Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

被引：20

作者：

Boyden, L. M. ^{[1
]}

Craiglow, B. G. ^{[2
,3
]}

Hu, R. H. ^{[2
]}

Zhou, J. ^{[2
]}

Browning, J. ^{[5
]}

Eichenfield, L. ^{[6
]}

Lim, Y. L. ^{[7
]}

Luu, M. ^{[8
]}

Randolph, L. M. ^{[9
]}

Ginarte, M. ^{[10
]}

Fachal, L. ^{[11
]}

Rodriguez-Pazos, L. ^{[12
]}

Vega, A. ^{[11
]}

Kramer, D. ^{[13
]}

Yosipovitch, G. ^{[14
]}

Vahidnezhad, H. ^{[15
]}

Youssefian, L. ^{[15
]}

Uitto, J. ^{[15
]}

Lifton, R. P. ^{[1
]}

Paller, A. S. ^{[16
]}

Milstone, L. M. ^{[2
]}

Choate, K. A. ^{[1
,2
,4
]}

机构：

[1] Yale Univ, Dept Genet, Sch Med, POB 208059, New Haven, CT 06520 USA

[2] Yale Univ, Dept Dermatol, Sch Med, POB 208059, New Haven, CT 06520 USA

[3] Yale Univ, Dept Pediat, Sch Med, POB 208059, New Haven, CT 06520 USA

[4] Yale Univ, Dept Pathol, Sch Med, POB 208059, New Haven, CT 06520 USA

[5] Baylor Coll Med, Dept Dermatol, San Antonio, TX USA

[6] Univ Calif San Diego, Dept Dermatol, San Diego, CA 92103 USA

[7] Natl Skin Ctr, Dept Dermatol, Singapore, Singapore

[8] Childrens Hosp Los Angeles, Div Dermatol, Los Angeles, CA 90027 USA

[9] Childrens Hosp Los Angeles, Div Med Genet, Los Angeles, CA 90027 USA

[10] Complejo Hosp Univ, Dept Dermatol, Santiago De Compostela, Spain

[11] IDIS, CIBERER, Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, Santiago De Compostela, Spain

[12] Complejo Hosp Univ Vigo, Serv Dermatol, Vigo, Spain

[13] Hosp Ninos Luis Calvo Mackenna, Dept Dermatol, Santiago, Chile

[14] Miller Sch Med, Dept Dermatol & Cutaneous Surg, Miami, FL USA

[15] Thomas Jefferson Univ, Dept Dermatol, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA

[16] Northwestern Univ, Dept Dermatol, Feinberg Sch Med, Chicago, IL 60611 USA

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2017年 / 177卷 / 01期

关键词：

VARIANT;

D O I：

10.1111/bjd.15570

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：319 / 322

页数：4

共 50 条

[41] Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis
Maier, D.
Mazereeuw-Hautier, J.
Tilinca, M.
Cosgarea, R.
Jonca, N.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2016, 41 (03) : 279 - 282
[42] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
Zambrano, Hector
Montalvan, Martha
Farhi, Anita
Lu, Ying
Yang, Catherine
Cabezas, Jimmy
Lifton, Richard
Milstone, Leonard
Choate, Keith
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S66 - S66
[43] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
Zambrano, H.
Montalvan, M.
Farhi, A.
Lu, Y.
Yang, C.
Cabezas, J.
Lifton, R.
Milstone, L.
Choate, K. A.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S71 - S71
[44] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
Zambrano, Hector
Montalvan, Martha
Cabezas, Jimmy
Lu, Yin
Yang, Catherine S.
Milstone, Leonard M.
Choate, Keith
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (04) : E312 - E313
[45] Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis
Hake, L.
Suessmuth, K.
Drerup, C.
Komlosi, K.
Kopp, J.
Metze, D.
Traupe, H.
Hausser, I.
Eckl, K. M.
Hennies, H. C.
Fischer, J.
Oji, V.
EXPERIMENTAL DERMATOLOGY, 2022, 31 (02) : E42 - E42
[46] Collodion Baby: a case of autosomal recessive congenital ichthyosis
Crettaz, C.
LLor, J.
Russo, M.
Kayemba, Kay's S.
Giannoni, E.
Paccaud, Y.
SWISS MEDICAL WEEKLY, 2017, 147 : 31S - 32S
[47] Psychosocial impact of severe autosomal recessive congenital ichthyosis
Raj, Christina
Singh, Shrishti
Gupta, Aayush
BRITISH JOURNAL OF DERMATOLOGY, 2024, 190 (04) : 565 - 566
[48] Rapid Categorization of Mild Types of Autosomal Recessive Congenital Ichthyosis Undergoing a Phenotypic Shift: Should it be Called "Pleomorphic Ichthyosis" or "Congenital Ichthyosis with Mild Scaling (CIMS)"?
Traupe, Heiko
ACTA DERMATO-VENEREOLOGICA, 2010, 90 (05) : 450 - 452
[49] A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
Ortega-Recalde, O.
Moreno, M. B.
Vergara, J. I.
Fonseca, D. J.
Rojas, R. F.
Mosquera, H.
Medina, C. L.
Restrepo, C. M.
Laissue, P.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2015, 40 (07) : 757 - 760
[50] Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency
Cordisco, Adalgisa
Lozza, Virginia
Di Marco, Chiara
Cecconi, Antonella
Pisaneschi, Elisa
Berti, Samantha Federica
Adamo, Laura
Lori, Ilaria
Belli, Gilda
Gambi, Beatrice
PEDIATRIC DERMATOLOGY, 2024, 41 (03) : 512 - 514

← 1 2 3 4 5 →