Neonatal Erythroderma as a First Manifestation of Menkes Disease

被引：5

作者：

Galve, Javier ^{[1
]}

Vicente, Asuncion ^{[1
]}

Antonia Gonzalez-Ensenat, Maria ^{[1
]}

Perez-Duenas, Belen ^{[2
]}

Cusi, Victoria ^{[3
]}

Moller, Lisbeth Birk ^{[4
]}

Julia, Marc ^{[5
]}

Dominguez, Anna ^{[6
,7
]}

Ferrando, Juan ^{[5
]}

机构：

[1] Univ Barcelona, Dept Dermatol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[2] Univ Barcelona, Dept Neurol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[3] Univ Barcelona, Dept Pathol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[4] Kennedy Ctr, Ctrt Appl Human Mol Genet, Glostrup, Denmark

[5] Hosp Clin Barcelona, Dept Dermatol, Barcelona, Spain

[6] Univ Barcelona, Ctr Sci, Barcelona, Spain

[7] Univ Barcelona, Ctr Technol, Barcelona, Spain

来源：

PEDIATRICS | 2012年 / 130卷 / 01期

关键词：

Menkes disease; erythroderma; copper; kinky hair; KINKY HAIR DISEASE; CANDIDATE GENE; DIAGNOSIS; DELETIONS; THERAPY;

D O I：

10.1542/peds.2011-1558

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease with neonatal erythroderma. Genetic study revealed a deletion in exons 8 to 12 in the ATP7A gene. This study could allow pediatricians and pediatric dermatologists to diagnose the disorder as early as possible to establish prompt treatment with parenteral copper-histidine supplementation to improve prognosis. Pediatrics 2012; 130: e239-e242

引用

页码：E239 / E242

页数：4

共 50 条

[1] Erythroderma as the First Manifestation of Colon Cancer
Chong, Vui Heng
Lim, Chee Chian
[J]. SOUTHERN MEDICAL JOURNAL, 2009, 102 (03) : 334 - 335
[2] Neonatal diagnosis and treatment of Menkes disease
Kaler, Stephen G.
Holmes, Courtney S.
Goldstein, David S.
Tang, Jingrong
Godwin, Sarah C.
Donsante, Anthony
Liew, Clarissa J.
Sato, Susumu
Patronas, Nicholas
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (06): : 605 - 614
[3] Erythroderma as a manifestation of leprosy
Baldissera, Renato Luiz
Shwetz, Guilherme Athanasio
Neto, Jose Fillus
Vigo, Noely do Rocio
[J]. ANAIS BRASILEIROS DE DERMATOLOGIA, 2019, 94 (01) : 89 - 92
[4] Neonatal erythroderma
Cotter, C. L.
Rivers, E.
Salisbury, J.
Williamson, E. Duarte
Tewari, A.
[J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2020, 45 (05) : 646 - 649
[5] Neonatal erythroderma
Fraitag, Sylvie
Bodemer, Christine
[J]. CURRENT OPINION IN PEDIATRICS, 2010, 22 (04) : 438 - 444
[6] NEONATAL PULMONARY ASPERGILLOSIS AS THE FIRST MANIFESTATION OF CHRONIC GRANULOMATOUS-DISEASE
MOUY, R
ROPERT, JC
DONADIEU, J
HUBERT, P
DEBLIC, J
REVILLON, Y
BRUNELLE, F
MARTIN, SS
DESCAMPS, B
DEBRE, M
GRISCELLI, C
FISCHER, A
[J]. ARCHIVES DE PEDIATRIE, 1995, 2 (09): : 861 - 864
[7] Lethal neonatal Menkes' disease with severe vasculopathy and fractures
Jankov, RP
Boerkoel, CF
Hellmann, J
Sirkin, WL
Tümer, Z
Horn, N
Feigenbaum, A
[J]. ACTA PAEDIATRICA, 1998, 87 (12) : 1297 - 1300
[8] Erythroderma as first manifestation of squamous cell lung cancer: rare case report
Arandes-Marcocci, Jorge
Iglesias-Sancho, Maribel
Seto-Torrent, Nuria
Teresa Fernandez-Figueras, Maria
[J]. ANAIS BRASILEIROS DE DERMATOLOGIA, 2020, 95 (01) : 67 - 70
[9] Menkes disease: importance of diagnosis with molecular analysis in the neonatal period
de Athayde Costa, Larissa Sampaio
Pegler, Stephanie Pucci
Lellis, Rute Facchini
Jornada Krebs, Vera Lucia
Robertson, Stephen
Morgan, Tim
Honjo, Rachel Sayuri
Bertola, Debora Romeo
Kim, Chong Ae
[J]. REVISTA DA ASSOCIACAO MEDICA BRASILEIRA, 2015, 61 (05): : 407 - 410
[10] NEONATAL THROMBOCYTOPENIA AS THE FIRST MANIFESTATION OF A RARE DISORDER
Adramerina, A.
Theodoridou, S.
Vousvouki, M.
Teli, A.
Diamanti, E.
Economou, M.
[J]. HAEMOPHILIA, 2023, 29 : 59 - 59

← 1 2 3 4 5 →