A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. [PDF]
Youssefian L +12 more
europepmc +1 more source
Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report. [PDF]
Premkumar L +3 more
europepmc +1 more source
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. [PDF]
Pöhler E +7 more
europepmc +1 more source
Punctate palmoplantar keratoderma associated with morbus Bechterew and HLA B 27. A family study.
Four patients in a family with punctate palmoplantar keratoderma (Buschke-Fischer) associated with Morbus Bechterew and HLA B 27 in 3 of the family members are reported. Without severe side effect, the proband was successfully treated with 50 mg etretinate per day for 6 weeks.
openaire +1 more source
Connexin26 and 43 play a role in regulating pro-inflammatory events in the epidermis [PDF]
Bartholomew, Christopher +4 more
core +1 more source
Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc +1 more source
Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in <i>FAM83G</i>. [PDF]
Mora-Gómez M +16 more
europepmc +1 more source
A Case of Palmoplantar Keratodermas Complicated by Pseudoainhum and Literature Review. [PDF]
Ye J, Li W, Yang X, Shi Y, Lv W.
europepmc +1 more source

