Results 141 to 150 of about 8,727 (222)

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab. [PDF]

JAAD Case Rep
Zaino M, Jones J, Hu R, Choate K, Callen JP, Schadt CR.   +5 more
europepmc   +1 more source

Palmoplantar lichen planus. [PDF]

CMAJ
Chen YJ, Lee TH.
europepmc   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source

Keratoderma blennorrhagica [PDF]

, 2011
openaire   +2 more sources

Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome

JAAD Case Reports
Deyson Lorenzo-Ríos, MD, Amara Guerrero-García, MD, Francisco Colón-Fontánez, MD   +2 more
doaj   +1 more source

Familial CARD14-associated papulosquamous eruption with a novel mutation successfully treated with secukinumab. [PDF]

JAAD Case Rep
Ren J, Tan G, Shi Z.
europepmc   +1 more source

A Case of Palmoplantar Keratodermas Complicated by Pseudoainhum and Literature Review. [PDF]

Clin Cosmet Investig Dermatol
Ye J, Li W, Yang X, Shi Y, Lv W.
europepmc   +1 more source

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]

J Dermatol
Ahmed S, Cesarato N, Li Y, Xiong X, Ullah K, Khan H, Khan MJ, Thiele H, Ahmad W, Hasni MS, Betz RC.   +10 more
europepmc   +1 more source