANCER, 2022, 69 (01)
  • [10] The first ALAS2 alternate splice variant associated with X-linked sideroblastic anaemia (XLSA)
    Kerr, B.
    Birgegard, G.
    Bostrom, H.
    May, A.
    BRITISH JOURNAL OF HAEMATOLOGY, 2007, 137 : 87 - 87
12345